• Gene id: 2707

Gene Summary

• Gene Symbol: GJB3   Gene   UCSC   Ensembl
• Aliases: CX31, DFNA2, DFNA2B, EKV, EKVP1
• Gene name: gap junction protein beta 3
• Alternate names: gap junction beta-3 protein, connexin 31, gap junction protein, beta 3, 31kDa,
• Gene location: 1p34.3 (34781213: 34786363)     Exons: 3     NC_000001.11
• Gene summary(Entrez): This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Muta
• OMIM: 603324

Protein Summary

• Protein general information: O75712  
  • Name: Gap junction beta 3 protein (Connexin 31) (Cx31)
  • Length: 270  
  • Mass: 30818
• Sequence:

  MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIR
  LWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLH
  TLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRG
  GCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI

• Structural information:
  • Interpro: IPR000500  IPR002269  IPR019570  IPR017990  IPR013092   IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000362464
• Other Databases: GeneCards:  GJB3  Malacards:  GJB3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0001890	placenta development	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0005921	gap junction	NAS	cellular component
GO:0005243	gap junction channel activity	NAS	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Erythrokeratodermia variabilis	KEGG:H00710
Erythrokeratodermia variabilis	PMID:10798362
Erythrokeratodermia variabilis	PMID:9843209
Erythrokeratodermia variabilis	PMID:10594760
Erythrokeratodermia variabilis	PMID:22681493
Erythrokeratodermia variabilis	PMID:16297190
Erythrokeratodermia variabilis	PMID:15948974
Erythrokeratodermia variabilis	PMID:25556823
Erythrokeratodermia variabilis	PMID:21188847
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R