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GJB6

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…

Function, Clinical significance & Overview

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Function

13 related topics

Clinical significance

3 related topics

Overview

4 related topics

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Aliases
GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 6
Band
13q12.11 · 14 C3|14 30.1 cM
Bgee
skin of arm · gums · gingival epithelium · human penis · vulva
BioGPS
n/a
Chr.
Chromosome 13 (human) · Chromosome 14 (mouse)
Databases
NCBI: entry; OMA: entry

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Overview

Function

Clinical significance

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Map overview Semantic statistics

GJB6

Nodes24
Edges23
Triples60
Avg. degree1.92
Density0.083333
Components1

How this topic connects Entity context

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GJB6

Top relations

Bgee · 20
GJB6 → body of tongue, cerebellar cortex, deep cerebellar nuclei, gingival epithelium, gums, human penis, lumbar subsegment of spinal cord, mammillary body, medial vestibular nucleus, mucosa of pharynx, oral cavity, skin of arm, skin of hip, skin of thigh, stria vascularis, transitional epithelium of urinary bladder, utricle, vestibular membrane of cochlear duct, vestibular sensory epithelium, vulva
RNA expression pattern · 20
GJB6 → body of tongue, cerebellar cortex, deep cerebellar nuclei, gingival epithelium, gums, human penis, lumbar subsegment of spinal cord, mammillary body, medial vestibular nucleus, mucosa of pharynx, oral cavity, skin of arm, skin of hip, skin of thigh, stria vascularis, transitional epithelium of urinary bladder, utricle, vestibular membrane of cochlear duct, vestibular sensory epithelium, vulva
Band · 2
GJB6 → 13q12.11, 14 C3|14 30.1 cM
Chr. · 2
GJB6 → Chromosome 13 (human), Chromosome 14 (mouse)
End · 2
GJB6 → 20,232,365 bp, 57,371,068 bp
Aliases · 1
GJB6 → GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 6
BioGPS · 1
GJB6 → n/a
Databases · 1
GJB6 → NCBI: entry; OMA: entry
Ensembl · 1
GJB6 → ENSG00000121742
Entrez · 1
GJB6 → 10804

Important terminology Word statistics

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Important terminology

cx30 connexin gap junction 30 found cx26 protein bp gene expression cells chr human band channels connexins cell mice mouse

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
GJB6AliasesGJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 61.00infobox
GJB6Band13q12.111.00infobox
GJB6Band14 C3|14 30.1 cM1.00infobox
GJB6Bgeeskin of arm1.00infobox
GJB6Bgeegums1.00infobox
GJB6Bgeegingival epithelium1.00infobox
GJB6Bgeehuman penis1.00infobox
GJB6Bgeevulva1.00infobox
GJB6Bgeemucosa of pharynx1.00infobox
GJB6Bgeeoral cavity1.00infobox
GJB6Bgeeskin of thigh1.00infobox
GJB6Bgeebody of tongue1.00infobox
GJB6Bgeeskin of hip1.00infobox
GJB6Bgeeutricle1.00infobox
GJB6Bgeestria vascularis1.00infobox
GJB6Bgeetransitional epithelium of urinary bladder1.00infobox
GJB6Bgeedeep cerebellar nuclei1.00infobox
GJB6Bgeevestibular membrane of cochlear duct1.00infobox
GJB6Bgeemammillary body1.00infobox
GJB6Bgeecerebellar cortex1.00infobox
GJB6Bgeevestibular sensory epithelium1.00infobox
GJB6Bgeelumbar subsegment of spinal cord1.00infobox
GJB6Bgeemedial vestibular nucleus1.00infobox
GJB6BioGPSn/a1.00infobox
GJB6Chr.Chromosome 13 (human)1.00infobox
GJB6Chr.Chromosome 14 (mouse)1.00infobox
GJB6DatabasesNCBI: entry; OMA: entry1.00infobox
GJB6End20,232,365 bp1.00infobox
GJB6End57,371,068 bp1.00infobox
GJB6EnsemblENSG000001217421.00infobox

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