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Symbol report for GJB3

Stable symbol

HGNC data for GJB3

Approved symbol
GJB3
Approved name

gap junction protein beta 3

Locus type
gene with protein product
HGNC ID
HGNC:4285
Symbol status
Approved
Previous symbols
DFNA2
EKV
Previous names
gap junction protein, beta 3, 31kD (connexin 31)
gap junction protein, beta 3, 31kDa (connexin 31)
erythrokeratodermia variabilis
gap junction protein, beta 3, 31kDa
Alias symbols
CX31
Alias names
connexin 31
Chromosomal location
1p34.3
Gene groups
Gene resources for GJB3
Ensembl
ENSG00000188910 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2707 Curated
UCSC
uc001bxx.4
Alliance of Genome Resources
HGNC:4285
Nucleotide resources for GJB3
MANE Select
NM_024009.3
ENST00000373366.3
INSDC
BC012918 Curated
ENAGenBankDDBJ
RefSeq
NM_024009 Curated
NCBI sequence viewer
CCDS
CCDS384 Curated
Protein resources for GJB3
UniProt/Swiss-Prot
O75712
InterProPDBeReactome
AlphaFold
AF-O75712-F1
Orthologs from selected species for GJB3
Bos taurus
GJB3 VGNC:29378 VGNC
Canis familiaris
GJB3 VGNC:41239 VGNC
Equus caballus
GJB3 VGNC:18356 VGNC
Macaca mulatta
GJB3 VGNC:73061 VGNC
Mus musculus
Gjb3 MGI:95721 Curated
Rattus norvegicus
Gjb3 RGD:2695
Sus scrofa
GJB3 VGNC:88463 VGNC
Specialist resources for GJB3
IUPHAR/BPS Guide to PHARMACOLOGY
720
Clinical resources for GJB3
OMIM
603324
LSDB
The Connexin-deafness homepage Curated
Hereditary Hearing Loss Homepage Curated
GenCC
HGNC:4285
MedlinePlus
Search via GJB3
DECIPHER
Search via GJB3
ClinGen
Search via HGNC:4285
Genetic Testing Registry
Search via NCBI Gene ID 2707
ClinVar
Search via NCBI Gene ID 2707
dbVar
Search via NCBI Gene ID 2707
Orphanet
122135
Other resources for GJB3
AmiGO
Search via O75712
QuickGO
Search via O75712
BioGPS
Search via NCBI Gene ID 2707
GeneCards
Search via HGNC:4285
Monarch
Search via HGNC:4285
WikiGenes
Search via NCBI Gene ID 2707
References for GJB3