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2024-04-25 06:24:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004972 5285 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens Janus kinase 2 (JAK2), mRNA.
ACCESSION NM_004972
VERSION NM_004972.3 GI:223671934
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5285)
AUTHORS Xu,W., Chen,G.S., Shao,Y., Li,X.L., Xu,H.C., Zhang,H., Zhu,G.Q.,
Zhou,Y.C., He,X.P. and Sun,W.H.
TITLE Gastrin acting on the cholecystokinin2 receptor induces
cyclooxygenase-2 expression through JAK2/STAT3/PI3K/Akt pathway in
human gastric cancer cells
JOURNAL Cancer Lett. 332 (1), 11-18 (2013)
PUBMED 23376640
REMARK GeneRIF: Suggest that CCK2R-mediated COX-2 up-regulation via
JAK2/STAT3/PI3K/Akt pathway is involved in the proliferative effect
of gastrin on human gastric cancer cells.
REFERENCE 2 (bases 1 to 5285)
AUTHORS Langabeer,S.E., Haslam,K., O'Brien,D., Enright,H. and Leahy,M.
TITLE Transient JAK2 V617F mutation in an aplastic anaemia patient with a
paroxysmal nocturnal haemoglobinuria clone
JOURNAL Br. J. Haematol. 161 (2), 297-298 (2013)
PUBMED 23360357
REMARK GeneRIF: Transient JAK2 V617F mutation in an aplastic anaemia
patient with a paroxysmal nocturnal haemoglobinuria clone.
Review article
REFERENCE 3 (bases 1 to 5285)
AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A.,
Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M.,
Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M.,
Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M.,
Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M.
TITLE A genome-wide association study identifies 2 susceptibility Loci
for Crohn's disease in a Japanese population
JOURNAL Gastroenterology 144 (4), 781-788 (2013)
PUBMED 23266558
REFERENCE 4 (bases 1 to 5285)
AUTHORS Lengfelder,E.
TITLE [Diagnosis and therapy of polycythemia vera in the era of JAK2]
JOURNAL Dtsch. Med. Wochenschr. 138 (7), 331-336 (2013)
PUBMED 23393003
REMARK GeneRIF: The diagnostic criteria of PV have been revised in 2008
and include the JAK2V617F mutation as one of the two major criteria
of the disease. This molecular diagnostic marker proves the
clonality and facilitates the diagnosis.
Review article
REFERENCE 5 (bases 1 to 5285)
AUTHORS Kim,H.R., Choi,H.J., Kim,Y.K., Kim,H.J., Shin,J.H., Suh,S.P.,
Ryang,D.W. and Shin,M.G.
TITLE Allelic expression imbalance of JAK2 V617F mutation in BCR-ABL
negative myeloproliferative neoplasms
JOURNAL PLoS ONE 8 (1), E52518 (2013)
PUBMED 23349688
REMARK GeneRIF: allelic expression imbalance of JAK2 V617F mutant proposes
another plausible mechanism for the contribution of single JAK2
point mutation to phenotypic diversity of MPNs
REFERENCE 6 (bases 1 to 5285)
AUTHORS Szente,B.E., Subramaniam,P.S. and Johnson,H.M.
TITLE Identification of IFN-gamma receptor binding sites for JAK2 and
enhancement of binding by IFN-gamma and its C-terminal peptide
IFN-gamma(95-133)
JOURNAL J. Immunol. 155 (12), 5617-5622 (1995)
PUBMED 7499845
REFERENCE 7 (bases 1 to 5285)
AUTHORS Chauhan,D., Kharbanda,S.M., Ogata,A., Urashima,M., Frank,D.,
Malik,N., Kufe,D.W. and Anderson,K.C.
TITLE Oncostatin M induces association of Grb2 with Janus kinase JAK2 in
multiple myeloma cells
JOURNAL J. Exp. Med. 182 (6), 1801-1806 (1995)
PUBMED 7500025
REFERENCE 8 (bases 1 to 5285)
AUTHORS Igarashi,K., Garotta,G., Ozmen,L., Ziemiecki,A., Wilks,A.F.,
Harpur,A.G., Larner,A.C. and Finbloom,D.S.
TITLE Interferon-gamma induces tyrosine phosphorylation of
interferon-gamma receptor and regulated association of protein
tyrosine kinases, Jak1 and Jak2, with its receptor
JOURNAL J. Biol. Chem. 269 (20), 14333-14336 (1994)
PUBMED 7514165
REFERENCE 9 (bases 1 to 5285)
AUTHORS Pritchard,M.A., Baker,E., Callen,D.F., Sutherland,G.R. and
Wilks,A.F.
TITLE Two members of the JAK family of protein tyrosine kinases map to
chromosomes 1p31.3 and 9p24
JOURNAL Mamm. Genome 3 (1), 36-38 (1992)
PUBMED 1581631
REFERENCE 10 (bases 1 to 5285)
AUTHORS Wilks,A.F., Harpur,A.G., Kurban,R.R., Ralph,S.J., Zurcher,G. and
Ziemiecki,A.
