GJB6

GJB6
Identifiers
Aliases	GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 6
External IDs	OMIM: 604418; MGI: 107588; HomoloGene: 4936; GeneCards: GJB6; OMA:GJB6 - orthologs
Gene location (Human)
Chr.	Chromosome 13 (human)
End	20,232,365 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	57,371,068 bp
RNA expression pattern
	Top expressed in
	skin of arm; ; gums; ; gingival epithelium; ; human penis; ; vulva; ; mucosa of pharynx; ; oral cavity; ; skin of thigh; ; body of tongue; ; skin of hip;
	Top expressed in
	utricle; ; stria vascularis; ; transitional epithelium of urinary bladder; ; deep cerebellar nuclei; ; vestibular membrane of cochlear duct; ; mammillary body; ; cerebellar cortex; ; vestibular sensory epithelium; ; lumbar subsegment of spinal cord; ; medial vestibular nucleus;
	More reference expression data
	n/a
Orthologs
	10804
	14623
	ENSG00000121742
	ENSMUSG00000040055
	O95452
	P70689
NM_006783; NM_001110219; NM_001110220; NM_001110221; NM_001370090;
	NM_001370091; NM_001370092
	NM_001010937; NM_001271663; NM_008128
NP_001103689; NP_001103690; NP_001103691; NP_006774; NP_001357019;
	NP_001357020; NP_001357021
	NP_001010937; NP_001258592
	Wikidata
View/Edit Human	View/Edit Mouse

Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated with Clouston syndrome (i.e., hydrotic ectodermal dysplasia).