Gene

gja5a

ID

ZDB-GENE-040407-3

Name

gap junction protein, alpha 5a

Symbol

gja5a Nomenclature History

Previous Names

cx45.6
zgc:195347
zgc:195362

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Enables gap junction channel activity. Predicted to act upstream of or within cell communication. Predicted to be located in gap junction. Predicted to be part of connexin complex. Is expressed in several structures, including cardiovascular system; digestive system; nervous system; pleuroperitoneal region; and skeletal muscle. Human ortholog(s) of this gene implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Orthologous to human GJA5 (gap junction protein alpha 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 gja5a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
atrial standstill 1	Alliance	Atrial standstill, digenic (GJA5/SCN5A)	108770
familial atrial fibrillation	Alliance	Atrial fibrillation, familial, 11	614049

Associated With gja5a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017990	Connexin, conserved site
Domain	IPR013092	Connexin, N-terminal
Domain	IPR019570	Gap junction protein, cysteine-rich domain
Domain	IPR031862	Gap junction alpha-5 protein (Cx40), C-terminal
Family	IPR000500	Connexin
Homologous_superfamily	IPR034634	Connexin, C-terminal
Homologous_superfamily	IPR038359	Connexin, N-terminal domain superfamily