Gene

gja8b

ID

ZDB-GENE-010607-3

Name

gap junction protein alpha 8 paralog b

Symbol

gja8b Nomenclature History

Previous Names

cx44.1 (1)
zfCx44.1 (1)
zgc:110520

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Enables gap junction hemi-channel activity. Predicted to act upstream of or within cell communication. Predicted to be located in plasma membrane. Predicted to be part of connexin complex. Is expressed in several structures, including eye; kidney; liver; solid lens vesicle; and spinal cord. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Orthologous to human GJA8 (gap junction protein alpha 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

13 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu59 (6 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Ping et al., 2021
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gja8b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
cataract 1 multiple types	Alliance	Cataract 1, multiple types	116200

Associated With gja8b 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
Family	IPR000500	Connexin
Family	IPR002266	Gap junction alpha-8 protein (Cx50)
Homologous_superfamily	IPR034634	Connexin, C-terminal
Homologous_superfamily	IPR038359	Connexin, N-terminal domain superfamily