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TJP2 (tight junction protein 2)

Gene

Tight junction protein 2

TJP2

C9DUPq21.11, DFNA51, DUP9q21.11, FHCA1, PFIC4, X104, ZO2

9

9q21.11

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 ass

Show/Hide all(49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918299	T>C	Pathogenic	Coding sequence variant, missense variant
rs138241615	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs138509345	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139314808	G>A	Pathogenic	Coding sequence variant, missense variant
rs141496493	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149911553	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs184519036	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs191634088	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs199641113	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200222645	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200415824	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs530810462	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777518	GCCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777519	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777520	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777521	A>G	Pathogenic	Splice acceptor variant
rs745427593	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746830415	C>T	Pathogenic	Stop gained, coding sequence variant
rs748671901	C>T	Pathogenic	Stop gained, coding sequence variant
rs749009273	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs750625862	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs764379398	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, stop gained
rs771690686	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs776869985	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs777460754	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs781334233	->G	Pathogenic	Coding sequence variant, frameshift variant
rs786205659	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs864321695	G>T	Pathogenic	Intron variant, splice acceptor variant
rs864321697	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041948	->CCTCA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886042381	T>A	Pathogenic	Coding sequence variant, stop gained
rs928915940	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1057518679	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499649	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1182781290	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1251192873	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1278244243	T>C	Likely-pathogenic	Splice donor variant
rs1554660803	CG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554662952	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554664852	G>T	Pathogenic	Splice donor variant
rs1554667607	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1563915664	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1563948951	C>T	Pathogenic	Coding sequence variant, stop gained
rs1588080674	A>C	Pathogenic	Splice acceptor variant
rs1588080680	G>A	Pathogenic	Splice acceptor variant
rs1588081022	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1588117076	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1588127136	G>A	Pathogenic	Splice acceptor variant
rs1588135086	T>G	Likely-pathogenic	Intron variant

