• Gene id: 81025

Gene Summary

• Gene Symbol: GJA9   Gene   UCSC   Ensembl
• Aliases: CX58, CX59, GJA10
• Gene name: gap junction protein alpha 9
• Alternate names: gap junction alpha-9 protein, connexin 59, connexin-58, gap junction alpha 10, gap junction protein, alpha 9, 59kDa,
• Gene location: 1p34.3 (38881586: 38874068)     Exons: 2     NC_000001.11
• Gene summary(Entrez): Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin s

Protein Summary

• Protein general information: P57773  
  • Name: Gap junction alpha 9 protein (Connexin 58) (Cx58) (Connexin 59) (Cx59) (Gap junction alpha 10 protein)
  • Length: 515  
  • Mass: 58842
  • Tissue specificity: Highly abundant in skeletal muscle. Also detected in testis. {ECO
• Sequence:

  MGDWNLLGDTLEEVHIHSTMIGKIWLTILFIFRMLVLGVAAEDVWNDEQSGFICNTEQPGCRNVCYDQAFPISLI
  RYWVLQVIFVSSPSLVYMGHALYRLRVLEEERQRMKAQLRVELEEVEFEMPRDRRRLEQELCQLEKRKLNKAPLR
  GTLLCTYVIHIFTRSVVEVGFMIGQYLLYGFHLEPLFKCHGHPCPNIIDCFVSRPTEKTIFLLFMQSIATISLFL
  NILEIFHLGFKKIKRGLWGKYKLKKEHNEFHANKAKQNVAKYQSTSANSLKRLPSAPDYNLLVEKQTHTAVYPSL
  NSSSVFQPNPDNHSVNDEKCILDEQETVLSNEISTLSTSCSHFQHISSNNNKDTHKIFGKELNGNQLMEKRETEG
  KDSKRNYYSRGHRSIPGVAIDGENNMRQSPQTVFSLPANCDWKPRWLRATWGSSTEHENRGSPPKGNLKGQFRKG
  TVRTLPPSQGDSQSLDIPNTADSLGGLSFEPGLVRTCNNPVCPPNHVVSLTNNLIGRRVPTDLQI

• Structural information:
  • Interpro: IPR000500  IPR019570  IPR017990  IPR013092  IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000354020
• Other Databases: GeneCards:  GJA9  Malacards:  GJA9

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:0016020	membrane	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:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray