1. Gene
  2. TJP2 - tight junction protein 2 Gene

TJP2 - tight junction protein 2 Gene

中文名称:紧密连接蛋白 2

种属: Homo sapiens

同用名: ZO2; X104; FHCA1; PFIC4; DFNA51; DUP9q21.11; C9DUPq21.11

基因 ID: 9414 | 基因类型: protein coding

关于 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.

功能概要

该基因编码封闭小带,它是膜相关鸟苷酸激酶同系物家族的成员。编码的蛋白质作为上皮细胞和内皮细胞中紧密连接屏障的一个组成部分起作用,并且是正确组装紧密连接所必需的。已在患有高胆碱血症的患者中鉴定出该基因的突变,并且包括该基因在内的 270 kb 区域的基因组重复会导致常染色体显性耳聋 - 51。已经观察到该基因编码多种亚型的可变剪接转录物。[RefSeq 提供,2011 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15975580 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
23885123 GOA
enables protein tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
21679692 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
23885123 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in establishment of endothelial intestinal barrier IMP
IMP: 通过突变表型推断
23885123 GOA
involved in homotypic cell-cell adhesion IDA
IDA: 通过直接分析推断
21679692 GOA
involved in intestinal absorption IMP
IMP: 通过突变表型推断
23885123 GOA
involved in positive regulation of blood-brain barrier permeability IMP
IMP: 通过突变表型推断
19148554 GOA
involved in regulation of membrane permeability IMP
IMP: 通过突变表型推断
23885123 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bicellular tight junction IDA
IDA: 通过直接分析推断
22006950 GOA
located in cell-cell contact zone IDA
IDA: 通过直接分析推断
21679692 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20868367 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11090614 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TJP2 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (33 - 116)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (303 - 382)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (516 - 583)

SH3_2

SH3_2: Variant SH3 domain (608 - 667)

Guanylate_kin

Guanylate_kin: Guanylate kinase (777 - 877)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1190 a.a.
蛋白主名 其他名称

tight junction protein ZO-2

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

TJP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TJP2 Q9UDY2 LASP1 Homo sapiens Q14847
Far-WB
22665060
种属内
TJP2 Q9UDY2 LASP1 Homo sapiens Q14847
Anti Bait CoIP
22665060
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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