full name
gap junction protein beta 2

synonyms
CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2, ENSG00000165474

HGNC
HGNC:4284

Entrez Gene
Gene:2706

ENSEMBL
ENSG00000165474

location
chr: 13
start: 20761602
stop: 20768605
strand: -

OMIM
OMIM:121011: GJB2 (Autosomal dominant inheritance)
OMIM:149200: Bart-Pumphrey syndrome
OMIM:601544: Deafness, autosomal dominant 3A
OMIM:220290: Deafness, autosomal recessive 1A
OMIM:602540: Hystrix-like ichthyosis with deafness
OMIM:148210: Keratitis-ichthyosis-deafness syndrome
OMIM:148350: Keratoderma, palmoplantar, with deafness
OMIM:124500: Vohwinkel syndrome

transcripts
NM_004004.5

pathways
Gap junction assembly [NCBI:1269886] [REACTOME:R-HSA-190861] [PUBMED:15033576] [PUBMED:8665925]
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:11737941] [PUBMED:9861669] [PUBMED:11146276]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Oligomerization of connexins into connexons [NCBI:1269888] [REACTOME:R-HSA-190704] [PUBMED:9184217] [PUBMED:11985493] [PUBMED:10191254] [PUBMED:10231375] [PUBMED:7691412] [PUBMED:12829738] [PUBMED:16723732]
Transport of connexins along the secretory pathway [NCBI:1269887] [REACTOME:R-HSA-190827] [PUBMED:7691412] [PUBMED:10231375] [PUBMED:16490353] [PUBMED:9184217] [PUBMED:10191254]
Transport of connexons to the plasma membrane [NCBI:1269889] [REACTOME:R-HSA-190872] [PUBMED:7691412] [PUBMED:8522583] [PUBMED:17289573] [PUBMED:12149451] [PUBMED:8404537]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]