• Gene id: 126326

Gene Summary

• Gene Symbol: GIPC3   Gene   UCSC   Ensembl
• Aliases: C19orf64, DFNB15, DFNB72, DFNB95
• Gene name: GIPC PDZ domain containing family member 3
• Alternate names: PDZ domain-containing protein GIPC3,
• Gene location: 19p13.3 (3585477: 3593540)     Exons: 6     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are ass
• OMIM: 608719

Protein Summary

• Protein general information: Q8TF64  
  • Name: PDZ domain containing protein GIPC3
  • Length: 312  
  • Mass: 33982
  • Tissue specificity: Widely expressed in adult and fetal tissues. Highest levels are found in jejunum, lymph node, parietal lobe, fetal spleen and fetal thymus. Expressed in cervical, melanoma, chronic myelogenous and gastric cancer cell lines. {ECO
• Sequence:

  MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTE
  ILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEA
  VCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLR
  SGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEV
  WAAIGEAREACG

• Structural information:
  • Protein Domains: (112..19-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR017379  IPR001478  IPR036034  
  • Prosite: PS50106
  • STRING: ENSP00000319254
• Other Databases: GeneCards:  GIPC3  Malacards:  GIPC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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