GJB2, Official Symbol GJB2provided by HGNC Official Full Name gap junction protein beta 2provided by HGNC Primary source HGNC:HGNC:4284 See related Ensembl:ENSG00000165474 MIM:121011; AllianceGenome:HGNC:4284 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HID; KID; PPK; BAPS; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A Summary This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] Expression Biased expression in esophagus (RPKM 338.5) and skin (RPKM 18.9) See more Orthologs mouse all