MultifacetedProtDB - Bologna Biocomputing Group

Summary of Q9Y6H8

Gene: GJA3
Protein: Gap junction alpha-3 protein

Protein family
Protein sequence
Protein function

Catalytic activity

The protein has not catalytic activity

Publications

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
cataract 14 multiple types	MONDO:0011162	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601885	Orphanet:98984
cataract 14 multiple types	MONDO:0011162	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601885	Orphanet:98991
cataract 14 multiple types	MONDO:0011162	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601885	Orphanet:98993
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98984
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98986
pulverulent cataract	MONDO:0011430	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98995
early-onset nuclear cataract	MONDO:0020376	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98991
early-onset posterior polar cataract	MONDO:0020378	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98993