• Gene id: 127534

Gene Summary

• Gene Symbol: GJB4   Gene   UCSC   Ensembl
• Aliases: CX30.3, EKV, EKVP2
• Gene name: gap junction protein beta 4
• Alternate names: gap junction beta-4 protein, connexin 30.3, gap junction protein, beta 4, 30.3kDa,
• Gene location: 1p34.3 (34759739: 34762326)     Exons: 3     NC_000001.11
• Gene summary(Entrez): This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq,

Protein Summary

• Protein general information: Q9NTQ9  
  • Name: Gap junction beta 4 protein (Connexin 30.3) (Cx30.3)
  • Length: 266  
  • Mass: 30419
• Sequence:

  MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVR
  LWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFH
  RLYKDYDMPRVVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPR
  CRECLPDTCPPYVLSQGGHPEDGNSVLMKAGSAPVDAGGYP

• Structural information:
  • Interpro: IPR000500  IPR002270  IPR019570  IPR017990  IPR013092   IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000345868
• Other Databases: GeneCards:  GJB4  Malacards:  GJB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0005922	connexin complex	IBA	cellular component
GO:0005243	gap junction channel activity	ISS	molecular function
GO:0007267	cell-cell signaling	ISS	biological process
GO:0005922	connexin complex	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:1990349	gap junction-mediated intercellular transport	ISS	biological process
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:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0005243	gap junction channel activity	IEA	molecular function
GO:0007267	cell-cell signaling	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005922	connexin complex	IEA	cellular component
GO:0007608	sensory perception of smell	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:1990349	gap junction-mediated intercellular transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Erythrokeratodermia variabilis	KEGG:H00710
Erythrokeratodermia variabilis	KEGG:H00710
Erythrokeratodermia variabilis	PMID:12648223
Erythrokeratodermia variabilis	PMID:23037955
Erythrokeratodermia variabilis	PMID:11017804
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq