Gene

gja5b

ID

ZDB-GENE-050616-11

Name

gap junction protein, alpha 5b

Symbol

gja5b Nomenclature History

Previous Names

cx41.8
leo
leopard
tup (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Exhibits gap junction hemi-channel activity. Involved in adult behavior; melanocyte differentiation; and melanocyte migration. Predicted to localize to connexin complex and integral component of membrane. Human ortholog(s) of this gene implicated in atrial fibrillation; familial atrial fibrillation; and tetralogy of Fallot. Is expressed in brain; eye; fin; heart; and integument. Orthologous to human GJA5 (gap junction protein alpha 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 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: 28 figures from 14 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gja5b 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 gja5b 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
Family	IPR002264	Gap junction alpha-5 protein (Cx40)
Homologous_superfamily	IPR034634	Connexin, C-terminal
Homologous_superfamily	IPR038359	Connexin, N-terminal domain superfamily