full name
gap junction protein beta 6

synonyms
CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6, ENSG00000121742

HGNC
HGNC:4288

Entrez Gene
Gene:10804

ENSEMBL
ENSG00000121742

location
chr: 13
start: 20796101
stop: 20806534
strand: -

OMIM
OMIM:604418: GJB6 (Autosomal dominant inheritance)
OMIM:612643: Deafness, autosomal dominant 3B
OMIM:612645: Deafness, autosomal recessive 1B
OMIM:220290: Deafness, digenic GJB2/GJB6
OMIM:129500: Ectodermal dysplasia 2, Clouston type

transcripts
NM_001110221.2
NM_001110220.2
NM_001110219.2
NM_006783.4

pathways
Calcium Regulation in the Cardiac Cell [NCBI:198906] [WikiPathways:WP536] [PUBMED:12618512]
Gap junction assembly [NCBI:1269886] [REACTOME:R-HSA-190861] [PUBMED:8665925] [PUBMED:15033576]
Gap junction trafficking [NCBI:1269885] [REACTOME:R-HSA-190828] [PUBMED:8522583] [PUBMED:15033576]
Gap junction trafficking and regulation [NCBI:1269884] [REACTOME:R-HSA-157858] [PUBMED:15033576] [PUBMED:9861669] [PUBMED:11146276] [PUBMED:11737941]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]