TITLE Two novel protein-tyrosine kinases, each with a second
phosphotransferase-related catalytic domain, define a new class of
protein kinase
JOURNAL Mol. Cell. Biol. 11 (4), 2057-2065 (1991)
PUBMED 1848670
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF005216.1, AL158147.17,
AF058925.1 and AI923337.1.
This sequence is a reference standard in the RefSeqGene project.
On Feb 18, 2009 this sequence version replaced gi:13325062.
Summary: This gene product is a protein tyrosine kinase involved in
a specific subset of cytokine receptor signaling pathways. It has
been found to be constituitively associated with the prolactin
receptor and is required for responses to gamma interferon. Mice
that do not express an active protein for this gene exhibit
embryonic lethality associated with the absence of definitive
erythropoiesis. [provided by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF005216.1, AF058925.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-293 AF005216.1 1-293
294-301 AL158147.17 155883-155890
302-2983 AF005216.1 302-2983
2984-5098 AF058925.1 2967-5081
5099-5285 AI923337.1 1-187 c
FEATURES Location/Qualifiers
source 1..5285
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p24"
gene 1..5285
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Janus kinase 2"
/db_xref="GeneID:3717"
/db_xref="HGNC:6192"
/db_xref="HPRD:00993"
/db_xref="MIM:147796"
exon 1..386
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:115877821"
variation 72
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375852577"
variation 144
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:41303235"
variation 298
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2274472"
variation 301..302
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="c"
/db_xref="dbSNP:34307158"
exon 387..469
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 398
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:186035146"
variation 439
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190253941"
exon 470..720
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
misc_feature 480..482
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="upstream in-frame stop codon"
variation 491
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:375696661"
CDS 495..3893
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/EC_number="2.7.10.2"
/note="Janus kinase 2 (a protein tyrosine kinase); JAK-2"
/codon_start=1
/product="tyrosine-protein kinase JAK2"
/protein_id="NP_004963.1"
/db_xref="GI:4826776"
/db_xref="CCDS:CCDS6457.1"
/db_xref="GeneID:3717"
/db_xref="HGNC:6192"
/db_xref="HPRD:00993"
/db_xref="MIM:147796"
/translation="
MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSGEYVAEEICIAASKACGITPVYHNMFALMSETERIWYPPNHVFHIDESTRHNVLYRIRFYFPRWYCSGSNRAYRHGISRGAEAPLLDDFVMSYLFAQWRHDFVHGWIKVPVTHETQEECLGMAVLDMMRIAKENDQTPLAIYNSISYKTFLPKCIRAKIQDYHILTRKRIRYRFRRFIQQFSQCKATARNLKLKYLINLETLQSAFYTEKFEVKEPGSGPSGEEIFATIIITGNGGIQWSRGKHKESETLTEQDLQLYCDFPNIIDVSIKQANQEGSNESRVVTIHKQDGKNLEIELSSLREALSFVSLIDGYYRLTADAHHYLCKEVAPPAVLENIQSNCHGPISMDFAISKLKKAGNQTGLYVLRCSPKDFNKYFLTFAVERENVIEYKHCLITKNENEEYNLSGTKKNFSSLKDLLNCYQMETVRSDNIIFQFTKCCPPKPKDKSNLLVFRTNGVSDVPTSPTLQRPTHMNQMVFHKIRNEDLIFNESLGQGTFTKIFKGVRREVGDYGQLHETEVLLKVLDKAHRNYSESFFEAASMMSKLSHKHLVLNYGVCVCGDENILVQEFVKFGSLDTYLKKNKNCINILWKLEVAKQLAWAMHFLEENTLIHGNVCAKNILLIREEDRKTGNPPFIKLSDPGISITVLPKDILQERIPWVPPECIENPKNLNLATDKWSFGTTLWEICSGGDKPLSALDSQRKLQFYEDRHQLPAPKWAELANLINNCMDYEPDFRPSFRAIIRDLNSLFTPDYELLTENDMLPNMRIGALGFSGAFEDRDPTQFEERHLKFLQQLGKGNFGSVEMCRYDPLQDNTGEVVAVKKLQHSTEEHLRDFEREIEILKSLQHDNIVKYKGVCYSAGRRNLKLIMEYLPYGSLRDYLQKHKERIDHIKLLQYTSQICKGMEYLGTKRYIHRDLATRNILVENENRVKIGDFGLTKVLPQDKEYYKVKEPGESPIFWYAPESLTESKFSVASDVWSFGVVLYELFTYIEKSKSPPAEFMRMIGNDKQGQMIVFHLIELLKNNGRLPRPDGCPDEIYMIMTECWNNNVNQRPSFRDLALRVDQIRDNMAG
"
misc_feature 495..1211
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60674.2);
Region: Interaction with cytokine/interferon/growth
hormone receptors (By similarity)"
misc_feature 606..1304
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Band 4.1 homologues; Region: B41; smart00295"
/db_xref="CDD:197635"
misc_feature 1095..1097
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 1110..1112
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 1155..1157
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 1548..1553
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form PCM1-JAK2
fusion protein; propagated from UniProtKB/Swiss-Prot
(O60674.2); other site"
misc_feature 1650..1940
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Src homology 2 (SH2) domain in the Janus kinase 2
(Jak2) proteins; Region: SH2_Jak2; cd10379"
/db_xref="CDD:198242"
misc_feature order(1710..1712,1770..1772,1845..1847,1851..1853)
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="phosphotyrosine binding pocket [polypeptide
binding]; other site"
/db_xref="CDD:198242"
misc_feature 1818..1823
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form PCM1-JAK2
fusion protein; propagated from UniProtKB/Swiss-Prot
(O60674.2); other site"
misc_feature 1842..1847
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form PCM1-JAK2
fusion protein; propagated from UniProtKB/Swiss-Prot
(O60674.2); other site"
misc_feature order(1848..1850,1935..1937)
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="hydrophobic binding pocket [polypeptide binding];
other site"
/db_xref="CDD:198242"
misc_feature 2004..2009
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form PCM1-JAK2
fusion protein; propagated from UniProtKB/Swiss-Prot
(O60674.2); other site"
misc_feature 2127..2909
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Protein tyrosine kinase; Region: Pkinase_Tyr;
pfam07714"
/db_xref="CDD:203736"
misc_feature 2139..2912
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Pseudokinase (repeat 1) domain of the Protein