Show/Hide all(111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002718	hsa-miR-124-3p	Microarray	15685193
MIRT006684	hsa-miR-203a-3p	qRT-PCR, Western blot	22101077
MIRT016495	hsa-miR-193b-3p	Microarray	20304954
MIRT002718	hsa-miR-124-3p	Microarray	18668037
MIRT002718	hsa-miR-124-3p	Microarray	15685193
MIRT024740	hsa-miR-215-5p	Microarray	19074876
MIRT025356	hsa-miR-34a-5p	Proteomics	21566225
MIRT025356	hsa-miR-34a-5p	Proteomics	21566225
MIRT025356	hsa-miR-34a-5p	Proteomics	21566225
MIRT026686	hsa-miR-192-5p	Microarray	19074876
MIRT1425830	hsa-miR-129-5p	CLIP-seq
MIRT1425831	hsa-miR-3122	CLIP-seq
MIRT1425832	hsa-miR-3157-3p	CLIP-seq
MIRT1425833	hsa-miR-3689a-3p	CLIP-seq
MIRT1425834	hsa-miR-3689c	CLIP-seq
MIRT1425835	hsa-miR-3913-5p	CLIP-seq
MIRT1425836	hsa-miR-4735-5p	CLIP-seq
MIRT1425837	hsa-miR-874	CLIP-seq
MIRT1425838	hsa-miR-938	CLIP-seq
MIRT1425839	hsa-miR-1297	CLIP-seq
MIRT1425840	hsa-miR-132	CLIP-seq
MIRT1425841	hsa-miR-1587	CLIP-seq
MIRT1425842	hsa-miR-1910	CLIP-seq
MIRT1425843	hsa-miR-212	CLIP-seq
MIRT1425844	hsa-miR-26a	CLIP-seq
MIRT1425845	hsa-miR-26b	CLIP-seq
MIRT1425846	hsa-miR-342-3p	CLIP-seq
MIRT1425847	hsa-miR-345	CLIP-seq
MIRT1425848	hsa-miR-3651	CLIP-seq
MIRT1425849	hsa-miR-3663-3p	CLIP-seq
MIRT1425850	hsa-miR-4256	CLIP-seq
MIRT1425851	hsa-miR-4461	CLIP-seq
MIRT1425852	hsa-miR-4465	CLIP-seq
MIRT1425853	hsa-miR-4662a-5p	CLIP-seq
MIRT1425854	hsa-miR-4674	CLIP-seq
MIRT1425855	hsa-miR-494	CLIP-seq
MIRT1425856	hsa-miR-498	CLIP-seq
MIRT1425857	hsa-miR-635	CLIP-seq
MIRT2127609	hsa-miR-124	CLIP-seq
MIRT2127610	hsa-miR-1273d	CLIP-seq
MIRT2127611	hsa-miR-128	CLIP-seq
MIRT1425840	hsa-miR-132	CLIP-seq
MIRT2127612	hsa-miR-148a	CLIP-seq
MIRT2127613	hsa-miR-148b	CLIP-seq
MIRT2127614	hsa-miR-152	CLIP-seq
MIRT2127615	hsa-miR-1909	CLIP-seq
MIRT1425842	hsa-miR-1910	CLIP-seq
MIRT1425843	hsa-miR-212	CLIP-seq
MIRT2127616	hsa-miR-3130-5p	CLIP-seq
MIRT2127617	hsa-miR-320e	CLIP-seq
MIRT2127618	hsa-miR-3714	CLIP-seq
MIRT2127619	hsa-miR-3915	CLIP-seq
MIRT2127620	hsa-miR-3928	CLIP-seq
MIRT2127621	hsa-miR-4477a	CLIP-seq
MIRT2127622	hsa-miR-4482	CLIP-seq
MIRT2127623	hsa-miR-4493	CLIP-seq
MIRT2127624	hsa-miR-4635	CLIP-seq
MIRT2127625	hsa-miR-4668-5p	CLIP-seq
MIRT1425855	hsa-miR-494	CLIP-seq
MIRT2127626	hsa-miR-506	CLIP-seq
MIRT2127627	hsa-miR-642b	CLIP-seq
MIRT2349333	hsa-miR-105	CLIP-seq
MIRT2127609	hsa-miR-124	CLIP-seq
MIRT2127610	hsa-miR-1273d	CLIP-seq
MIRT2127611	hsa-miR-128	CLIP-seq
MIRT1425840	hsa-miR-132	CLIP-seq
MIRT2349334	hsa-miR-137	CLIP-seq
MIRT2127612	hsa-miR-148a	CLIP-seq
MIRT2127613	hsa-miR-148b	CLIP-seq
MIRT2127614	hsa-miR-152	CLIP-seq
MIRT2127615	hsa-miR-1909	CLIP-seq
MIRT2349335	hsa-miR-194	CLIP-seq
MIRT2349336	hsa-miR-208a	CLIP-seq
MIRT2349337	hsa-miR-208b	CLIP-seq
MIRT1425843	hsa-miR-212	CLIP-seq
