Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10804
Gene name	Gap junction protein beta 6
Gene symbol	GJB6
Synonyms (NCBI Gene)	CX30DFNA3DFNA3BDFNB1BECTD2ED2EDHHEDHED2
Chromosome	13
Chromosome location	13q12.11
Summary	Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extrac

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937872	G>A	Pathogenic	Missense variant, coding sequence variant
rs35002004	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs104894414	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894415	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894416	A>T	Pathogenic	Missense variant, coding sequence variant
rs150075979	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs371123633	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs397517206	CG>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs398124236	->T	Pathogenic	Coding sequence variant, frameshift variant
rs398124237	->T	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs756597598	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770612890	C>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs772862268	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs780320724	G>A	Pathogenic	Coding sequence variant, missense variant
rs1566538321	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017331	hsa-miR-335-5p	Microarray	18185580

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003163	Process	Sinoatrial node development	NAS	26786210
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	12767933
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005884	Component	Actin filament	IMP	19285977
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	IMP	19285977
GO:0005921	Component	Gap junction	NAS	12767933
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10610709
GO:0008017	Function	Microtubule binding	IDA	19285977
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IMP	19285977
GO:0016264	Process	Gap junction assembly	NAS	12767933
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042471	Process	Ear morphogenesis	IEA
GO:0048487	Function	Beta-tubulin binding	IDA	19285977
GO:0048839	Process	Inner ear development	IEA
GO:0051015	Function	Actin filament binding	IDA	19285977
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055085	Process	Transmembrane transport	IDA	12767933
GO:0070161	Component	Anchoring junction	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IDA	12767933
GO:1990349	Process	Gap junction-mediated intercellular transport	IBA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	12767933

MIM	HGNC	e!Ensembl
604418	4288	ENSG00000121742

O95452

Protein name

Gap junction beta-6 protein (Connexin-30) (Cx30)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 215	Connexin	Family

Sequence

MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGC
KNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIED
IKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDC
FISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESK
QNEMNELISDSGQNAITGFPS

Sequence length

261

Interactions

View interactions

	Reactome
			Gap junction assembly

382

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 3B	Pathogenic	rs104894414, rs104894415, rs28937872	RCV000088666 RCV000645727 RCV000798432
Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic	rs104894415, rs28937872	RCV000645727 RCV000798432
Autosomal recessive nonsyndromic hearing loss 1B	Pathogenic	rs104894415, rs28937872	RCV000645727 RCV000798432
GJB6-related disorder	Pathogenic	rs104894415	RCV003335016
Hidrotic ectodermal dysplasia syndrome	Pathogenic; Likely pathogenic	rs104894415, rs28937872, rs104894416, rs1869351345	RCV000005882 RCV000005883 RCV000005886 RCV003985842
Nonsyndromic Deafness	Likely pathogenic	rs1566538321	RCV001844222
X-linked mixed hearing loss with perilymphatic gusher	Pathogenic	rs28937872	RCV002504751

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7333214	RCV005893217
Cervical cancer	Likely benign	rs150039369	RCV005916118
Hearing impairment	Uncertain significance	rs946061258	RCV001375188
Ichthyosis and erythrokeratoderma	Conflicting classifications of pathogenicity	rs770612890	RCV006261968
Monogenic hearing loss	Conflicting classifications of pathogenicity	rs770612890	RCV006261967

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia universalis	Associate	15140211
Carcinogenesis	Associate	17695503
Colorectal Neoplasms	Associate	21406965, 32170581
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15140211
Deafness	Associate	11807148, 15365987, 16773579, 19265722, 21465647, 22389666, 22785241, 23430402, 26075227, 32067424, 33530996, 35062939
Deafness Autosomal Dominant 1	Associate	16648378
Dupuytren Contracture	Associate	24359029
Ectodermal Dysplasia	Associate	11874494, 14708603, 15140211, 15245427, 25575739, 30043857, 32843087
Epidermal Cyst	Associate	14681040
Head and Neck Neoplasms	Inhibit	17695503
Head and Neck Neoplasms	Associate	19528455
Hearing Loss	Associate	14681040, 16380907, 17615163, 18585793, 20096356, 20442751, 21731760, 21738759, 22106692, 22281206, 22617145, 24785695, 25528277, 26896187, 29926981 View all (8 more)
Hearing Loss Sensorineural	Associate	20146813, 21254920, 22785241
Ichthyosis	Associate	27409001
Keratitis	Associate	27409001
Keratitis Ichthyosis Deafness Syndrome	Associate	15140211, 27409001
Keratoderma Palmoplantar	Associate	20096356
Lymphedema	Associate	16941638
Microsatellite Instability	Associate	32170581
Nails Malformed	Associate	36421794
Neoplasms	Inhibit	17695503
Neoplasms	Associate	32170581, 32311223
Neoplastic Syndromes Hereditary	Associate	20668687, 31846914
Neurilemmoma	Associate	26121316
Nonsyndromic Deafness	Associate	11807148, 16941638, 21392827, 21465647, 21731760, 22617145, 26075227, 28273078, 33096615
Nonsyndromic sensorineural hearing loss	Associate	21287563, 26011646, 30837189, 31162818, 31846914
Optic Atrophy	Associate	16648378
Optic Atrophy Autosomal Dominant	Associate	16648378
Palmoplantar Keratoderma with Deafness	Associate	29267478
Sepsis	Associate	27409001
Stomach Diseases	Associate	32170581
Vitiligo	Associate	29054607

GJB6 (gap junction protein beta 6)