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2024-04-20 00:20:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_147152 4597 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens intersectin 2 (ITSN2), transcript variant 2, mRNA.
ACCESSION NM_147152
VERSION NM_147152.2 GI:194294524
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 4597)
AUTHORS McClay,J.L., Adkins,D.E., Aberg,K., Bukszar,J., Khachane,A.N.,
Keefe,R.S., Perkins,D.O., McEvoy,J.P., Stroup,T.S., Vann,R.E.,
Beardsley,P.M., Lieberman,J.A., Sullivan,P.F. and van den Oord,E.J.
TITLE Genome-wide pharmacogenomic study of neurocognition as an indicator
of antipsychotic treatment response in schizophrenia
JOURNAL Neuropsychopharmacology 36 (3), 616-626 (2011)
PUBMED 21107309
REFERENCE 2 (bases 1 to 4597)
AUTHORS Takefuji,M., Asano,H., Mori,K., Amano,M., Kato,K., Watanabe,T.,
Morita,Y., Katsumi,A., Itoh,T., Takenawa,T., Hirashiki,A.,
Izawa,H., Nagata,K., Hirayama,H., Takatsu,F., Naoe,T., Yokota,M.
and Kaibuchi,K.
TITLE Mutation of ARHGAP9 in patients with coronary spastic angina
JOURNAL J. Hum. Genet. 55 (1), 42-49 (2010)
PUBMED 19911011
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 4597)
AUTHORS Klein,I.K., Predescu,D.N., Sharma,T., Knezevic,I., Malik,A.B. and
Predescu,S.
TITLE Intersectin-2L regulates caveola endocytosis secondary to
Cdc42-mediated actin polymerization
JOURNAL J. Biol. Chem. 284 (38), 25953-25961 (2009)
PUBMED 19622753
REMARK GeneRIF: ITSN-2L, a guanine nucleotide exchange factor for Cdc42,
regulates different steps of caveola endocytosis in ECs by
controlling the temporal and spatial actin polymerization and
remodeling sub-adjacent to the plasma membrane.
REFERENCE 4 (bases 1 to 4597)
AUTHORS Voss,M., Lettau,M. and Janssen,O.
TITLE Identification of SH3 domain interaction partners of human FasL
(CD178) by phage display screening
JOURNAL BMC Immunol. 10, 53 (2009)
PUBMED 19807924
REMARK Publication Status: Online-Only
REFERENCE 5 (bases 1 to 4597)
AUTHORS Lim,C.S., Seet,B.T., Ingham,R.J., Gish,G., Matskova,L., Winberg,G.,
Ernberg,I. and Pawson,T.
TITLE The K15 protein of Kaposi's sarcoma-associated herpesvirus recruits
the endocytic regulator intersectin 2 through a selective SH3
domain interaction
JOURNAL Biochemistry 46 (35), 9874-9885 (2007)
PUBMED 17696407
REMARK GeneRIF: We show that the PPLP motif of K15 protein selectively
binds the SH3-C domain of an endocytic adaptor protein, Intersectin
2 (ITSN2).
REFERENCE 6 (bases 1 to 4597)
AUTHORS Nakayama,M., Kikuno,R. and Ohara,O.
TITLE Protein-protein interactions between large proteins: two-hybrid
screening using a functionally classified library composed of long
cDNAs
JOURNAL Genome Res. 12 (11), 1773-1784 (2002)
PUBMED 12421765
REFERENCE 7 (bases 1 to 4597)
AUTHORS McGavin,M.K., Badour,K., Hardy,L.A., Kubiseski,T.J., Zhang,J. and
Siminovitch,K.A.
TITLE The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein
(WASp)-mediated actin polymerization to T cell antigen receptor
endocytosis
JOURNAL J. Exp. Med. 194 (12), 1777-1787 (2001)
PUBMED 11748279
REFERENCE 8 (bases 1 to 4597)
AUTHORS Pucharcos,C., Casas,C., Nadal,M., Estivill,X. and de la Luna,S.