Tyrosine Kinases, Janus kinases 2 and 3; Region:
PTK_Jak2_Jak3_rpt1; cd05078"
/db_xref="CDD:133209"
misc_feature 2202..2204
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 2343..2345
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="V617F mutation site; other site"
/db_xref="CDD:133209"
misc_feature 2622..2627
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form PCM1-JAK2
fusion protein; propagated from UniProtKB/Swiss-Prot
(O60674.2); other site"
misc_feature 2931..2933
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 3024..3875
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Catalytic (repeat 2) domain of the Protein Tyrosine
Kinases, Janus kinases 2 and 3; Region:
PTKc_Jak2_Jak3_rpt2; cd05081"
/db_xref="CDD:133212"
misc_feature 3039..3851
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="Protein tyrosine kinase; Region: Pkinase_Tyr;
pfam07714"
/db_xref="CDD:203736"
misc_feature order(3057..3071,3081..3083,3132..3134,3138..3140,
3279..3290,3297..3299,3420..3422,3432..3437,3441..3443,
3474..3476,3531..3545,3570..3572,3717..3719)
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="active site"
/db_xref="CDD:133212"
misc_feature order(3057..3062,3081..3083,3132..3134,3279..3290,
3297..3299,3432..3437,3441..3443)
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="ATP binding site [chemical binding]; other site"
/db_xref="CDD:133212"
misc_feature order(3420..3422,3432..3434,3531..3545,3570..3572,
3717..3719)
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="substrate binding site [chemical binding]; other
site"
/db_xref="CDD:133212"
misc_feature 3471..3551
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/note="activation loop (A-loop); other site"
/db_xref="CDD:133212"
misc_feature 3513..3515
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="dephosphorylation site; modified site"
/db_xref="HPRD:01050"
misc_feature 3513..3515
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="dephosphorylation site; modified site"
/db_xref="HPRD:01470"
misc_feature 3513..3515
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by autocatalysis; propagated from
UniProtKB/Swiss-Prot (O60674.2); phosphorylation site"
misc_feature 3513..3515
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
misc_feature 3513..3515
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01809"
misc_feature 3516..3518
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="dephosphorylation site; modified site"
/db_xref="HPRD:01050"
misc_feature 3516..3518
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00993"
variation 538
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200322825"
variation 549
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150159583"
variation 620
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:369748023"
variation 631
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:138655335"
variation 635
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:149333413"
variation 637
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143227399"
variation 648
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369833874"
variation 679
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:139087749"
exon 721..844
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 725
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:139093384"
variation 794
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371104486"
variation 831
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143103233"
exon 845..962
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 858
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:147483622"
variation 869
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368963113"
variation 874
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:56118985"
variation 891
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371826393"
variation 892
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376070326"
variation 900
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:140052813"
exon 963..1108
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 969
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:201191238"
variation 983
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230722"
variation 1019
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:150675431"
variation 1073
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:41302214"
variation 1093
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:376697477"
variation 1104
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375180351"
exon 1109..1430
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1195
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373174105"
variation 1199
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:62637624"
variation 1203
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:376125987"
variation 1220
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:149863951"
variation 1225
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:62637625"
variation 1252
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200778413"
variation 1374
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200298704"
exon 1431..1550
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1465
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:139103117"
variation 1503
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:149683525"
variation 1516
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:201555803"
variation 1531
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:55667734"
exon 1551..1708
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1551
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="g"
/db_xref="dbSNP:34793603"
variation 1555
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371907546"
variation 1589
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:140973912"
variation 1590
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375678155"
variation 1611
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368268750"
variation 1624
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:55953208"
variation 1641
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143124074"
variation 1668
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200018153"
variation 1671
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:2230723"
exon 1709..1820
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1713
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:140392449"
variation 1741
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:373528034"
variation 1743
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190968273"
variation 1778
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230727"
variation 1798
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201846579"
variation 1817
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:78729673"
exon 1821..2007
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 1853
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370813541"
variation 1871
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143020417"
variation 1872
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147052515"
variation 1886
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138377429"
variation 1910
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:149595423"
variation 1931
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199577021"
variation 1933
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:62637623"
variation 1952
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10119726"
variation 1954
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141554173"
variation 1963
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:202047673"
variation 1965
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146394461"
variation 2002
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:368359929"
exon 2008..2135
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2024
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370960892"
variation 2035
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374192423"
variation 2038
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:111279131"
variation 2055
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374370951"
variation 2109..2110
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="aa"
/replace="tt"
/db_xref="dbSNP:121912473"
exon 2136..2270
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2144
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200014323"
variation 2150
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:139064896"
variation 2174
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="t"
/db_xref="dbSNP:35668020"
variation 2180
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143997706"
variation 2185
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368927897"
variation 2204
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:146433914"
variation 2205
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:139504737"
variation 2210
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:371734553"
variation 2223
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:10974946"
variation 2232
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199931451"
variation 2246
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:17490221"
variation 2253
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:149705816"
variation 2258
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:182764738"
exon 2271..2358
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2312
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:145561071"
variation 2315
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:121912472"
variation 2343
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:77375493"
variation 2354
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375442615"
exon 2359..2486
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2399
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200327782"
variation 2402
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374297139"
variation 2423
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230728"
STS 2459..2569
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/standard_name="JAK2-1"
/db_xref="UniSTS:511819"
variation 2468
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370260742"
exon 2487..2625
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2553
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:377075634"
variation 2565
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:151160183"
exon 2626..2777
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2665
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372254348"
variation 2688
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:113230874"
variation 2690
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:145273013"
variation 2691
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:375201828"
variation 2713
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:368219482"
exon 2778..2928
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2786
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199661171"
variation 2861
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:201747929"
variation 2868
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:147644681"
variation 2872
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376608371"
variation 2884
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201992086"
variation 2888
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:142306230"
variation 2893
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:147029930"
