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Symbol report for GJB6

Stable symbol

HGNC data for GJB6

Approved symbol
GJB6
Approved name

gap junction protein beta 6

Locus type
gene with protein product
HGNC ID
HGNC:4288
Symbol status
Approved
Previous symbols
DFNA3
ED2
Previous names
ectodermal dysplasia 2, hidrotic (Clouston syndrome)
gap junction protein, beta 6 (connexin 30)
gap junction protein, beta 6
gap junction protein, beta 6, 30kDa
Alias symbols
EDH
HED
CX30
Alias names
connexin 30
Chromosomal location
13q12.11
Gene groups
Gene resources for GJB6
Ensembl
ENSG00000121742 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
10804 Curated
UCSC
uc001unc.5
Alliance of Genome Resources
HGNC:4288
Nucleotide resources for GJB6
MANE Select
NM_001110219.3
ENST00000647029.1
INSDC
AJ005585 Curated
ENAGenBankDDBJ
RefSeq
NM_001110219
NCBI sequence viewer
CCDS
CCDS9291 Curated
Protein resources for GJB6
UniProt/Swiss-Prot
O95452
InterProPDBeReactome
AlphaFold
AF-O95452-F1
Orthologs from selected species for GJB6
Bos taurus
GJB6 VGNC:29381 VGNC
Canis familiaris
GJB6 VGNC:41242 VGNC
Equus caballus
GJB6 VGNC:18359 VGNC
Felis catus
GJB6 VGNC:62567 VGNC
Macaca mulatta
GJB6 VGNC:73064 VGNC
Mus musculus
Gjb6 MGI:107588 Curated
Pan troglodytes
GJB6 VGNC:5062 VGNC
Rattus norvegicus
Gjb6 RGD:621830
Sus scrofa
GJB6 VGNC:88466 VGNC
Specialist resources for GJB6
IUPHAR/BPS Guide to PHARMACOLOGY
717
Clinical resources for GJB6
OMIM
604418
LRG
LRG_1395 Curated
LSDB
The Connexin-deafness homepage Curated
Hereditary Hearing Loss Homepage Curated
CCHMC-BMI & UC Hearing Loss Mutation Database Curated
GenCC
HGNC:4288
MedlinePlus
Search via GJB6
DECIPHER
Search via GJB6
ClinGen
Search via HGNC:4288
Genetic Testing Registry
Search via NCBI Gene ID 10804
ClinVar
Search via NCBI Gene ID 10804
dbVar
Search via NCBI Gene ID 10804
Orphanet
122142
Other resources for GJB6
AmiGO
Search via O95452
QuickGO
Search via O95452
BioGPS
Search via NCBI Gene ID 10804
GeneCards
Search via HGNC:4288
Monarch
Search via HGNC:4288
WikiGenes
Search via NCBI Gene ID 10804
References for GJB6