TJP2 - tight junction protein 2 Gene

Homo sapiens

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

Gene ID: 9414 | Gene type: protein coding

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

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)

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14554	TJP2 Human 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