variation 2908
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369815812"
exon 2929..3065
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 2954
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372856711"
variation 2971
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377400885"
variation 2982
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138340828"
variation 2984
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2230724"
variation 2995
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370736292"
variation 3009
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:373353534"
variation 3017
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112584696"
variation 3024
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368688124"
variation 3032
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:150221602"
exon 3066..3255
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3068
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:2230725"
variation 3071
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138860403"
variation 3080
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2230726"
variation 3142
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201963673"
variation 3149
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:146383885"
variation 3162
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:202237966"
variation 3163
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:368599778"
variation 3168
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201551707"
variation 3179
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183030548"
variation 3190
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200282557"
variation 3206
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:369951684"
variation 3212
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:138470455"
variation 3223
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="t"
/db_xref="dbSNP:148926815"
exon 3256..3380
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3333
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:370705658"
variation 3344
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77779115"
exon 3381..3553
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3392
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145939537"
variation 3425
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:55930140"
variation 3452
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:55873896"
variation 3458
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:370131729"
variation 3524
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:199608873"
exon 3554..3671
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3556
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199942090"
variation 3569
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:368100217"
variation 3581
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371960967"
variation 3646
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375671491"
variation 3652
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142094756"
variation 3671
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374744702"
exon 3672..3785
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3682
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:41316003"
variation 3691
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:139127951"
variation 3724
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112745035"
variation 3735
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:377212884"
variation 3746
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:140219534"
variation 3748
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:371455894"
variation 3753
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:3925597"
variation 3772
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="g"
/db_xref="dbSNP:145217075"
variation 3782
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:62637626"
exon 3786..5285
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/inference="alignment:Splign:1.39.8"
variation 3817
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142269166"
variation 3860
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:144558377"
variation 3872
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:145153225"
variation 3877
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377006096"
variation 3897
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:114173032"
variation 3927
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141017338"
variation 3945
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:144726392"
variation 4015
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:41314565"
variation 4091
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:112889539"
variation 4139
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="t"
/db_xref="dbSNP:1063935"
variation 4152
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:73639265"
STS 4185..4335
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/standard_name="RH92501"
/db_xref="UniSTS:91301"
variation 4205
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:115094619"
variation 4231
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370427680"
STS 4279..5112
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/standard_name="JAK2_v398"
/db_xref="UniSTS:277397"
variation 4282
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:41303215"
variation 4318
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:190355765"
variation 4453
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:183352264"
variation 4553
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150306172"
variation 4563
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:4742069"
variation 4643..4644
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="tatt"
/db_xref="dbSNP:150950589"
variation 4660..4661
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="t"
/db_xref="dbSNP:369216687"
variation 4729
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375600983"
variation 4789
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:115158615"
variation 4808
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:73639266"
variation 4825
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:137882687"
variation 4972..4973
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="c"
/db_xref="dbSNP:34517487"
variation 4979
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:149652844"
variation 4980
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199991050"
variation 4994..4995
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="c"
/db_xref="dbSNP:34736970"
variation 5002
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="c"
/db_xref="dbSNP:187658451"
variation 5012
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:12000101"
variation 5038
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113064951"
variation 5053
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="g"
/replace="t"
/db_xref="dbSNP:144384901"
variation 5069
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:192453327"
variation 5076..5077
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="cat"
/db_xref="dbSNP:150581357"
variation 5183..5188
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="tgtgtg"
/db_xref="dbSNP:139964957"
variation 5183..5184
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="tg"
/db_xref="dbSNP:201997219"
variation 5184
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="gt"
/replace="gtgt"
/db_xref="dbSNP:57509342"
variation 5203
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace="c"
/replace="t"
/db_xref="dbSNP:11506664"
variation 5224..5225
/gene="JAK2"
/gene_synonym="JTK10; THCYT3"
/replace=""
/replace="gtgt"
/db_xref="dbSNP:35336961"
ORIGIN
ctgcaggaaggagagaggaagaggagcagaagggggcagcagcggacgccgctaacggcctccctcggcgctgacaggctgggccggcgcccggctcgcttgggtgttcgcgtcgccacttcggcttctcggccggtcgggcccctcggcccgggcttgcggcgcgcgtcggggctgagggctgctgcggcgcagggagaggcctggtcctcgctgccgagggatgtgagtgggagctgagcccacactggagggcccccgagggcccagcctggaggtcgttcagagccgtgcccgtcccggggcttcgcagaccttgacccgccgggtaggagccgcccctgcgggctcgagggcgcgctctggtcgcccgatctgtgtagccggtttcagaagcaggcaacaggaacaagatgtgaactgtttctcttctgcagaaaaagaggctcttcctcctcctcccgcgacggcaaatgttctgaaaaagactctgcatgggaatggcctgccttacgatgacagaaatggagggaacatccacctcttctatatatcagaatggtgatatttctggaaatgccaattctatgaagcaaatagatccagttcttcaggtgtatctttaccattcccttgggaaatctgaggcagattatctgacctttccatctggggagtatgttgcagaagaaatctgtattgctgcttctaaagcttgtggtatcacacctgtgtatcataatatgtttgctttaatgagtgaaacagaaaggatctggtatccacccaaccatgtcttccatatagatgagtcaaccaggcataatgtactctacagaataagattttactttcctcgttggtattgcagtggcagcaacagagcctatcggcatggaatatctcgaggtgctgaagctcctcttcttgatgactttgtcatgtcttacctctttgctcagtggcggcatgattttgtgcacggatggataaaagtacctgtgactcatgaaacacaggaagaatgtcttgggatggcagtgttagatatgatgagaatagccaaagaaaacgatcaaaccccactggccatctataactctatcagctacaagacattcttaccaaaatgtattcgagcaaagatccaagactatcatattttgacaaggaagcgaataaggtacagatttcgcagatttattcagcaattcagccaatgcaaagccactgccagaaacttgaaacttaagtatcttataaatctggaaactctgcagtctgccttctacacagagaaatttgaagtaaaagaacctggaagtggtccttcaggtgaggagatttttgcaaccattataataactggaaacggtggaattcagtggtcaagagggaaacataaagaaagtgagacactgacagaacaggatttacagttatattgcgattttcctaatattattgatgtcagtattaagcaagcaaaccaagagggttcaaatgaaagccgagttgtaactatccataagcaagatggtaaaaatctggaaattgaacttagctcattaagggaagctttgtctttcgtgtcattaattgatggatattatagattaactgcagatgcacatcattacctctgtaaagaagtagcacctccagccgtgcttgaaaatatacaaagcaactgtcatggcccaatttcgatggattttgccattagtaaactgaagaaagcaggtaatcagactggactgtatgtacttcgatgcagtcctaaggactttaataaatattttttgacttttgctgtcgagcgagaaaatgtcattgaatataaacactgtttgattacaaaaaatgagaatgaagagtacaacctcagtgggacaaagaagaacttcagcagtcttaaagatcttttgaattgttaccagatggaaactgttcgctcagacaatataattttccagtttactaaatgctgtcccccaaagccaaaagataaatcaaaccttctagtcttcagaacgaatggtgtttctgatgtaccaacctcaccaacattacagaggcctactcatatgaaccaaatggtgtttcacaaaatcagaaatgaagatttgatatttaatgaaagccttggccaaggcacttttacaaagatttttaaaggcgtacgaagagaagtaggagactacggtcaactgcatgaaacagaagttcttttaaaagttctggataaagcacacagaaactattcagagtctttctttgaagcagcaagtatgatgagcaagctttctcacaagcatttggttttaaattatggagtatgtgtctgtggagacgagaatattctggttcaggagtttgtaaaatttggatcactagatacatatctgaaaaagaataaaaattgtataaatatattatggaaacttgaagttgctaaacagttggcatgggccatgcattttctagaagaaaacacccttattcatgggaatgtatgtgccaaaaatattctgcttatcagagaagaagacaggaagacaggaaatcctcctttcatcaaacttagtgatcctggcattagtattacagttttgccaaaggacattcttcaggagagaataccatgggtaccacctgaatgcattgaaaatcctaaaaatttaaatttggcaacagacaaatggagttttggtaccactttgtgggaaatctgcagtggaggagataaacctctaagtgctctggattctcaaagaaagctacaattttatgaagataggcatcagcttcctgcaccaaagtgggcagaattagcaaaccttataaataattgtatggattatgaaccagatttcaggccttctttcagagccatcatacgagatcttaacagtttgtttactccagattatgaactattaacagaaaatgacatgttaccaaatatgaggataggtgccctggggttttctggtgcctttgaagaccgggatcctacacagtttgaagagagacatttgaaatttctacagcaacttggcaagggtaattttgggagtgtggagatgtgccggtatgaccctctacaggacaacactggggaggtggtcgctgtaaaaaagcttcagcatagtactgaagagcacctaagagactttgaaagggaaattgaaatcctgaaatccctacagcatgacaacattgtaaagtacaagggagtgtgctacagtgctggtcggcgtaatctaaaattaattatggaatatttaccatatggaagtttacgagactatcttcaaaaacataaagaacggatagatcacataaaacttctgcagtacacatctcagatatgcaagggtatggagtatcttggtacaaaaaggtatatccacagggatctggcaacgagaaatatattggtggagaacgagaacagagttaaaattggagattttgggttaaccaaagtcttgccacaagacaaagaatactataaagtaaaagaacctggtgaaagtcccatattctggtatgctccagaatcactgacagagagcaagttttctgtggcctcagatgtttggagctttggagtggttctgtatgaacttttcacatacattgagaagagtaaaagtccaccagcggaatttatgcgtatgattggcaatgacaaacaaggacagatgatcgtgttccatttgatagaacttttgaagaataatggaagattaccaagaccagatggatgcccagatgagatctatatgatcatgacagaatgctggaacaataatgtaaatcaacgcccctcctttagggatctagctcttcgagtggatcaaataagggataacatggctggatgaaagaaatgaccttcattctgagaccaaagtagatttacagaacaaagttttatatttcacattgctgtggactattattacatatatcattattatataaatcatgatgctagccagcaaagatgtgaaaatatctgctcaaaactttcaaagtttagtaagtttttcttcatgaggccaccagtaaaagacattaatgagaattccttagcaaggattttgtaagaagtttcttaaacattgtcagttaacatcactcttgtctggcaaaagaaaaaaaatagactttttcaactcagctttttgagacctgaaaaaattattatgtaaattttgcaatgttaaagatgcacagaatatgtatgtatagtttttaccacagtggatgtataataccttggcatcttgtgtgatgttttacacacatgagggctggtgttcattaatactgttttctaatttttccatagttaatctataattaattacttcactatacaaacaaattaagatgttcagataattgaataagtacctttgtgtccttgttcatttatatcgctggccagcattataagcaggtgtatacttttagcttgtagttccatgtactgtaaatatttttcacataaagggaacaaatgtctagttttatttgtataggaaatttccctgaccctaaataatacattttgaaatgaaacaagcttacaaagatataatctattttattatggtttcccttgtatctatttgtggtgaatgtgttttttaaatggaactatctccaaatttttctaagactactatgaacagttttcttttaaaattttgagattaagaatgccaggaatattgtcatcctttgagctgctgactgccaataacattcttcgatctctgggatttatgctcatgaactaaatttaagcttaagccataaaatagattagattgttttttaaaaatggatagctcattaagaagtgcagcaggttaagaattttttcctaaagactgtatatttgaggggtttcagaattttgcattgcagtcatagaagagatttatttcctttttagaggggaaatgaggtaaataagtaaaaaagtatgcttgttaattttattcaagaatgccagtagaaaattcataacgtgtatctttaagaaaaatgagcatacatcttaaatcttttcaattaagtataaggggttgttcgttgttgtcatttgttatagtgctactccactttagacaccatagctaaaataaaatatggtgggttttgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgttatttatacaaaacttaaaatacttgctgttttgattaaaaagaaaatagtttcttacttta
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3717 -> Molecular function: GO:0004672 [protein kinase activity] evidence: NAS
GeneID:3717 -> Molecular function: GO:0004713 [protein tyrosine kinase activity] evidence: EXP
GeneID:3717 -> Molecular function: GO:0004713 [protein tyrosine kinase activity] evidence: ISS
GeneID:3717 -> Molecular function: GO:0004713 [protein tyrosine kinase activity] evidence: TAS
GeneID:3717 -> Molecular function: GO:0004715 [non-membrane spanning protein tyrosine kinase activity] evidence: IEA
GeneID:3717 -> Molecular function: GO:0005102 [receptor binding] evidence: IPI
GeneID:3717 -> Molecular function: GO:0005131 [growth hormone receptor binding] evidence: ISS
GeneID:3717 -> Molecular function: GO:0005143 [interleukin-12 receptor binding] evidence: ISS
GeneID:3717 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3717 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IDA
GeneID:3717 -> Molecular function: GO:0020037 [heme binding] evidence: IDA
GeneID:3717 -> Molecular function: GO:0031702 [type 1 angiotensin receptor binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0033130 [acetylcholine receptor binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0035401 [histone kinase activity (H3-Y41 specific)] evidence: IDA
GeneID:3717 -> Molecular function: GO:0042169 [SH2 domain binding] evidence: IPI
GeneID:3717 -> Molecular function: GO:0042393 [histone binding] evidence: IDA
GeneID:3717 -> Molecular function: GO:0043548 [phosphatidylinositol 3-kinase binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0043560 [insulin receptor substrate binding] evidence: IEA
GeneID:3717 -> Molecular function: GO:0051428 [peptide hormone receptor binding] evidence: IEA
GeneID:3717 -> Biological process: GO:0000186 [activation of MAPKK activity] evidence: IEA
GeneID:3717 -> Biological process: GO:0006468 [protein phosphorylation] evidence: TAS
GeneID:3717 -> Biological process: GO:0006915 [apoptotic process] evidence: ISS
GeneID:3717 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: ISS
GeneID:3717 -> Biological process: GO:0006928 [cellular component movement] evidence: TAS
GeneID:3717 -> Biological process: GO:0007165 [signal transduction] evidence: ISS
GeneID:3717 -> Biological process: GO:0007167 [enzyme linked receptor protein signaling pathway] evidence: ISS
GeneID:3717 -> Biological process: GO:0007186 [G-protein coupled receptor signaling pathway] evidence: IEA
GeneID:3717 -> Biological process: GO:0007204 [elevation of cytosolic calcium ion concentration] evidence: IEA
GeneID:3717 -> Biological process: GO:0007243 [intracellular protein kinase cascade] evidence: ISS
GeneID:3717 -> Biological process: GO:0007259 [JAK-STAT cascade] evidence: TAS
GeneID:3717 -> Biological process: GO:0007260 [tyrosine phosphorylation of STAT protein] evidence: ISS
GeneID:3717 -> Biological process: GO:0007262 [STAT protein import into nucleus] evidence: ISS
GeneID:3717 -> Biological process: GO:0007498 [mesoderm development] evidence: TAS
GeneID:3717 -> Biological process: GO:0007596 [blood coagulation] evidence: TAS
GeneID:3717 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA
GeneID:3717 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: ISS
GeneID:3717 -> Biological process: GO:0008631 [intrinsic apoptotic signaling pathway in response to oxidative stress] evidence: IEA
GeneID:3717 -> Biological process: GO:0009755 [hormone-mediated signaling pathway] evidence: IEA
GeneID:3717 -> Biological process: GO:0010811 [positive regulation of cell-substrate adhesion] evidence: IDA
GeneID:3717 -> Biological process: GO:0014068 [positive regulation of phosphatidylinositol 3-kinase cascade] evidence: ISS
GeneID:3717 -> Biological process: GO:0018108 [peptidyl-tyrosine phosphorylation] evidence: ISS
GeneID:3717 -> Biological process: GO:0019221 [cytokine-mediated signaling pathway] evidence: IDA
GeneID:3717 -> Biological process: GO:0019221 [cytokine-mediated signaling pathway] evidence: ISS
GeneID:3717 -> Biological process: GO:0019221 [cytokine-mediated signaling pathway] evidence: TAS
GeneID:3717 -> Biological process: GO:0022408 [negative regulation of cell-cell adhesion] evidence: IEA
GeneID:3717 -> Biological process: GO:0030041 [actin filament polymerization] evidence: NAS
GeneID:3717 -> Biological process: GO:0030154 [cell differentiation] evidence: ISS
