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TJP2 tight junction protein 2 [ Homo sapiens (human) ]

Gene ID: 9414, updated on 3-Mar-2019

Summary

Official Symbol
TJP2provided by HGNC
Official Full Name
tight junction protein 2provided by HGNC
Primary source
HGNC:HGNC:11828
See related
Ensembl:ENSG00000119139 MIM:607709
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZO2; X104; PFIC4; DFNA51; DUP9q21.11; C9DUPq21.11
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]
Expression
Ubiquitous expression in lung (RPKM 15.3), fat (RPKM 14.2) and 25 other tissues See more
Orthologs

Genomic context

See TJP2 in Genome Data Viewer
Location:
9q21.11
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (69121006..69255208)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71714875..71870124)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Friedreich ataxia repeat instability region Neighboring gene protein kinase cAMP-activated catalytic subunit gamma Neighboring gene frataxin Neighboring gene BRAF-activated non-protein coding RNA Neighboring gene family with sequence similarity 189 member A2 Neighboring gene uncharacterized LOC105376074

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypercholanemia, familial
MedGen: C1843139 OMIM: 607748 GeneReviews: Not available
Compare labs
Progressive familial intrahepatic cholestasis 4
MedGen: C2931067 OMIM: 615878 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of cultured human brain endothelial cells with HIV-1 gp120 results in increased permeability of the endothelial monolayer and causes disruption and downregulation of the tight junction proteins ZO-1, ZO-2, and occludin in these cells PubMed
Tat tat Exposure of brain micro vascular endothelial cells to HIV-1 Tat results in a decrease of claudin-1, claudin-5, and zonula occludens-2 expression and cellular redistribution of claudin-5, suggesting potential disturbance of the blood-brain barrier by Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hippo, organism-specific biosystem (from REACTOME)
    Signaling by Hippo, organism-specific biosystemHuman Hippo signaling is a network of reactions that regulates cell proliferation and apoptosis, centered on a three-step kinase cascade. The cascade was discovered by analysis of Drosophila mutation...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional repression, organism-specific biosystem
    Validated targets of C-MYC transcriptional repression
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26306

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
guanylate kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GDP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
establishment of endothelial intestinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
hippo signaling TAS
Traceable Author Statement
more info
 
intestinal absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
adherens junction IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tight junction protein ZO-2
Names
Friedreich ataxia region gene X104 (tight junction protein ZO-2)
zona occludens 2
zonula occludens protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016342.2 RefSeqGene

    Range
    78371..159302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1201

mRNA and Protein(s)

  1. NM_001170414.2NP_001163885.1  tight junction protein ZO-2 isoform 5

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AA724570, AI738923, AK295016, CX865985, DA270962, DB196171
    Consensus CDS
    CCDS55317.1
    UniProtKB/TrEMBL
    B7Z2R3
    Related
    ENSP00000392178.2, ENST00000453658.6
    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  2. NM_001170415.1NP_001163886.1  tight junction protein ZO-2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) 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 (4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK302483, AL358113, DC325189
    Consensus CDS
    CCDS55315.1
    UniProtKB/Swiss-Prot
    Q9UDY2
    Related
    ENSP00000442090.1, ENST00000535702.6
    Conserved Domains (5) summary
    cd12027
    Location:608670
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:704883
    GuKc; Guanylate kinase homologues
    COG0265
    Location:306396
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:36121
    PDZ_signaling; 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) ...
    pfam00595
    Location:303386
    PDZ; PDZ domain (Also known as DHR or GLGF)
  3. NM_001170416.1NP_001163887.1  tight junction protein ZO-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK295034, AL358113
    Consensus CDS
    CCDS55316.1
    UniProtKB/Swiss-Prot
    Q9UDY2
    Related
    ENSP00000438262.1, ENST00000539225.2
    Conserved Domains (5) summary
    cd12027
    Location:635697
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:731910
    GuKc; Guanylate kinase homologues
    COG0265
    Location:333423
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:63148
    PDZ_signaling; 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) ...
    pfam00595
    Location:330413
    PDZ; PDZ domain (Also known as DHR or GLGF)
  4. NM_004817.4NP_004808.2  tight junction protein ZO-2 isoform 1

