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.^[5]^[6]^[7] Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear.^[8] Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness.^[9] Mutations in this gene are associated with Clouston syndrome (i.e., hydrotic ectodermal dysplasia).

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121742 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040055 – 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.
^ Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (September 1999). "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus". Nature Genetics. 23 (1): 16–8. doi:10.1038/12612. PMID 10471490. S2CID 29044968.
^ Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA (April 1996). "The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q". Human Molecular Genetics. 5 (4): 543–7. doi:10.1093/hmg/5.4.543. PMID 8845850.
^ "Entrez Gene: GJB6 gap junction protein, beta 6".
^ Zhao HB, Kikuchi T, Ngezahayo A, White TW (2006). "Gap junctions and cochlear homeostasis". The Journal of Membrane Biology. 209 (2–3): 177–86. doi:10.1007/s00232-005-0832-x. PMC 1609193. PMID 16773501.
^ Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA (April 2004). "Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss". The Laryngoscope. 114 (4): 607–11. doi:10.1097/00005537-200404000-00003. PMID 15064611. S2CID 25847431.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121742 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040055 – 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.

[pmid10471490-5] Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (September 1999). "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus". Nature Genetics. 23 (1): 16–8. doi:10.1038/12612. PMID 10471490. S2CID 29044968.

[pmid8845850-6] Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau GA (April 1996). "The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q". Human Molecular Genetics. 5 (4): 543–7. doi:10.1093/hmg/5.4.543. PMID 8845850.

[entrez-7] "Entrez Gene: GJB6 gap junction protein, beta 6".

[Zhao-8] Zhao HB, Kikuchi T, Ngezahayo A, White TW (2006). "Gap junctions and cochlear homeostasis". The Journal of Membrane Biology. 209 (2–3): 177–86. doi:10.1007/s00232-005-0832-x. PMC 1609193. PMID 16773501.

[9] Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA (April 2004). "Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss". The Laryngoscope. 114 (4): 607–11. doi:10.1097/00005537-200404000-00003. PMID 15064611. S2CID 25847431.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]