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Symbol report for GJB1

Stable symbol

HGNC data for GJB1

Approved symbol
GJB1
Approved name

gap junction protein beta 1

Locus type
gene with protein product
HGNC ID
HGNC:4283
Symbol status
Approved
Previous symbols
CMTX1
CMTX
Previous names
gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
gap junction protein, beta 1, 32kDa (connexin 32)
gap junction protein, beta 1, 32kDa
Alias symbols
CX32
Alias names
Charcot-Marie-Tooth neuropathy, X-linked
connexin 32
Chromosomal location
Xq13.1
Gene groups
Gene resources for GJB1
Ensembl
ENSG00000169562 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2705 Curated
UCSC
uc004dzf.4
Alliance of Genome Resources
HGNC:4283
Nucleotide resources for GJB1
MANE Select
NM_000166.6
ENST00000361726.7
INSDC
X04325 Curated
ENAGenBankDDBJ
RefSeq
NM_000166 Curated
NCBI sequence viewer
CCDS
CCDS14408 Curated
Protein resources for GJB1
UniProt/Swiss-Prot
P08034
InterProPDBeReactome
AlphaFold
AF-P08034-F1
Orthologs from selected species for GJB1
Bos taurus
GJB1 VGNC:29376 VGNC
Canis familiaris
GJB1 VGNC:41237 VGNC
Equus caballus
GJB1 VGNC:18354 VGNC
Felis catus
GJB1 VGNC:62565 VGNC
Macaca mulatta
GJB1 VGNC:73059 VGNC
Mus musculus
Gjb1 MGI:95719 Curated
Pan troglodytes
GJB1 VGNC:2716 VGNC
Rattus norvegicus
Gjb1 RGD:61926
Sus scrofa
GJB1 VGNC:88462 VGNC
Specialist resources for GJB1
IUPHAR/BPS Guide to PHARMACOLOGY
723
Clinical resources for GJB1
OMIM
304040
LRG
LRG_245 Curated
LSDB
Inherited Peripheral Neuropathies Mutation Database Curated
LOVD GJB1 homepage Curated
GenCC
HGNC:4283
MedlinePlus
Search via GJB1
DECIPHER
Search via GJB1
ClinGen
Search via HGNC:4283
Genetic Testing Registry
Search via NCBI Gene ID 2705
ClinVar
Search via NCBI Gene ID 2705
dbVar
Search via NCBI Gene ID 2705
Orphanet
122124
Other resources for GJB1
AmiGO
Search via P08034
QuickGO
Search via P08034
BioGPS
Search via NCBI Gene ID 2705
GeneCards
Search via HGNC:4283
Monarch
Search via HGNC:4283
WikiGenes
Search via NCBI Gene ID 2705
References for GJB1