• Gene id: 2700

Gene Summary

• Gene Symbol: GJA3   Gene   UCSC   Ensembl
• Aliases: CTRCT14, CX46, CZP3
• Gene name: gap junction protein alpha 3
• Alternate names: gap junction alpha-3 protein, connexin-46, gap junction alpha 3, gap junction protein, alpha 3, 46kDa,
• Gene location: 13q12.11 (20161326: 20138251)     Exons: 3     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
• OMIM: 609172

Protein Summary

• Protein general information: Q9Y6H8  
  • Name: Gap junction alpha 3 protein (Connexin 46) (Cx46)
  • Length: 435  
  • Mass: 47410
• Sequence:

  MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHI
  RFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYV
  FNIIFKTLFEVGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHL
  GWKKLKQGVTSRLGPDASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLL
  ALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLL
  DGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI

• Structural information:
  • Interpro: IPR000500  IPR002262  IPR034634  IPR019570  IPR017990   IPR013092  IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000241125
• Other Databases: GeneCards:  GJA3  Malacards:  GJA3

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:0055077	gap junction hemi-channel activity	IDA	molecular function
GO:1990349	gap junction-mediated intercellular transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005922	connexin complex	IDA	cellular component
GO:0005243	gap junction channel activity	IEA	molecular function
GO:0007154	cell communication	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
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:0055077	gap junction hemi-channel activity	IDA	molecular function
GO:1990349	gap junction-mediated intercellular transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005922	connexin complex	IDA	cellular component
GO:0005243	gap junction channel activity	IEA	molecular function
GO:0007154	cell communication	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	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
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881