TITLE The human intersectin genes and their spliced variants are
differentially expressed
JOURNAL Biochim. Biophys. Acta 1521 (1-3), 1-11 (2001)
PUBMED 11690630
REFERENCE 9 (bases 1 to 4597)
AUTHORS Pucharcos,C., Estivill,X. and de la Luna,S.
TITLE Intersectin 2, a new multimodular protein involved in
clathrin-mediated endocytosis
JOURNAL FEBS Lett. 478 (1-2), 43-51 (2000)
PUBMED 10922467
REFERENCE 10 (bases 1 to 4597)
AUTHORS Sparks,A.B., Hoffman,N.G., McConnell,S.J., Fowlkes,D.M. and
Kay,B.K.
TITLE Cloning of ligand targets: systematic isolation of SH3
domain-containing proteins
JOURNAL Nat. Biotechnol. 14 (6), 741-744 (1996)
PUBMED 9630982
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA382952.1, AF182199.1 and
AF038189.1.
On Jul 17, 2008 this sequence version replaced gi:22325382.
Summary: This gene encodes a cytoplasmic protein which contains SH3
domains. This protein is a member of a family of proteins involved
in clathrin-mediated endocytosis. Intersectin 2 is thought to
regulate the formation of clathrin-coated vesicles and also may
function in the induction of T cell antigen receptor (TCR)
endocytosis. Alternatively spliced transcript variants have been
found for this gene that encode three distinct isoforms. Additional
variants have been found but their full length nature has not been
determined. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (2), also known as ITSN2-S1, has
an alternate 3' coding region and 3' UTR compared to variant 1. The
resulting protein (isoform 2) has a distinct C-terminus, compared
to isoform 1.
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 :: AF182199.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-199 DA382952.1 251-449
200-3960 AF182199.1 179-3939
3961-4597 AF038189.1 1363-1999
FEATURES Location/Qualifiers
source 1..4597
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2pter-p25.1"
gene 1..4597
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="intersectin 2"
/db_xref="GeneID:50618"
/db_xref="HGNC:6184"
/db_xref="MIM:604464"
exon 1..225
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(152)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:112242601"
variation complement(171)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:192839842"
variation complement(200)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:4332878"
exon 226..289
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
misc_feature 238..240
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="upstream in-frame stop codon"
variation complement(245..246)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace=""
/replace="a"
/db_xref="dbSNP:35835738"
CDS 259..4008
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="isoform 2 is encoded by transcript variant 2; SH3
domain-containing protein 1B; SH3P18-like WASP-associated
protein"
/codon_start=1
/product="intersectin-2 isoform 2"
/protein_id="NP_671494.2"
/db_xref="GI:194294525"
/db_xref="CCDS:CCDS46230.1"
/db_xref="GeneID:50618"
/db_xref="HGNC:6184"
/db_xref="MIM:604464"
/translation="
MMAQFPTAMNGGPNMWAITSEERTKHDRQFDNLKPSGGYITGDQARNFFLQSGLPAPVLAEIWALSDLNKDGKMDQQEFSIAMKLIKLKLQGQQLPVVLPPIMKQPPMFSPLISARFGMGSMPNLSIPQPLPPAAPITSLSSATSGTNLPPLMMPTPLVPSVSTSSLPNGTASLIQPLPIPYSSSTLPHGSSYSLMMGGFGGASIQKAQSLIDLGSSSSTSSTASLSGNSPKTGTSEWAVPQPTRLKYRQKFNTLDKSMSGYLSGFQARNALLQSNLSQTQLATIWTLADVDGDGQLKAEEFILAMHLTDMAKAGQPLPLTLPPELVPPSFRGGKQIDSINGTLPSYQKMQEEEPQKKLPVTFEDKRKANYERGNMELEKRRQALMEQQQREAERKAQKEKEEWERKQRELQEQEWKKQLELEKRLEKQRELERQREEERRKDIERREAAKQELERQRRLEWERIRRQELLNQKNREQEEIVRLNSKKKNLHLELEALNGKHQQISGRLQDVRLKKQTQKTELEVLDKQCDLEIMEIKQLQQELQEYQNKLIYLVPEKQLLNERIKNMQFSNTPDSGVSLLHKKSLEKEELCQRLKEQLDALEKETASKLSEMDSFNNQLKCGNMDDSVLQCLLSLLSCLNNLFLLLKELRETYNTQQLALEQLYKIKRDKLKEIERKRLELMQKKKLEDEAARKAKQGKENLWKENLRKEEEEKQKRLQEEKTQEKIQEEERKAEEKQRKDKDTLKAEEKKRETASVLVNYRALYPFEARNHDEMSFNSGDIIQVDEKTVGEPGWLYGSFQGNFGWFPCNYVEKMPSSENEKAVSPKKALLPPTVSLSATSTSSEPLSSNQPASVTDYQNVSFSNLTVNTSWQKKSAFTRTVSPGSVSPIHGQGQVVENLKAQALCSWTAKKDNHLNFSKHDIITVLEQQENWWFGEVHGGRGWFPKSYVKIIPGSEVKREEPEALYAAVNKKPTSAAYSVGEEYIALYPYSSVEPGDLTFTEGEEILVTQKDGEWWTGSIGDRSGIFPSNYVKPKDQESFGSASKSGASNKKPEIAQVTSAYVASGSEQLSLAPGQLILILKKNTSGWWQGELQARGKKRQKGWFPASHVKLLGPSSERATPAFHPVCQVIAMYDYAANNEDELSFSKGQLINVMNKDDPDWWQGEINGVTGLFPSNYVKMTTDSDPSQQWCADLQTLDTMQPIERKRQGYIHELIQTEERYMADLQLVVEVRRLLLASSRGICCLS
"
misc_feature 301..579
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Eps15 homology domain; Region: EH; smart00027"
/db_xref="CDD:197477"
misc_feature 334..507
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Eps15 homology domain; found in proteins implicated
in endocytosis, vesicle transport, and signal
transduction. The alignment contains a pair of EF-hand
motifs, typically one of them is canonical and binds to
Ca2+, while the other may not bind to Ca2+. A...; Region:
EH; cd00052"
/db_xref="CDD:28934"
misc_feature order(352..360,376..390)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="pseudo EF-hand loop; other site"
/db_xref="CDD:28934"
misc_feature order(403..405,433..435,445..447)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide binding pocket; other site"
/db_xref="CDD:28934"
misc_feature order(457..459,463..465,469..471,490..492)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28934"
misc_feature 886..888
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NZM3.3); phosphorylation site"
misc_feature 946..948
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NZM3.3); phosphorylation site"
misc_feature 967..1206
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Eps15 homology domain; Region: EH; smart00027"
/db_xref="CDD:197477"
misc_feature 1000..1200
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Eps15 homology domain; found in proteins implicated
in endocytosis, vesicle transport, and signal
transduction. The alignment contains a pair of EF-hand
motifs, typically one of them is canonical and binds to
Ca2+, while the other may not bind to Ca2+. A...; Region:
EH; cd00052"
/db_xref="CDD:28934"
misc_feature order(1018..1026,1045..1059)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="pseudo EF-hand loop; other site"
/db_xref="CDD:28934"
misc_feature order(1072..1074,1102..1104,1114..1116)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide binding pocket; other site"
/db_xref="CDD:28934"
misc_feature order(1126..1128,1132..1134,1138..1140,1159..1161)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28934"
misc_feature 1975..1977
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q9NZM3.3); phosphorylation site"
misc_feature 2533..2703
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="First Src homology 3 domain (or SH3A) of
Intersectin-2; Region: SH3_Intersectin2_1; cd11988"
/db_xref="CDD:212921"
misc_feature order(2554..2556,2560..2562,2569..2571,2581..2583,
2641..2646,2683..2685,2689..2694)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212921"
misc_feature 2923..2925
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NZM3.3); phosphorylation site"
misc_feature 2962..3117
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Second Src homology 3 domain (or SH3B) of
Intersectin-2; Region: SH3_Intersectin2_2; cd11990"
/db_xref="CDD:212923"
misc_feature order(2977..2979,2983..2985,2992..2994,3004..3006,
3055..3060,3097..3099,3103..3108)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212923"
misc_feature 3160..3162
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (Q9NZM3.3); phosphorylation site"
misc_feature 3211..3366
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Third Src homology 3 domain (or SH3C) of
Intersectin-2; Region: SH3_Intersectin2_3; cd11992"
/db_xref="CDD:212925"
misc_feature order(3226..3228,3232..3234,3241..3243,3253..3255,
3304..3309,3346..3348,3352..3357)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212925"
misc_feature 3427..3603
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Fourth Src homology 3 domain (or SH3D) of
Intersectin-2; Region: SH3_Intersectin2_4; cd11994"
/db_xref="CDD:212927"
misc_feature order(3442..3444,3448..3450,3457..3459,3469..3471,
3523..3528,3580..3582,3586..3591)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212927"
misc_feature 3646..3807
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="Fifth Src homology 3 domain (or SH3E) of
Intersectin-2; Region: SH3_Intersectin2_5; cd11996"
/db_xref="CDD:212929"
misc_feature order(3664..3666,3670..3672,3679..3681,3691..3693,
3745..3750,3787..3789,3793..3798)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212929"
variation complement(260)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:150851603"
variation complement(262)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:142953089"
variation complement(283)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:80075089"
exon 290..382
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(292)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147319050"
variation complement(295)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:148176656"
variation complement(302)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:138417754"
variation complement(310)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:140770063"
exon 383..446
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(395)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:371930652"
variation complement(408)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:202087027"
variation complement(419)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:368640072"
variation complement(438)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:201988437"
exon 447..610
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(453)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:373623979"
variation complement(456)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:145280374"
variation complement(460)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:199506980"
variation complement(462)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:188780327"
variation complement(530)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370279890"
variation complement(537)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:376384008"
variation complement(570)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:79060892"
