TJP2 - tight junction protein 2 Gene

Also Known as ZO2; X104; FHCA1; PFIC4; DFNA51; DUP9q21.11; C9DUPq21.11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9414

About TJP2

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:69,121,264-69,255,208 (from NCBI)

This gene has 31 transcripts (splice variants), 246 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in lung (RPKM 15.3), fat (RPKM 14.2) and 25 other tissues.

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]

TJP2 Products (11)

mRNA	Protein	Name
NM_001170414.2	NP_001163885.1	tight junction protein ZO-2 isoform 5
NM_001170415.1	NP_001163886.1	tight junction protein ZO-2 isoform 4
NM_001170416.2	NP_001163887.1	tight junction protein ZO-2 isoform 3
NM_001369870.1	NP_001356799.1	tight junction protein ZO-2 isoform 6
NM_001369871.1	NP_001356800.1	tight junction protein ZO-2 isoform 7
NM_001369872.1	NP_001356801.1	tight junction protein ZO-2 isoform 8
NM_001369873.1	NP_001356802.1	tight junction protein ZO-2 isoform 9
NM_001369874.1	NP_001356803.1	tight junction protein ZO-2 isoform 10
NM_001369875.1	NP_001356804.1	tight junction protein ZO-2 isoform 11
NM_004817.4	NP_004808.2	tight junction protein ZO-2 isoform 1
NM_201629.3	NP_963923.1	tight junction protein ZO-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15975580	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	23885123	GOA
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	21679692	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	23885123	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of endothelial intestinal barrier	IMP IMP: Inferred from mutant phenotype	23885123	GOA
involved in homotypic cell-cell adhesion	IDA IDA: Inferred from direct assay	21679692	GOA
involved in intestinal absorption	IMP IMP: Inferred from mutant phenotype	23885123	GOA
involved in positive regulation of blood-brain barrier permeability	IMP IMP: Inferred from mutant phenotype	19148554	GOA
involved in regulation of membrane permeability	IMP IMP: Inferred from mutant phenotype	23885123	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in bicellular tight junction	IDA IDA: Inferred from direct assay	22006950	GOA
located in cell-cell contact zone	IDA IDA: Inferred from direct assay	21679692	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20868367	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11090614	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TJP2 Protein Structure

PDZ

SH3_2

Guanylate_kin

0
200
400
600
800
1000
1190 a.a.

Protein Preferred Names	Protein Names
tight junction protein ZO-2	Friedreich ataxia region gene X104 (tight junction protein ZO-2)

TJP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TJP2	Q9UDY2	LASP1	Homo sapiens	Q14847	Far-WB	22665060
Intra	TJP2	Q9UDY2	LASP1	Homo sapiens	Q14847	Anti Bait CoIP	22665060

Cross: Cross-species interaction Intra: Intraspecies interaction

TJP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810164	ZO-2 Antibody (YA9508)	WB, ICC/IF, IF-Tissue, ELISA	human

Related Diseases

Diseases	Alias
Cholestasis, Progressive Familial Intrahepatic, 4	PFIC4 Progressive Familial Intrahepatic Cholestasis 4 Cholestasis, Progressive Familial Intrahepatic 4 Tjp2 Deficit Progressive Familial Intrahepatic Cholestasis-4 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Progressive Familial Intrahepatic Cholestasis Type 4 Cholestasis, Intrahepatic, Familial, Progressive, Type 4 Bile Acid Synthesis Defect, Congenital, 1
Hypercholanemia, Familial 1	FHCA1 Bile Acid, Elevated Serum Hypercholanemia, Familial, 1
Deafness, Autosomal Dominant 51	Chromosome 9q21.11 Duplication Syndrome DFNA51 Autosomal Dominant Nonsyndromic Deafness 51 Autosomal Dominant Deafness 51 Deafness, Autosomal Dominant, Type 51
Familial Hypercholanemia	Hypercholanemia, Familial Hereditary Hypercholanemia
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Branchiootorenal Syndrome 1	Melnick-Fraser Syndrome BOR1 Branchiootorenal Dysplasia Branchiootorenal Syndrome 1, With Or Without Cataracts Bor Syndrome 1 Branchiootorenal Dysplasia 1 Branchio-Oto-Renal Dysplasia 1 Branchio-Oto-Renal Syndrome Type 1 Branchiootorenal Syndrome, With/Without Cataract, Type 1 Branchio-Oto-Renal Syndrome
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Cholestasis, Progressive Familial Intrahepatic, 2	PFIC2 Cholestasis, Progressive Familial Intrahepatic 2 Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis 2 Bsep Deficiency Recurrent Familial Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis 2 Severe Abcb11 Deficiency Bric2 Cholestasis, Benign Recurrent Intrahepatic 2 Mild Abcb11 Deficiency Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Cholestasis, Progressive Familial Intrahepatic, 5	PFIC5 Progressive Familial Intrahepatic Cholestasis 5 Nr1h4 Deficiency Progressive Familial Intrahepatic Cholestasis Type 5 Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Cholestasis, Progressive Familial Intrahepatic, 3	PFIC3 Cholestasis, Progressive Familial Intrahepatic 3 Mdr3 Deficiency Progressive Familial Intrahepatic Cholestasis Type 3 Progressive Familial Intrahepatic Cholestasis 3 Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Cholestasis, Benign Recurrent Intrahepatic, 2	BRIC2 Benign Recurrent Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis Type 2 Bric Type 2 Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 Cholestasis, Benign Recurrent Intrahepatic 2
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cholestasis, Intrahepatic, Of Pregnancy 3	ICP3 Cholestasis, Intrahepatic, Of Pregnancy, 3 Intrahepatic Cholestasis Of Pregnancy 3 Pregnancy Related Cholestasis 3 Cholestasis Of Pregnancy, Intrahepatic 3 Cholestasis, Intrahepatic, Of Pregnancy, Type 3
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Intracranial Embolism	Cerebral Embolism Cerebral Embolism With Cerebral Infarction
Otosclerosis	Otospongiosis
Meckel Diverticulum	Meckel'S Diverticulum Persistent Vitelline Duct
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14554	TJP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22344	Tjp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28866	Tjp2 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TJP2	MGD	MGI:1341872
Felis catus	TJP2	VGNC	VGNC:102994
Canis familiaris	TJP2	VGNC	VGNC:47387
Bos taurus	TJP2	VGNC	VGNC:35882
Rattus norvegicus	TJP2	RGD	RGD:619807
Others	TJP2	NCBI