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2024-04-18 23:14:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001170414 4129 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens tight junction protein 2 (TJP2), transcript variant 5,
mRNA.
ACCESSION NM_001170414
VERSION NM_001170414.2 GI:358679293
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 4129)
AUTHORS Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Hohn
R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X,
Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson
CL, Makela KM, Lehtimaki T, Kahonen M, Paterson AD, Hosseini SM,
Wong HS, Xu L, Jonas JB, Parssinen O, Wedenoja J, Yip SP, Ho DW,
Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T,
Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA,
Chen P, Li R, Liao J, Zheng Y, Ong RT, Doring A, Evans DM, Timpson
NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD,
Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW,
Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ,
Schache M, Janmahasathian S, Igo RP Jr, Lass JH, Chew E, Iyengar
SK, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk
Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Muller C, Uitterlinden
AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N,
Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong
TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM,
Bailey-Wilson JE, Stambolian D, Klaver CC and Hammond CJ.
CONSRTM Consortium for Refractive Error and Myopia (CREAM); Diabetes
Control and Complications Trial/Epidemiology of Diabetes
Interventions and Complications (DCCT/EDIC) Research Group;
Wellcome Trust Case Control Consortium 2 (WTCCC2); Fuchs' Genetics
Multi-Center Study Group
TITLE Genome-wide meta-analyses of multiancestry cohorts identify
multiple new susceptibility loci for refractive error and myopia
JOURNAL Nat. Genet. 45 (3), 314-318 (2013)
PUBMED 23396134
REFERENCE 2 (bases 1 to 4129)
AUTHORS Gonzalez-Mariscal,L., Bautista,P., Lechuga,S. and Quiros,M.
TITLE ZO-2, a tight junction scaffold protein involved in the regulation
of cell proliferation and apoptosis
JOURNAL Ann. N. Y. Acad. Sci. 1257, 133-141 (2012)
PUBMED 22671599
REMARK GeneRIF: ZO-2 inhibits the Wnt signaling pathway, reduces cell
proliferation, and promotes apoptosis; its absence, mutation, or
overexpression is present in various human diseases, including
deafness and cancer.
Review article
REFERENCE 3 (bases 1 to 4129)
AUTHORS Oka,T., Schmitt,A.P. and Sudol,M.
TITLE Opposing roles of angiomotin-like-1 and zona occludens-2 on
pro-apoptotic function of YAP
JOURNAL Oncogene 31 (1), 128-134 (2012)
PUBMED 21685940
REMARK GeneRIF: AmotL1 and ZO-2 are two candidates that could be harnessed
to control the oncogenic function of YAP.
REFERENCE 4 (bases 1 to 4129)
AUTHORS Foster,M.C., Yang,Q., Hwang,S.J., Hoffmann,U. and Fox,C.S.
TITLE Heritability and genome-wide association analysis of renal sinus
fat accumulation in the Framingham Heart Study
JOURNAL BMC Med. Genet. 12, 148 (2011)
PUBMED 22044751
REMARK Publication Status: Online-Only
REFERENCE 5 (bases 1 to 4129)
AUTHORS Walsh,T., Pierce,S.B., Lenz,D.R., Brownstein,Z.,
Dagan-Rosenfeld,O., Shahin,H., Roeb,W., McCarthy,S., Nord,A.S.,
Gordon,C.R., Ben-Neriah,Z., Sebat,J., Kanaan,M., Lee,M.K.,
Frydman,M., King,M.C. and Avraham,K.B.
TITLE Genomic duplication and overexpression of TJP2/ZO-2 leads to
altered expression of apoptosis genes in progressive nonsyndromic
hearing loss DFNA51
JOURNAL Am. J. Hum. Genet. 87 (1), 101-109 (2010)
PUBMED 20602916
REMARK GeneRIF: TJP2- and GSK-3beta-mediated increased susceptibility to
apoptosis of cells of the inner ear is the mechanism for
adult-onset hearing loss in this kindred and may serve as one model
for age-related hearing loss in the general population.
REFERENCE 6 (bases 1 to 4129)
AUTHORS Chlenski,A., Ketels,K.V., Tsao,M.S., Talamonti,M.S., Anderson,M.R.,
Oyasu,R. and Scarpelli,D.G.
TITLE Tight junction protein ZO-2 is differentially expressed in normal
pancreatic ducts compared to human pancreatic adenocarcinoma
JOURNAL Int. J. Cancer 82 (1), 137-144 (1999)
PUBMED 10360833
REFERENCE 7 (bases 1 to 4129)
AUTHORS Itoh,M., Morita,K. and Tsukita,S.
TITLE Characterization of ZO-2 as a MAGUK family member associated with
tight as well as adherens junctions with a binding affinity to
occludin and alpha catenin
JOURNAL J. Biol. Chem. 274 (9), 5981-5986 (1999)
PUBMED 10026224
REFERENCE 8 (bases 1 to 4129)
AUTHORS Denker,B.M. and Nigam,S.K.
TITLE Molecular structure and assembly of the tight junction
JOURNAL Am. J. Physiol. 274 (1 PT 2), F1-F9 (1998)
PUBMED 9458817
REMARK Review article
REFERENCE 9 (bases 1 to 4129)
AUTHORS Beatch,M., Jesaitis,L.A., Gallin,W.J., Goodenough,D.A. and
Stevenson,B.R.
TITLE The tight junction protein ZO-2 contains three PDZ
(PSD-95/Discs-Large/ZO-1) domains and an alternatively spliced
region
JOURNAL J. Biol. Chem. 271 (42), 25723-25726 (1996)
PUBMED 8824195
REFERENCE 10 (bases 1 to 4129)
AUTHORS Duclos,F., Rodius,F., Wrogemann,K., Mandel,J.L. and Koenig,M.
TITLE The Friedreich ataxia region: characterization of two novel genes
and reduction of the critical region to 300 kb
JOURNAL Hum. Mol. Genet. 3 (6), 909-914 (1994)
PUBMED 7951235
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB196171.1, AK295016.1,
AI738923.1, DA270962.1, CX865985.1 and AA724570.1.
On Dec 1, 2011 this sequence version replaced gi:282165799.
Summary: This gene encodes a zonula occluden that is a member of
the membrane-associated guanylate kinase homolog family. The
encoded protein functions as a component of the tight junction
barrier in epithelial and endothelial cells and is necessary for
proper assembly of tight junctions. Mutations in this gene have
been identified in patients with hypercholanemia, and genomic
duplication of a 270 kb region including this gene causes autosomal
dominant deafness-51. Alternatively spliced transcripts encoding
multiple isoforms have been observed for this gene. [provided by
RefSeq, Nov 2011].
Transcript Variant: This variant (5) has multiple differences,
compared to variant 1. These differences include a distinct 5' UTR
and translation initiation at a downstream start codon, compared to
variant 1. The encoded isoform (5) is shorter than isoform 1.
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 :: AK295016.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-44 DB196171.1 1-44
45-144 AK295016.1 1-100
145-145 AI738923.1 36-36
146-1575 AK295016.1 102-1531
1576-1609 DA270962.1 137-170
1610-3472 AK295016.1 1566-3428
3473-4125 CX865985.1 24-676 c
4126-4129 AA724570.1 7-10 c
FEATURES Location/Qualifiers
source 1..4129
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q13-q21"
gene 1..4129
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="tight junction protein 2"
/db_xref="GeneID:9414"
/db_xref="HGNC:11828"
/db_xref="MIM:607709"
exon 1..102
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
misc_feature 32..34
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="upstream in-frame stop codon"
variation 82
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:115097943"
exon 103..223
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 124
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143989752"
variation 129
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11145465"
variation 155
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371136681"
variation 160
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113401861"
variation 208
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375438084"
variation 223
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374563251"
exon 224..277
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 231
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:187570733"
CDS 233..3295
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="isoform 5 is encoded by transcript variant 5;
Friedreich ataxia region gene X104 (tight junction protein
ZO-2); zona occludens 2; zonula occludens protein 2"
/codon_start=1
/product="tight junction protein ZO-2 isoform 5"
/protein_id="NP_001163885.1"
/db_xref="GI:282165800"
/db_xref="CCDS:CCDS55317.1"
/db_xref="GeneID:9414"
/db_xref="HGNC:11828"
/db_xref="MIM:607709"
/translation="
MEELIWEQYTVTLQKDSKRGFGIAVSGGRDNPHFENGETSIVISDVLPGGPADGLLQENDRVVMVNGTPMEDVLHSFAVQQLRKSGKVAAIVVKRPRKVQVAALQASPPLDQDDRAFEVMDEFDGRSFRSGYSERSRLNSHGGRSRSWEDSPERGRPHERARSRERDLSRDRSRGRSLERGLDQDHARTRDRSRGRSLERGLDHDFGPSRDRDRDRSRGRSIDQDYERAYHRAYDPDYERAYSPEYRRGARHDARSRGPRSRSREHPHSRSPSPEPRGRPGPIGVLLMKSRANEEYGLRLGSQIFVKEMTRTGLATKDGNLHEGDIILKINGTVTENMSLTDARKLIEKSRGKLQLVVLRDSQQTLINIPSLNDSDSEIEDISEIESNRSFSPEERRHQYSDYDYHSSSEKLKERPSSREDTPSRLSRMGATPTPFKSTGDIAGTVVPETNKEPRYQEDPPAPQPKAAPRTFLRPSPEDEAIYGPNTKMVRFKKGDSVGLRLAGGNDVGIFVAGIQEGTSAEQEGLQEGDQILKVNTQDFRGLVREDAVLYLLEIPKGEMVTILAQSRADVYRDILACGRGDSFFIRSHFECEKETPQSLAFTRGEVFRVVDTLYDGKLGNWLAVRIGNELEKGLIPNKSRAEQMASVQNAQRDNAGDRADFWRMRGQRSGVKKNLRKSREDLTAVVSVSTKFPAYERVLLREAGFKRPVVLFGPIADIAMEKLANELPDWFQTAKTEPKDAGSEKSTGVVRLNTVRQIIEQDKHALLDVTPKAVDLLNYTQWFPIVIFFNPDSRQGVKTMRQRLNPTSNKSSRKLFDQANKLKKTCAHLFTATINLNSANDSWFGSLKDTIQHQQGEAVWVSEGKMEGMDDDPEDRMSYLTAMGADYLSCDSRLISDFEDTDGEGGAYTDNELDEPAEEPLVSSITRSSEPVQHEEIEIAQKHPDIYAVPIKTHKPDPGTPQHTSSRPPEPQKAPSRPYQDTRGSYGSDAEEEEYRQQLSEHSKRGYYGQSARYRDTEL
"
misc_feature 257..514
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(290..301,305..307,464..469,476..481)
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 1085..1309
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(1115..1126,1130..1132,1259..1264,1271..1276)
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 1691..1930
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(1721..1732,1736..1738,1874..1879,1886..1891)
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 1973..2161
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="Src homology 3 domain of the Tight junction
protein, Zonula occludens protein 2; Region: SH3_ZO-2;
cd12027"
/db_xref="CDD:212960"
misc_feature order(2000..2002,2006..2008,2015..2017,2027..2029,
2090..2095,2141..2143,2147..2152)
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="peptide ligand binding site [polypeptide binding];
other site"
/db_xref="CDD:212960"
misc_feature 2261..2800
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/note="Guanylate kinase homologues; Region: GuKc;
smart00072"
/db_xref="CDD:197501"
variation 242
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145628692"
exon 278..402
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 306
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:121918299"
variation 348
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138241615"
variation 368
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200422718"
variation 373
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376932801"
variation 375
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142847960"
exon 403..505
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 418
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200346028"
variation 419
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201206163"
variation 436
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:183412157"
variation 460
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:72709079"
variation 497
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144396411"
exon 506..1115
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 538
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181450555"
variation 545
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:41305539"
variation 558
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:141496493"
variation 663
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374558646"
variation 671
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368217372"
variation 680
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201708475"
variation 713
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:372594490"
variation 722
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:201191711"
variation 740
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200390074"
variation 762
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373944275"
variation 807
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201977617"
variation 819
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371548163"
variation 842
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373515581"
variation 861
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150883816"
variation 867
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139402211"
variation 911
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144127005"
variation 945
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376454579"
variation 951
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368849809"
variation 961
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372592617"
variation 975
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377314831"
variation 995
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369572714"
variation 1040
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:189916909"
variation 1050
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376434139"
variation 1051
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369376162"
variation 1058
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace=""
/replace="c"
/db_xref="dbSNP:35765595"
variation 1071
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199641113"
variation 1073
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375605660"
variation 1074
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200222645"
variation 1081
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374523970"
exon 1116..1219
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1129
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:199857597"
variation 1135
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:372333417"
variation 1144
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:147139671"
variation 1148
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140340673"
variation 1149
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:375470616"
variation 1168
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140444730"
variation 1198
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144213955"
exon 1220..1373
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1226
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:78681604"
variation 1254
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:77321498"
variation 1271
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142596636"
variation 1288
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377744473"
variation 1300
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17062695"
variation 1342
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141089413"
exon 1374..1482
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1414
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199910382"
variation 1421
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199761505"
variation 1422
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201850095"
variation 1428
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144928091"
variation 1482
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:201118051"
exon 1483..1616
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1498
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201454629"
variation 1499
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:141175414"
variation 1500
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150193775"
variation 1513
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17062723"
variation 1561
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368671250"
variation 1574
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149386335"
variation 1607
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371970921"
variation 1609
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2309428"
variation 1611
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372652662"
exon 1617..1683
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1636
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:138509345"
variation 1638
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200531230"
variation 1641
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:41277901"
variation 1652
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202036469"
variation 1662
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147315517"
variation 1669
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139354927"
variation 1679
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369223517"
exon 1684..1834
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1705
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202207638"
variation 1794
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142684074"
variation 1816
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:201151091"
variation 1819
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150723764"
variation 1820
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199766035"
exon 1835..1943
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1876
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376280878"
variation 1939
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17852440"
exon 1944..2154
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 1953
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368211022"
variation 1957
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372476914"
variation 1984
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375041393"
variation 2020
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:139082742"
variation 2040
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:149911553"
variation 2080
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:12340440"
variation 2122
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139939884"
variation 2142
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143383833"
exon 2155..2342
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2158
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:146741666"
variation 2167
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34774441"
variation 2183
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199605381"
variation 2190
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:142254605"
variation 2197
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373160031"
variation 2203
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111723895"
variation 2208
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374930338"
variation 2244
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201366118"
variation 2246
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:140497048"
variation 2292
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150440380"
variation 2294
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35797487"
variation 2300
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:116545275"
variation 2337
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369608760"
exon 2343..2438
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2369
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146818363"
variation 2371
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201690110"
variation 2372
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139314808"
variation 2388
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149439289"
variation 2433
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:189443180"
exon 2439..2518
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2440
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:144429323"
variation 2442
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370850127"
variation 2486
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147994200"
variation 2492
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373645515"
variation 2497
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:183285809"
variation 2498
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145368713"
variation 2515
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17852441"
exon 2519..2729
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2530
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:75668442"
variation 2547
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139867659"
variation 2572
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199666475"
variation 2623
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112546379"
variation 2629
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1049624"
variation 2639
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:368776405"
variation 2648
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1049625"
variation 2658
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200527346"
variation 2665
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1049626"
variation 2689
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1049627"
variation 2717
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143346845"
exon 2730..2830
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2799
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:75450131"
variation 2809
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11788754"
exon 2831..3043
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 2839
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:377138769"
variation 2854
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149969431"
variation 2861
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:374830612"
variation 2864
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201976717"
variation 2869
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145703764"
variation 2878
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2282336"
variation 2883
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149659876"
variation 2889
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146761713"
variation 2890
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2095876"
variation 2905
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370164683"
variation 2914
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:184519036"
variation 2938
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374453976"
variation 2941
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140442228"
variation 2953
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:189082774"
variation 2954
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139276234"
variation 2973
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:28556975"
variation 2982
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199852211"
variation 2995
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:191634088"
variation 3015
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368776552"
variation 3016
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201287214"
variation 3021
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377218278"
variation 3022
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:369972534"
exon 3044..3129
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 3044
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201835299"
variation 3064
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61753629"
variation 3093
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376663560"
variation 3114
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139636763"
variation 3115
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374945852"
variation 3119
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10122717"
exon 3130..4129
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/inference="alignment:Splign:1.39.8"
variation 3137
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:371868714"
variation 3155
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:375244684"
variation 3185
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:200425899"
variation 3197..3198
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace=""
/replace="g"
/replace="ggg"
/db_xref="dbSNP:144624916"
variation 3199
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:79207032"
variation 3205
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="c"
/db_xref="dbSNP:199597127"
variation 3217
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111595785"
variation 3221
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377625722"
variation 3222
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:370985421"
variation 3250
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147675640"
variation 3251
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377241881"
variation 3278
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112109886"
variation 3279
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201144827"
variation 3280
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:145112366"
variation 3284
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:192802385"
variation 3332
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374233417"
variation 3341
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11548277"
STS 3367..3466
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/standard_name="D9S1716"
/db_xref="UniSTS:20005"
variation 3447
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:184271014"
variation 3478
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3812536"
variation 3569
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:368634749"
variation 3644
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:189219524"
variation 3665
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:116341259"
variation 3685
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1804894"
variation 3744
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373505707"
STS 3794..3995
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/standard_name="RH39762"
/db_xref="UniSTS:90538"
STS 3859..3997
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/standard_name="G54053"
/db_xref="UniSTS:109435"
variation 3915
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="t"
/db_xref="dbSNP:4558"
variation 3917
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370920805"
variation 3928
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11548278"
variation 3957
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148680905"
variation 3962
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376112488"
variation 3964
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1804896"
STS 3971..4085
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/standard_name="SGC30152"
/db_xref="UniSTS:39540"
variation 3990
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11548276"
variation 4024
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1804895"
variation 4031
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
/replace=""
/replace="a"
/db_xref="dbSNP:369196578"
polyA_signal 4097..4102
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
polyA_site 4125
/gene="TJP2"
/gene_synonym="C9DUPq21.11; DFNA51; DUP9q21.11; X104; ZO2"
ORIGIN
caccctctccgcctttcccgacaccccaaagtagcgctgcgagcagctgcgtctccctcccggggctcgcgcgcccagaaccctccggtctcaaggaagcagggtgcgaagtaccacattactgtcatctccctgtgagtgggattggcaccccggctgcagctccaggagcaagtactccaggaagcacagagctgtaccagtacacggcccacgttgccaggccccaggcatggaagagctgatatgggaacagtacactgtgaccctacaaaaggattccaaaagaggatttggaattgcagtgtccggaggcagagacaacccccactttgaaaatggagaaacgtcaattgtcatttctgatgtgctcccgggtgggcctgctgatgggctgctccaagaaaatgacagagtggtcatggtcaatggcacccccatggaggatgtgcttcattcgtttgcagttcagcagctcagaaaaagtgggaaggtcgctgctattgtggtcaagaggccccggaaggtccaggtggccgcacttcaggccagccctcccctggatcaggatgaccgggcttttgaggtgatggacgagtttgatggcagaagtttccggagtggctacagcgagaggagccggctgaacagccatggggggcgcagccgcagctgggaggacagcccggaaagggggcgtccccatgagcgggcccggagccgggagcgggacctcagccgggaccggagccgtggccggagcctggagcggggcctggaccaagaccatgcgcgcacccgagaccgcagccgtggccggagcctggagcggggcctggaccacgactttgggccatcccgggaccgggaccgtgaccgcagccgcggccggagcattgaccaggactacgagcgagcctatcaccgggcctacgacccagactacgagcgggcctacagcccggagtacaggcgcggggcccgccacgatgcccgctctcggggaccccgaagccgcagccgcgagcacccgcactcacggagccccagccccgagcctagggggcggccggggcccatcggggtcctcctgatgaaaagcagagcgaacgaagagtatggtctccggcttgggagtcagatcttcgtaaaggaaatgacccgaacgggtctggcaactaaagatggcaaccttcacgaaggagacataattctcaagatcaatgggactgtaactgagaacatgtctttaacggatgctcgaaaattgatagaaaagtcaagaggaaaactacagctagtggtgttgagagacagccagcagaccctcatcaacatcccgtcattaaatgacagtgactcagaaatagaagatatttcagaaatagagtcaaaccgatcattttctccagaggagagacgtcatcagtattctgattatgattatcattcctcaagtgagaagctgaaggaaaggccaagttccagagaggacacgccgagcagattgtccaggatgggtgcgacacccactccctttaagtccacaggggatattgcaggcacagttgtcccagagaccaacaaggaacccagataccaagaggaccccccagctcctcaaccaaaagcagccccgagaacttttcttcgtcctagtcctgaagatgaagcaatatatggccctaataccaaaatggtaaggttcaagaagggagacagcgtgggcctccggttggctggtggcaatgatgtcgggatatttgttgctggcattcaagaagggacctcggcggagcaggagggccttcaagaaggagaccagattctgaaggtgaacacacaggatttcagaggattagtgcgggaggatgccgttctctacctgttagaaatccctaaaggtgaaatggtgaccattttagctcagagccgagccgatgtgtatagagacatcctggcttgtggcagaggggattcgttttttataagaagccactttgaatgtgagaaggaaactccacagagcctggccttcaccagaggggaggtcttccgagtggtagacacactgtatgacggcaagctgggcaactggctggctgtgaggattgggaacgagttggagaaaggcttaatccccaacaagagcagagctgaacaaatggccagtgttcaaaatgcccagagagacaacgctggggaccgggcagatttctggagaatgcgtggccagaggtctggggtgaagaagaacctgaggaaaagtcgggaagacctcacagctgttgtgtctgtcagcaccaagttcccagcttatgagagggttttgctgcgagaagctggtttcaagagacctgtggtcttattcggccccatagctgatatagcaatggaaaaattggctaatgagttacctgactggtttcaaactgctaaaacggaaccaaaagatgcaggatctgagaaatccactggagtggtccggttaaataccgtgaggcaaattattgaacaggataagcatgcactactggatgtgactccgaaagctgtggacctgttgaattacacccagtggttcccaattgtgatttttttcaacccagactccagacaaggtgtcaaaaccatgagacaaaggttaaatccaacgtccaacaaaagttctcgaaagttatttgatcaagccaacaagcttaaaaaaacgtgtgcacacctttttacagctacaatcaacctaaattcagccaatgatagctggtttggcagcttaaaggacactattcagcatcagcaaggagaagcggtttgggtctctgaaggaaagatggaagggatggatgatgaccccgaagaccgcatgtcctacttaaccgccatgggcgcggactatctgagttgcgacagccgcctcatcagtgactttgaagacacggacggtgaaggaggcgcctacactgacaatgagctggatgagccagccgaggagccgctggtgtcgtccatcacccgctcctcggagccggtgcagcacgaggagatcgaaattgcccagaagcatcctgatatctatgcagttccaatcaaaacgcacaagccagaccctggcacgccccagcacacgagttccagaccccctgagccacagaaagctccttccagaccttatcaggataccagaggaagttatggcagtgatgccgaggaggaggagtaccgccagcagctgtcagaacactccaagcgcggttactatggccagtctgcccgataccgggacacagaattatagatgtctgagcacggactctcccaggcctgcctgcatggcatcagactagccactcctgccaggccgccgggatggttcttctccagttagaatgcaccatggagacgtggtgggactccagctcgtgtgtcctcatggagaacccaggggacagctggtgcaaattcagaactgagggctctgtttgtgggactgggttagaggagtctgtggctttttgttcagaattaagcagaacactgcagtcagatcctgttacttgcttcagtggaccgaaatctgtattctgtttgcgtacttgtaatatgtatattaagaagcaataactatttttcctcattaatagctgccttcaaggactgtttcagtgtgagtcagaatgtgaaaaaggaataaaaaatactgttgggctcaaactaaattcaaagaagtactttattgcaactcttttaagtgccttggatgagaagtgtcttaaattttcttcctttgaagctttaggcagagccataatggactaaaacattttgactaagtttttataccagcttaatagctgtagttttccctgcactgtgtcatcttttcaaggcatttgtctttgtaatattttccataaatttggactgtctatatcataactatacttgatagtttggctataagtgctcaatagcttgaagcccaagaagttggtatcgaaatttgttgtttgtttaaacccaagtgctgcacaaaagcagatacttgaggaaaacactatttccaaaagcacatgtattgacaacagttttataatttaataaaaaggaatacattgcaatccgtaatttt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9414 -> Molecular function: GO:0004385 [guanylate kinase activity] evidence: TAS
GeneID:9414 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9414 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:9414 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:9414 -> Biological process: GO:0035329 [hippo signaling cascade] evidence: TAS
GeneID:9414 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:9414 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:9414 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:9414 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:9414 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:9414 -> Cellular component: GO:0005912 [adherens junction] evidence: IEA
GeneID:9414 -> Cellular component: GO:0005923 [tight junction] evidence: IDA
GeneID:9414 -> Cellular component: GO:0030054 [cell junction] evidence: IDA
by
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