exon 611..814
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(615)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:145742275"
variation complement(644)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:373219511"
variation complement(655)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144746035"
variation complement(660)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:143879838"
variation complement(665)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:368920828"
variation complement(701)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:150905984"
variation complement(769..770)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace=""
/replace="acccccc"
/db_xref="dbSNP:138525854"
variation complement(771..772)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace=""
/replace="cccccc"
/db_xref="dbSNP:145057428"
variation complement(812)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:145563967"
exon 815..911
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(816)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:113215006"
variation complement(824)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:374136596"
variation complement(882)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:142440085"
exon 912..1051
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(939)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:79087404"
variation complement(956)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:147609708"
variation complement(973)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:367583934"
variation complement(987)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:202149113"
variation complement(1004)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:185661764"
variation complement(1018)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:6744320"
variation complement(1033)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:373744022"
exon 1052..1115
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1076)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:377620364"
variation complement(1080)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:375747198"
exon 1116..1253
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1129)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:7603997"
variation complement(1142)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:370882583"
variation complement(1158)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:376543213"
variation complement(1174)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:373051329"
variation complement(1190)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376397736"
variation complement(1193)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:373316215"
variation complement(1203)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:199950309"
variation complement(1204)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:146120506"
exon 1254..1339
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1274)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:138489908"
variation complement(1276)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:137910641"
exon 1340..1602
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1356)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:199879542"
variation complement(1370)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:371731551"
variation complement(1436)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:141131412"
variation complement(1441)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:367839713"
variation complement(1442)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:374912990"
variation complement(1502)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:143043462"
variation complement(1546)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:372641484"
variation complement(1547)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:181552771"
variation complement(1569)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:147837423"
variation complement(1580)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757119"
exon 1603..1752
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1629)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:116395701"
variation complement(1631)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200633067"
variation complement(1633)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:150014134"
variation complement(1634)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:151243708"
variation complement(1655)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370689520"
variation complement(1658)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:146154232"
variation complement(1661)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:146204203"
variation complement(1672)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:199779306"
variation complement(1690)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:139536148"
variation complement(1691)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:372590104"