MIRT2349338	hsa-miR-23a	CLIP-seq
MIRT2349339	hsa-miR-23b	CLIP-seq
MIRT2349340	hsa-miR-23c	CLIP-seq
MIRT2127616	hsa-miR-3130-5p	CLIP-seq
MIRT2349341	hsa-miR-3148	CLIP-seq
MIRT2349342	hsa-miR-3163	CLIP-seq
MIRT2127617	hsa-miR-320e	CLIP-seq
MIRT1425846	hsa-miR-342-3p	CLIP-seq
MIRT1425847	hsa-miR-345	CLIP-seq
MIRT2349343	hsa-miR-3617	CLIP-seq
MIRT2349344	hsa-miR-3647-3p	CLIP-seq
MIRT2349345	hsa-miR-3658	CLIP-seq
MIRT2127618	hsa-miR-3714	CLIP-seq
MIRT2127619	hsa-miR-3915	CLIP-seq
MIRT2127620	hsa-miR-3928	CLIP-seq
MIRT1425850	hsa-miR-4256	CLIP-seq
MIRT2349346	hsa-miR-4282	CLIP-seq
MIRT2127621	hsa-miR-4477a	CLIP-seq
MIRT2127622	hsa-miR-4482	CLIP-seq
MIRT2127623	hsa-miR-4493	CLIP-seq
MIRT2127624	hsa-miR-4635	CLIP-seq
MIRT2127625	hsa-miR-4668-5p	CLIP-seq
MIRT2349347	hsa-miR-4774-5p	CLIP-seq
MIRT1425855	hsa-miR-494	CLIP-seq
MIRT2349348	hsa-miR-499-5p	CLIP-seq
MIRT2127626	hsa-miR-506	CLIP-seq
MIRT2349349	hsa-miR-548ac	CLIP-seq
MIRT2349350	hsa-miR-548ae	CLIP-seq
MIRT2349351	hsa-miR-548aj	CLIP-seq
MIRT2349352	hsa-miR-548am	CLIP-seq
MIRT2349353	hsa-miR-548d-3p	CLIP-seq
MIRT2349354	hsa-miR-548x	CLIP-seq
MIRT2349355	hsa-miR-548z	CLIP-seq
MIRT2349356	hsa-miR-641	CLIP-seq
MIRT2127627	hsa-miR-642b	CLIP-seq
MIRT2349357	hsa-miR-802	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004385	Function	Guanylate kinase activity	TAS	8824195
GO:0005515	Function	Protein binding	IPI	15975580, 18823282, 22665060, 23885123
GO:0005634	Component	Nucleus	IDA	20868367
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	11090614
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IBA	21873635
GO:0005923	Component	Bicellular tight junction	IDA	22006950, 23885123
GO:0019904	Function	Protein domain specific binding	IPI	23885123
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	23885123
GO:0034109	Process	Homotypic cell-cell adhesion	IDA	21679692
GO:0035329	Process	Hippo signaling	TAS
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0044291	Component	Cell-cell contact zone	IDA	21679692
GO:0045216	Process	Cell-cell junction organization	IBA	21873635
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA	21873635
GO:0050892	Process	Intestinal absorption	IMP	23885123
GO:0090557	Process	Establishment of endothelial intestinal barrier	IBA	21873635
GO:0090557	Process	Establishment of endothelial intestinal barrier	IMP	23885123
GO:0090559	Process	Regulation of membrane permeability	IMP	23885123
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0150105	Process	Protein localization to cell-cell junction	IBA	21873635
GO:1905605	Process	Positive regulation of blood-brain barrier permeability	IBA	21873635
GO:1905605	Process	Positive regulation of blood-brain barrier permeability	IMP	19148554
GO:1990782	Function	Protein tyrosine kinase binding	IPI	21679692

MIM	HGNC	e!Ensembl
607709	11828	ENSG00000119139

Protein

UniProt ID

Protein name

Tight junction protein 2 (Tight junction protein ZO-2) (Zona occludens protein 2) (Zonula occludens protein 2)

Protein function

Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity). {ECO:0000250|UniProt

PDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	33 → 117	PDZ domain	Domain
PF00595	PDZ	298 → 382	PDZ domain	Domain
PF00595	PDZ	510 → 589	PDZ domain	Domain
PF07653	SH3_2	608 → 667	Variant SH3 domain	Domain
PF00625	Guanylate_kin	767 → 878	Guanylate kinase	Domain

Sequence

MPVRGDRGFPPRRELSGWLRAPGMEELIWEQYTVTLQKDSKRGFGIAVSGGRDNPHFENG
ETSIVISDVLPGGPADGLLQENDRVVMVNGTPMEDVLHSFAVQQLRKSGKVAAIVVKRPR
KVQVAALQASPPLDQDDRAFEVMDEFDGRSFRSGYSERSRLNSHGGRSRSWEDSPERGRP
HERARSRERDLSRDRSRGRSLERGLDQDHARTRDRSRGRSLERGLDHDFGPSRDRDRDRS
RGRSIDQDYERAYHRAYDPDYERAYSPEYRRGARHDARSRGPRSRSREHPHSRSPSPEPR
GRPGPIGVLLMKSRANEEYGLRLGSQIFVKEMTRTGLATKDGNLHEGDIILKINGTVTEN
MSLTDARKLIEKSRGKLQLVVLRDSQQTLINIPSLNDSDSEIEDISEIESNRSFSPEERR
HQYSDYDYHSSSEKLKERPSSREDTPSRLSRMGATPTPFKSTGDIAGTVVPETNKEPRYQ
EDPPAPQPKAAPRTFLRPSPEDEAIYGPNTKMVRFKKGDSVGLRLAGGNDVGIFVAGIQE
GTSAEQEGLQEGDQILKVNTQDFRGLVREDAVLYLLEIPKGEMVTILAQSRADVYRDILA
CGRGDSFFIRSHFECEKETPQSLAFTRGEVFRVVDTLYDGKLGNWLAVRIGNELEKGLIP
NKSRAEQMASVQNAQRDNAGDRADFWRMRGQRSGVKKNLRKSREDLTAVVSVSTKFPAYE
RVLLREAGFKRPVVLFGPIADIAMEKLANELPDWFQTAKTEPKDAGSEKSTGVVRLNTVR
QIIEQDKHALLDVTPKAVDLLNYTQWFPIVIFFNPDSRQGVKTMRQRLNPTSNKSSRKLF
DQANKLKKTCAHLFTATINLNSANDSWFGSLKDTIQHQQGEAVWVSEGKMEGMDDDPEDR
MSYLTAMGADYLSCDSRLISDFEDTDGEGGAYTDNELDEPAEEPLVSSITRSSEPVQHEE
SIRKPSPEPRAQMRRAASSDQLRDNSPPPAFKPEPPKAKTQNKEESYDFSKSYEYKSNPS
AVAGNETPGASTKGYPPPVAAKPTFGRSILKPSTPIPPQEGEEVGESSEEQDNAPKSVLG
KVKIFEKMDHKARLQRMQELQEAQNARIEIAQKHPDIYAVPIKTHKPDPGTPQHTSSRPP
EPQKAPSRPYQDTRGSYGSDAEEEEYRQQLSEHSKRGYYGQSARYRDTEL

Sequence length

1190

Interactions

View interactions

	KEGG		Reactome
	Tight junction Vibrio cholerae infection		Signaling by Hippo Apoptotic cleavage of cell adhesion proteins

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Cholestasis	Cholestasis, progressive familial intrahepatic 4	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	24614073, 24752540
Hypercholanemia	Hypercholanemia, Familial, Familial hypercholanemia	rs121918299, rs587777520, rs928915940	12704386, 24752540
Intrahepatic cholestasis	Intrahepatic Cholestasis, Progressive familial intrahepatic cholestasis type 4	rs121918299, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs111033609, rs121909099, rs387906381, rs121909100, rs121909101, rs121909104, rs121909105, rs387906526, rs121918440, rs387906527, rs72552778, rs387906529, rs121918443, rs72552780, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs515726137, rs587777519, rs587777520, rs587777521, rs879255644, rs113090017, rs864321695, rs776869985, rs864321697, rs80338720, rs746155190, rs879255504, rs886041948, rs886042562, rs769910565, rs758069019, rs886043807, rs72549402, rs72549395, rs188824058, rs763782349, rs375315619, rs754287486, rs1057518679, rs1060499649, rs1060499579, rs1554660803, rs1554407511, rs774824767, rs771690686, rs752992432, rs1553466082, rs72549396, rs772294884, rs764513998, rs1202682161, rs759202962, rs1562774655, rs1562831765, rs1562945221, rs917981474, rs1558927163, rs765889649, rs1562976061, rs72549399, rs1459273753, rs377160065, rs1559183717, rs760750012, rs1051861187, rs1558898789, rs928915940, rs752757689, rs1584678508, rs764581483, rs1574453508, rs751511532, rs1182781290, rs376368459, rs762702807, rs1578499691, rs199791850, rs1452792080, rs1458423947, rs1584747270, rs1584750653, rs1599066459, rs1599069873, rs1599166106, rs1574462504, rs1593114820, rs1057524081, rs1588081022, rs777460754, rs1251192873, rs1588117076, rs748671901, rs139314808, rs749009273, rs1588080674, rs1588080680, rs1588127136, rs1588135086, rs757693457, rs1574445178, rs768922690, rs1584422832, rs1584433525, rs1312396424, rs1792048079, rs774411820, rs575729461	24614073
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023	27182965
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	20602916, 18616530, 26668150, 24853665, 24752540, 18172007

Show/Hide Unknown Diseases (4)

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma
Non-syndromic sensorineural deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Portal hypertension	Portal Hypertension
Rickets	Rickets

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