GeneID:3717 -> Biological process: GO:0030218 [erythrocyte differentiation] evidence: ISS
GeneID:3717 -> Biological process: GO:0030335 [positive regulation of cell migration] evidence: IEA
GeneID:3717 -> Biological process: GO:0031103 [axon regeneration] evidence: IEA
GeneID:3717 -> Biological process: GO:0031959 [mineralocorticoid receptor signaling pathway] evidence: IEA
GeneID:3717 -> Biological process: GO:0032024 [positive regulation of insulin secretion] evidence: IEA
GeneID:3717 -> Biological process: GO:0032496 [response to lipopolysaccharide] evidence: ISS
GeneID:3717 -> Biological process: GO:0032516 [positive regulation of phosphoprotein phosphatase activity] evidence: IEA
GeneID:3717 -> Biological process: GO:0032731 [positive regulation of interleukin-1 beta production] evidence: IEA
GeneID:3717 -> Biological process: GO:0032760 [positive regulation of tumor necrosis factor production] evidence: ISS
GeneID:3717 -> Biological process: GO:0033160 [positive regulation of protein import into nucleus, translocation] evidence: IEA
GeneID:3717 -> Biological process: GO:0033194 [response to hydroperoxide] evidence: IEA
GeneID:3717 -> Biological process: GO:0033209 [tumor necrosis factor-mediated signaling pathway] evidence: IDA
GeneID:3717 -> Biological process: GO:0034612 [response to tumor necrosis factor] evidence: IDA
GeneID:3717 -> Biological process: GO:0035409 [histone H3-Y41 phosphorylation] evidence: IDA
GeneID:3717 -> Biological process: GO:0035556 [intracellular signal transduction] evidence: TAS
GeneID:3717 -> Biological process: GO:0035722 [interleukin-12-mediated signaling pathway] evidence: IDA
GeneID:3717 -> Biological process: GO:0042503 [tyrosine phosphorylation of Stat3 protein] evidence: IEA
GeneID:3717 -> Biological process: GO:0042506 [tyrosine phosphorylation of Stat5 protein] evidence: IEA
GeneID:3717 -> Biological process: GO:0042508 [tyrosine phosphorylation of Stat1 protein] evidence: IEA
GeneID:3717 -> Biological process: GO:0042517 [positive regulation of tyrosine phosphorylation of Stat3 protein] evidence: ISS
GeneID:3717 -> Biological process: GO:0042523 [positive regulation of tyrosine phosphorylation of Stat5 protein] evidence: ISS
GeneID:3717 -> Biological process: GO:0042977 [activation of JAK2 kinase activity] evidence: ISS
GeneID:3717 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IEA
GeneID:3717 -> Biological process: GO:0043388 [positive regulation of DNA binding] evidence: IEA
GeneID:3717 -> Biological process: GO:0043392 [negative regulation of DNA binding] evidence: ISS
GeneID:3717 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: IEA
GeneID:3717 -> Biological process: GO:0045429 [positive regulation of nitric oxide biosynthetic process] evidence: IEA
GeneID:3717 -> Biological process: GO:0045597 [positive regulation of cell differentiation] evidence: IEA
GeneID:3717 -> Biological process: GO:0045822 [negative regulation of heart contraction] evidence: IEA
GeneID:3717 -> Biological process: GO:0046677 [response to antibiotic] evidence: IDA
GeneID:3717 -> Biological process: GO:0046777 [protein autophosphorylation] evidence: ISS
GeneID:3717 -> Biological process: GO:0048008 [platelet-derived growth factor receptor signaling pathway] evidence: IEA
GeneID:3717 -> Biological process: GO:0050727 [regulation of inflammatory response] evidence: IDA
GeneID:3717 -> Biological process: GO:0050729 [positive regulation of inflammatory response] evidence: IEA
GeneID:3717 -> Biological process: GO:0050731 [positive regulation of peptidyl-tyrosine phosphorylation] evidence: ISS
GeneID:3717 -> Biological process: GO:0050867 [positive regulation of cell activation] evidence: IEA
GeneID:3717 -> Biological process: GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:3717 -> Biological process: GO:0051770 [positive regulation of nitric-oxide synthase biosynthetic process] evidence: ISS
GeneID:3717 -> Biological process: GO:0060333 [interferon-gamma-mediated signaling pathway] evidence: TAS
GeneID:3717 -> Biological process: GO:0060334 [regulation of interferon-gamma-mediated signaling pathway] evidence: TAS
GeneID:3717 -> Biological process: GO:0060396 [growth hormone receptor signaling pathway] evidence: IDA
GeneID:3717 -> Biological process: GO:0060397 [JAK-STAT cascade involved in growth hormone signaling pathway] evidence: ISS
GeneID:3717 -> Biological process: GO:0060397 [JAK-STAT cascade involved in growth hormone signaling pathway] evidence: TAS
GeneID:3717 -> Biological process: GO:0060399 [positive regulation of growth hormone receptor signaling pathway] evidence: ISS
GeneID:3717 -> Biological process: GO:0061180 [mammary gland epithelium development] evidence: ISS
GeneID:3717 -> Biological process: GO:0070671 [response to interleukin-12] evidence: IDA
GeneID:3717 -> Biological process: GO:0097191 [extrinsic apoptotic signaling pathway] evidence: ISS
GeneID:3717 -> Biological process: GO:0097296 [activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway] evidence: ISS
GeneID:3717 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:3717 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:3717 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:3717 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
GeneID:3717 -> Cellular component: GO:0005901 [caveola] evidence: ISS
GeneID:3717 -> Cellular component: GO:0012505 [endomembrane system] evidence: IEA
GeneID:3717 -> Cellular component: GO:0016363 [nuclear matrix] evidence: IEA
GeneID:3717 -> Cellular component: GO:0031904 [endosome lumen] evidence: TAS
GeneID:3717 -> Cellular component: GO:0045121 [membrane raft] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_004963 -> EC 2.7.10.2
by
@meso_cacase at
DBCLS
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