variation complement(1701)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:377396485"
variation complement(1725)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:141655958"
variation complement(1726)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370935977"
variation complement(1729)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376517605"
variation complement(1739)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:112891258"
exon 1753..1893
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1756)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:375173687"
variation complement(1783)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:183568596"
variation complement(1825)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:372749924"
variation complement(1836)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200259334"
exon 1894..1981
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(1914)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:113248702"
variation complement(1957)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370428258"
variation complement(1959)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:61754186"
variation complement(1960)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:368084622"
exon 1982..2121
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2004)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:138852178"
variation complement(2049)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:201163358"
variation complement(2061)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:377688481"
variation complement(2086)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376431936"
exon 2122..2202
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
exon 2203..2339
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2223)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:148952288"
variation complement(2224)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:201871479"
variation complement(2247)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:77507357"
variation complement(2263)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144528455"
variation complement(2294)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:151296844"
variation complement(2307)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:148637980"
variation complement(2323)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:149446996"
exon 2340..2515
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2375)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:370513777"
variation complement(2457)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:376696896"
variation complement(2485)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200012358"
variation complement(2488)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:372166348"
variation complement(2500)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:368906736"
variation complement(2502)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:375458359"
exon 2516..2613
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2519)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:113455352"
variation complement(2526)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:112792441"
variation complement(2553)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:367574973"
variation complement(2577)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:138970950"
exon 2614..2795
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2628)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:374370621"
variation complement(2629)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:377521295"
variation complement(2690)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:374228841"
variation complement(2694)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:41281489"
variation complement(2697)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:377276610"
variation complement(2714)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:377548804"
variation complement(2746)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:201281903"
variation complement(2772)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:148314336"
variation complement(2785)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:146540075"
exon 2796..2940
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2818)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:140712903"
variation complement(2845)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:149813443"
variation complement(2900)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:376087707"
variation complement(2918)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:41281487"
variation complement(2936)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:41281485"
exon 2941..3146
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(2969)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:373121938"
variation complement(2970)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:144248928"
variation complement(2989)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:369856366"
