• Gene id: 10804

Gene Summary

• Gene Symbol: GJB6   Gene   UCSC   Ensembl
• Aliases: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
• Gene name: gap junction protein beta 6
• Alternate names: gap junction beta-6 protein, connexin 30, ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6, 30kDa,
• Gene location: 13q12.11 (20232394: 20221961)     Exons: 6     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 610117

Protein Summary

• Protein general information: O95452  
  • Name: Gap junction beta 6 protein (Connexin 30) (Cx30)
  • Length: 261  
  • Mass: 30387
• Sequence:

  MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIR
  LWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAF
  MYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRA
  QTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS

• Structural information:
  • Interpro: IPR000500  IPR019570  IPR017990  IPR013092  IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000348521
• Other Databases: GeneCards:  GJB6  Malacards:  GJB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990349	gap junction-mediated intercellular transport	IDA	biological process
GO:1903763	gap junction channel activity involved in cell communication by electrical coupling	IDA	molecular function
GO:0005243	gap junction channel activity	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0055085	transmembrane transport	IDA	biological process
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0005884	actin filament	IMP	cellular component
GO:0005921	gap junction	NAS	cellular component
GO:0005921	gap junction	IMP	cellular component
GO:0016264	gap junction assembly	NAS	biological process
GO:0016264	gap junction assembly	IMP	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0042471	ear morphogenesis	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0010644	cell communication by electrical coupling	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Ectodermal dysplasia, Clouston type	KEGG:H00648
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Ectodermal dysplasia	KEGG:H00648
Ectodermal dysplasia	PMID:11017065
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R