full name
gap junction protein gamma 2

synonyms
CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, GJC2, ENSG00000198835

HGNC
HGNC:17494

Entrez Gene
Gene:57165

ENSEMBL
ENSG00000198835

location
chr: 1
start: 228337415
stop: 228347527
strand: +

OMIM
OMIM:608803: GJC2 (Autosomal recessive inheritance)
OMIM:608804: Leukodystrophy, hypomyelinating, 2
OMIM:613480: Lymphedema, hereditary, IC
OMIM:613206: Spastic paraplegia 44, autosomal recessive

transcripts
NM_020435.3

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]