variation complement(3063)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:376802389"
variation complement(3108)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:375187036"
variation complement(3140)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:199820366"
exon 3147..3211
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3171)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:4398229"
variation complement(3197)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:201295238"
exon 3212..3378
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3308)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:371892239"
variation complement(3323)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144152229"
variation complement(3360)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:368584683"
exon 3379..3424
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3397)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:377235423"
exon 3425..3546
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3438)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:17046204"
variation complement(3447)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:375106887"
variation complement(3459)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:137994569"
variation complement(3500)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:369244541"
variation complement(3517)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:376221823"
exon 3547..3643
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3604)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:150778548"
variation complement(3640)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="c"
/db_xref="dbSNP:369959748"
exon 3644..3835
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3646)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:202114029"
variation complement(3660)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:145637709"
variation complement(3714)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:368797108"
variation complement(3753)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:371100189"
variation complement(3768)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:148366891"
variation complement(3769)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:367952937"
variation complement(3786)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:201093505"
variation complement(3800)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:368615176"
variation complement(3808)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:112408968"
variation complement(3809)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:200963427"
variation complement(3833)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:201649123"
exon 3836..4583
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/inference="alignment:Splign:1.39.8"
variation complement(3861)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:143402065"
variation complement(3873)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="t"
/db_xref="dbSNP:376544881"
variation complement(3874)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:76543468"
variation complement(3930)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:144159139"
variation complement(3949)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:373107209"
variation complement(3952)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:150580767"
variation complement(3954)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:369405758"
variation complement(3986)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200289543"
variation complement(4013)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376658504"
variation complement(4044)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:200768931"
variation complement(4135)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:142649764"
variation complement(4212)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:147737112"
variation complement(4249..4250)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace=""
/replace="g"
/db_xref="dbSNP:375145749"
variation complement(4266)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:2543663"
variation complement(4267)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:193193109"
variation complement(4293)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:376885902"
variation complement(4299)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="a"
/replace="g"
/db_xref="dbSNP:186993898"
variation complement(4359)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="g"
/db_xref="dbSNP:146937322"
STS 4365..4508
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/standard_name="WIAF-2115"
/db_xref="UniSTS:57009"
variation complement(4441)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="c"
/replace="t"
/db_xref="dbSNP:1203"
variation complement(4500)
/gene="ITSN2"
/gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP"
/replace="g"
/replace="t"
/db_xref="dbSNP:2543662"
ORIGIN
