Gene

tjp2a

ID

ZDB-GENE-070925-2

Name

tight junction protein 2a (zona occludens 2)

Symbol

tjp2a Nomenclature History

Previous Names

tjp2.1 (1)
wu:fb10a11
zo-2.1 (1)

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Description

Predicted to localize to bicellular tight junction. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 51; disease of metabolism; and progressive familial intrahepatic cholestasis 4. Is expressed in several structures, including digestive system; epidermis; nervous system; pronephros; and vasculature. Orthologous to human TJP2 (tight junction protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tjp2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
progressive familial intrahepatic cholestasis 4	Alliance	Cholestasis, progressive familial intrahepatic 4	615878
		Hypercholanemia, familial 1	607748

Associated With tjp2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001452	SH3 domain
Domain	IPR001478	PDZ domain
Domain	IPR008144	Guanylate kinase-like domain
Domain	IPR008145	Guanylate kinase/L-type calcium channel beta subunit
Family	IPR005417	Tight junction protein ZO
Family	IPR005419	Tight junction protein ZO-2
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036028	SH3-like domain superfamily
Homologous_superfamily	IPR036034	PDZ superfamily