    See identical proteins and their annotated locations for NP_004808.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1).
    Source sequence(s)
    AL358113, BC027592, DB090695, L27476
    Consensus CDS
    CCDS6627.1
    UniProtKB/Swiss-Prot
    Q9UDY2
    Related
    ENSP00000497941.1, ENST00000648204.1
    Conserved Domains (5) summary
    cd12027
    Location:604666
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:700879
    GuKc; Guanylate kinase homologues
    COG0265
    Location:302392
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:32117
    PDZ_signaling; 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) ...
    pfam00595
    Location:299382
    PDZ; PDZ domain (Also known as DHR or GLGF)
  5. NM_201629.3NP_963923.1  tight junction protein ZO-2 isoform 2

    See identical proteins and their annotated locations for NP_963923.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the 3' coding region, compared to variant (1). The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA724570, AK295016, AK304447, AL358113, DB090695
    Consensus CDS
    CCDS6628.1
    UniProtKB/TrEMBL
    B7Z2R3, B7Z954
    Related
    ENSP00000345893.4, ENST00000348208.9
    Conserved Domains (5) summary
    cd12027
    Location:604666
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:700879
    GuKc; Guanylate kinase homologues
    COG0265
    Location:302392
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:32117
    PDZ_signaling; 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) ...
    pfam00595
    Location:299382
    PDZ; PDZ domain (Also known as DHR or GLGF)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    69121006..69255208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519206.2XP_011517508.1  tight junction protein ZO-2 isoform X3

    See identical proteins and their annotated locations for XP_011517508.1

    UniProtKB/Swiss-Prot
    Q9UDY2
    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  2. XM_011519208.2XP_011517510.1  tight junction protein ZO-2 isoform X3

    See identical proteins and their annotated locations for XP_011517510.1

    UniProtKB/Swiss-Prot
    Q9UDY2
    Related
    ENSP00000489860.1, ENST00000636438.1
    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  3. XM_011519207.2XP_011517509.1  tight junction protein ZO-2 isoform X3

    See identical proteins and their annotated locations for XP_011517509.1

    UniProtKB/Swiss-Prot
    Q9UDY2
    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  4. XM_011519204.1XP_011517506.1  tight junction protein ZO-2 isoform X2

    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  5. XM_017015327.2XP_016870816.1  tight junction protein ZO-2 isoform X4

    Related
    ENSP00000497539.1, ENST00000649943.1
  6. XM_011519209.2XP_011517511.1  tight junction protein ZO-2 isoform X3

    See identical proteins and their annotated locations for XP_011517511.1

    UniProtKB/Swiss-Prot
    Q9UDY2
    Conserved Domains (5) summary
    cd12027
    Location:581643
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:677856
    GuKc; Guanylate kinase homologues
    COG0265
    Location:279369
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:994
    PDZ_signaling; 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) ...
    pfam00595
    Location:276359
    PDZ; PDZ domain (Also known as DHR or GLGF)
  7. XM_017015328.1XP_016870817.1  tight junction protein ZO-2 isoform X5

    Related
    ENSP00000498068.1, ENST00000649134.1
  8. XM_005252314.2XP_005252371.1  tight junction protein ZO-2 isoform X1

    Related
    ENSP00000497861.1, ENST00000650084.1
    Conserved Domains (5) summary
    cd12027
    Location:608670
    SH3_ZO-2; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 2
    smart00072
    Location:704883
    GuKc; Guanylate kinase homologues
    COG0265
    Location:306396
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00992
    Location:36121
    PDZ_signaling; 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) ...
    pfam00595
    Location:303386
    PDZ; PDZ domain (Also known as DHR or GLGF)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001170630.1: Suppressed sequence

    Description
    NM_001170630.1: This RefSeq was removed because currently there is insufficient support for the transcript.
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