cggccgccatgttgttgtggggctgaggcggcgccggcggagccctgagcggctgtgacaggctacgcaacaggttcgcgggcggcggcctgacgaccaagccagctgcagtggcggcgacggcggcagagcagggtctccccgcgcctgcccgcgcccaggctgccggtgctgagggacgcggagtcgcgctgtgacgagcgggaggcgcggcgagggcgccagatggctgagagctagcaaggaaaactcaggaccatgatggctcagtttcccacagctatgaatggagggccaaacatgtgggctattacctctgaagaacgtactaagcatgacaggcagtttgataacctcaaaccttcaggaggttacataacaggtgatcaagcacgtaattttttcctacaatcaggtctgccggcccctgttttagctgaaatatgggctttatcagacctaaacaaggatgggaagatggatcagcaagagttctccatagctatgaaactcatcaaactgaagcttcaaggccaacagttgcctgtggttctccctcctattatgaagcaaccccctatgttttctccattaatttctgctcgttttggaatgggaagcatgcccaatctgtccattcctcagccattgcctccagctgcacctataacatcattgtcttctgcgacttcagggaccaaccttcctcccttaatgatgcccactcccctagtgccttctgttagcacatcatcattaccaaatggaaccgccagtctcattcagcctttacccattccttattcttcttcaacattgcctcatgggtcatcttatagtctgatgatgggaggatttggaggtgctagtatacagaaagcgcagtctctgattgatttaggatctagtagctcaacttcctcgactgcttcactctcagggaactcacccaagactgggacctcagagtgggcagttcctcagcctacaagattaaaatatcggcaaaaatttaatactcttgacaaaagtatgagtggatatctctcaggttttcaagctagaaatgcccttcttcagtcaaatctttctcaaactcagctggctactatttggactctggctgacgttgatggtgatggacagctaaaagcagaagagtttattcttgcaatgcaccttactgacatggccaaagctggacagccattaccactgactttacctcctgagcttgttcctccatctttcagaggaggaaagcaaattgattccattaatggaactctgccttcatatcagaaaatgcaagaagaggagcctcagaagaaattaccagttacttttgaggacaaacggaaagccaactatgagcgagggaacatggagctggaaaagcgacgccaagccttgatggagcagcaacaaagggaggcagaacgtaaagcccagaaagaaaaggaagagtgggaacgaaaacagagagaattacaagaacaagaatggaagaaacaacttgaattagaaaaacgcttagagaagcaacgggaattggagagacaacgagaggaagaaaggagaaaagacatagaaagacgagaggcagcaaaacaggaacttgaacgacaacgtcgcttagaatgggagagaattcggcgacaggagcttctcaatcaaaagaatagagaacaagaagaaattgtcaggttaaactctaaaaagaagaatcttcatcttgagttggaagcactgaatggcaaacatcagcagatctcaggcagacttcaggatgtccgactcaaaaagcaaactcaaaagactgagctggaagttctggataagcagtgtgacttggaaattatggaaatcaagcaacttcaacaggaacttcaggaatatcagaataagcttatctatctggtacctgagaagcaattattaaatgaaagaattaaaaacatgcagttcagtaacacacctgattcaggggtcagtttacttcataaaaaatcattagaaaaggaagaattatgccaaagacttaaagaacagttagatgctcttgaaaaagaaactgcatctaagctgtcagaaatggattcttttaacaatcaactaaagtgtgggaatatggatgactctgttcttcagtgccttttgtctctgctaagctgtctcaacaacctcttcctcttacttaaggaactgagagaaacctacaacacacagcagttagcccttgaacagctttataagatcaaacgtgacaagttgaaggaaattgaaaggaaaagattagaactaatgcagaaaaagaaactagaagatgaggctgcaaggaaagcaaagcaaggaaaagaaaacttatggaaagaaaatcttagaaaggaggaagaagaaaaacaaaagcgactccaggaagaaaaaacacaagaaaaaattcaagaagaggaacggaaagctgaggagaaacaacgtaaggataaggatactttgaaagctgaggagaaaaaacgtgagacagctagtgttttggtgaattatagagcattatacccctttgaagcaaggaaccatgatgagatgagttttaattctggagatataattcaggttgatgaaaaaaccgtaggagaacctggttggctttatggtagttttcaaggaaattttggctggtttccatgcaattatgtagaaaaaatgccatcaagtgaaaatgaaaaagctgtatctccaaagaaggccttacttcctcctacagtttctttatctgctacctcaacttcctctgaaccactttcttcaaatcaaccagcatcagtgactgattatcaaaatgtatctttttcaaacctaactgtaaatacatcatggcagaaaaaatcagccttcactcgaactgtgtcccctggatctgtatcacctattcatggacagggacaagtggtagaaaacttaaaagcacaggccctttgttcctggactgcaaagaaagataaccacttgaacttctcaaaacatgacattattactgtcttggagcagcaagaaaattggtggtttggggaggtgcatggaggaagaggatggtttcccaaatcttatgtcaagatcattcctgggagtgaagtaaaacgggaagaaccagaagctttgtatgcagctgtaaataagaaacctacctcggcagcctattcagttggagaagaatatattgcactttatccatattcaagtgtggaacctggagatttgactttcacagaaggtgaagaaatattggtgacccagaaagatggagagtggtggacaggaagtattggagatagaagtggaatttttccatcaaactatgtcaaaccaaaggatcaagagagttttgggagtgctagcaagtctggagcatcaaataaaaaacctgagattgctcaggtaacttcagcatatgttgcttctggttctgaacaacttagccttgcaccaggacagttaatattaattctaaagaaaaatacaagtgggtggtggcaaggagagttacaggccagaggaaaaaagcgacagaaaggatggtttcctgccagtcatgttaaacttttgggtccaagtagtgaaagagccacacctgcctttcatcctgtatgtcaggtgattgctatgtatgactatgcagcaaataatgaagatgagctcagtttctccaagggacaactcattaatgttatgaacaaagatgatcctgattggtggcaaggagagatcaacggggtgactggtctctttccttcaaactacgttaagatgacgacagactcagatccaagtcaacagtggtgtgctgatctgcaaaccctggacacaatgcagccaattgagaggaaaagacagggctatattcatgagctgattcagaccgaagagcggtacatggctgaccttcagctcgtcgtcgaggtgaggaggctgctgctggctagctctcggggtatctgctgtctctcatgagagatggtgggcatcagactcagggctgcctccacgcagagtcaaagcaaggcatcacttttgatgtgtgaattcacaaatagtgacggaagctctcacatcctccaaatgctgtctctgcctgccggataatgcttgagattgaaagtctctaatgagctctttcccccagatgaggtcactcagagtgaagcgggagaacaagagggcattcgcatggcttcgttggatgtggcaggagccccatcaaggaaggacggggatagagtggatgggaagggcctatggcagaccgtagcttccttggatatttgcctaatatctgttttaacatctgacattttcataaactggtatctctggaggaactgtgaaacagtgaaagtgttcacctcatggttgtatcagtttggaaaacccaatgggagcatattgtaaaatagttcccaaatatcatatagctactgtttgtttataccagtgacctctacgctgatgacagctatccttattcgagtagcactttaaaatgatttgtgcttgagtgaacaaaagaagactttccatttctactaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:50618 -> Molecular function: GO:0005070 [SH3/SH2 adaptor activity] evidence: TAS
GeneID:50618 -> Molecular function: GO:0005089 [Rho guanyl-nucleotide exchange factor activity] evidence: IEA
GeneID:50618 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:50618 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA
GeneID:50618 -> Biological process: GO:0006897 [endocytosis] evidence: IEA
GeneID:50618 -> Biological process: GO:0035023 [regulation of Rho protein signal transduction] evidence: IEA
GeneID:50618 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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