GJB2

GJB2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2ZW3, 3IZ1, 3IZ2, 5ERA, 5ER7
Identifiers
Aliases	GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction protein beta 2
External IDs	MGI: 95720 HomoloGene: 2975 GeneCards: GJB2
Targeted by Drug
carbenoxolone, flufenamic acid, caprylic alcohol
Gene ontology Molecular function • gap junction channel activity Cellular component • cytoplasm • integral component of membrane • connexin complex • lateral plasma membrane • membrane • plasma membrane • cell junction • gap junction • endoplasmic reticulum-Golgi intermediate compartment • cytosol • cell body • perinuclear region of cytoplasm • astrocyte projection Biological process • response to estradiol • response to progesterone • female pregnancy • cell-cell signaling • sensory perception of sound • cell communication • decidualization • response to human chorionic gonadotropin • transmembrane transport • transport • gap junction assembly • cellular response to oxidative stress • response to ischemia • aging • response to lipopolysaccharide • response to retinoic acid • response to antibiotic • inner ear development • cellular response to glucagon stimulus • cellular response to dexamethasone stimulus • epididymis development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2706	14619
Ensembl	ENSG00000165474	ENSMUSG00000046352
UniProt	P29033	Q00977
RefSeq (mRNA)	NM_004004	NM_008125
RefSeq (protein)	NP_003995	NP_032151.1 NP_032151
Location (UCSC)	Chr 13: 20.19 – 20.19 Mb	Chr 14: 57.1 – 57.1 Mb
PubMed search

2ZW3, 3IZ1, 3IZ2, 5ERA, 5ER7

2706

14619

ENSG00000165474

ENSMUSG00000046352

P29033

Q00977

NM_004004

NM_008125

NP_003995

NP_032151.1
NP_032151

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness).

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. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (MIM 121014) is designated alpha-1 gap junction protein, whereas CX32 (GJB1; MIM 304040) and CX26 (this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to CX43.

...
Wikipedia