Seroatlas · Human Serome Atlas

TJP2

Tight junction protein 2

Also known as: DFNA51, X104, ZO-2, ZO2, ZO2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UDY2
Gene: TJP2
Ensembl: ENSG00000119139
Chromosome: 9
Canonical length: 1190 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cell Junctions
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1190 residues, UniProt reviewed canonical sequence.

>Q9UDY2|TJP2
     1  MPVRGDRGFP PRRELSGWLR APGMEELIWE QYTVTLQKDS KRGFGIAVSG GRDNPHFENG
    61  ETSIVISDVL PGGPADGLLQ ENDRVVMVNG TPMEDVLHSF AVQQLRKSGK VAAIVVKRPR
   121  KVQVAALQAS PPLDQDDRAF EVMDEFDGRS FRSGYSERSR LNSHGGRSRS WEDSPERGRP
   181  HERARSRERD LSRDRSRGRS LERGLDQDHA RTRDRSRGRS LERGLDHDFG PSRDRDRDRS
   241  RGRSIDQDYE RAYHRAYDPD YERAYSPEYR RGARHDARSR GPRSRSREHP HSRSPSPEPR
   301  GRPGPIGVLL MKSRANEEYG LRLGSQIFVK EMTRTGLATK DGNLHEGDII LKINGTVTEN
   361  MSLTDARKLI EKSRGKLQLV VLRDSQQTLI NIPSLNDSDS EIEDISEIES NRSFSPEERR
   421  HQYSDYDYHS SSEKLKERPS SREDTPSRLS RMGATPTPFK STGDIAGTVV PETNKEPRYQ
   481  EDPPAPQPKA APRTFLRPSP EDEAIYGPNT KMVRFKKGDS VGLRLAGGND VGIFVAGIQE
   541  GTSAEQEGLQ EGDQILKVNT QDFRGLVRED AVLYLLEIPK GEMVTILAQS RADVYRDILA
   601  CGRGDSFFIR SHFECEKETP QSLAFTRGEV FRVVDTLYDG KLGNWLAVRI GNELEKGLIP
   661  NKSRAEQMAS VQNAQRDNAG DRADFWRMRG QRSGVKKNLR KSREDLTAVV SVSTKFPAYE
   721  RVLLREAGFK RPVVLFGPIA DIAMEKLANE LPDWFQTAKT EPKDAGSEKS TGVVRLNTVR
   781  QIIEQDKHAL LDVTPKAVDL LNYTQWFPIV IFFNPDSRQG VKTMRQRLNP TSNKSSRKLF
   841  DQANKLKKTC AHLFTATINL NSANDSWFGS LKDTIQHQQG EAVWVSEGKM EGMDDDPEDR
   901  MSYLTAMGAD YLSCDSRLIS DFEDTDGEGG AYTDNELDEP AEEPLVSSIT RSSEPVQHEE
   961  SIRKPSPEPR AQMRRAASSD QLRDNSPPPA FKPEPPKAKT QNKEESYDFS KSYEYKSNPS
  1021  AVAGNETPGA STKGYPPPVA AKPTFGRSIL KPSTPIPPQE GEEVGESSEE QDNAPKSVLG
  1081  KVKIFEKMDH KARLQRMQEL QEAQNARIEI AQKHPDIYAV PIKTHKPDPG TPQHTSSRPP
  1141  EPQKAPSRPY QDTRGSYGSD AEEEEYRQQL SEHSKRGYYG QSARYRDTEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TJP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 113 nTPM

Expression across tissuesHPA

Tissue

retina: 113 nTPM
spinal cord: 64 nTPM
blood vessel: 62 nTPM
liver: 61 nTPM
esophagus: 58 nTPM
stomach: 55 nTPM

Single-cell type

bergmann glia: 343 nCPM
astrocytes: 113 nCPM
oligodendrocytes: 63 nCPM
foveolar cells: 40 nCPM
tuft cells: 35 nCPM
mucous neck cells: 28 nCPM

Immune cell

non-classical monocyte: 2.3 nTPM
intermediate monocyte: 1 nTPM
T-reg: 0.9 nTPM
classical monocyte: 0.3 nTPM
myeloid DC: 0.2 nTPM
MAIT T-cell: 0.1 nTPM

Brain region

white matter: 110 nTPM
spinal cord: 93 nTPM
pons: 88 nTPM
medulla oblongata: 88 nTPM
hypothalamus: 72 nTPM
cerebellum: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TJP2.

Disease | AllUniProt

Conditions TJP2 is implicated in, by any mechanism.

Hypercholanemia, familial, 1 (FHCA1) MIM:607748
Cholestasis, progressive familial intrahepatic, 4 (PFIC4) MIM:615878

Disease | GeneticClinVar

85 pathogenic / likely-pathogenic of 916 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cholestasis, progressive familial intrahepatic, 4
Hypercholanemia, familial 1
TJP2-related disorder
Autosomal dominant nonsyndromic hearing loss 51
Autosomal recessive nonsyndromic hearing loss 4

Disease | ImmuneIEDB

Conditions an epitope on TJP2 was assayed in.

type 1 diabetes mellitus T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.64
gnomAD pLI: 0
gnomAD missense Z: 0.57
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

SH3 domain
PDZ domain
Tight junction protein ZO
Guanylate kinase-like domain
Guanylate kinase/L-type calcium channel beta subunit
P-loop containing nucleoside triphosphate hydrolase
SH3-like domain superfamily
PDZ superfamily
PDZ domain
Guanylate kinase
Variant SH3 domain
Tight junction protein ZO-2
ZO-2, SH3 domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TJP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TJP2 as an antibody target. Whether an autoantibody or antibody against TJP2 could matter depends on whether native TJP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TJP2 is annotated at the cell surface, where native TJP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TJP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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