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, BAPS
External IDs	OMIM: 121011; MGI: 95720; HomoloGene: 2975; GeneCards: GJB2; OMA:GJB2 - orthologs
Gene location (Human)
Chr.	Chromosome 13 (human)
End	20,192,938 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	57,342,159 bp
RNA expression pattern
	Top expressed in
	gingival epithelium; ; human penis; ; mucosa of pharynx; ; skin of arm; ; body of tongue; ; oral cavity; ; vulva; ; skin of thigh; ; pancreatic ductal cell; ; skin of abdomen;
	Top expressed in
	stria vascularis; ; hair follicle; ; meninges; ; superior surface of tongue; ; utricle; ; left lobe of liver; ; vestibular membrane of cochlear duct; ; cervix; ; lactiferous gland; ; lip;
	More reference expression data
	n/a
Gene ontology
Molecular function	identical protein binding; gap junction channel activity; calcium ion binding; metal ion binding;
Cellular component	integral component of membrane; connexin complex; membrane; plasma membrane; cell junction; gap junction; endoplasmic reticulum-Golgi intermediate compartment; cytoplasm; cytosol; lateral plasma membrane; cell body; perinuclear region of cytoplasm; astrocyte projection; integral component of plasma membrane;
Biological process	hearing; cell communication; cell-cell signaling; gap junction assembly; response to ischemia; female pregnancy; human ageing; response to estradiol; response to lipopolysaccharide; response to retinoic acid; response to progesterone; cellular response to oxidative stress; response to human chorionic gonadotropin; response to antibiotic; decidualization; inner ear development; transmembrane transport; cellular response to glucagon stimulus; cellular response to dexamethasone stimulus; epididymis development; gap junction-mediated intercellular transport;
	Sources:Amigo / QuickGO
Orthologs
	2706
	14619
	ENSG00000165474
	ENSMUSG00000046352
	P29033
	Q00977
	NM_004004
	NM_008125
	NP_003995
	NP_032151
	Wikidata
View/Edit Human	View/Edit Mouse

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165474 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046352 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165474 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000046352 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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