• Gene id: 54810

Gene Summary

• Gene Symbol: GIPC2   Gene   UCSC   Ensembl
• Aliases: SEMCAP-2, SEMCAP2
• Gene name: GIPC PDZ domain containing family member 2
• Alternate names: PDZ domain-containing protein GIPC2, PDZ domain protein GIPC2, epididymis secretory sperm binding protein, semaF cytoplasmic domain associated protein 2, semaphorin cytoplasmic domain associated protein 2,
• Gene location: 1p31.1 (78044969: 78138443)     Exons: 7     NC_000001.11
• OMIM: 615020

Protein Summary

• Protein general information: Q8TF65  
  • Name: PDZ domain containing protein GIPC2
  • Length: 315  
  • Mass: 34354
  • Tissue specificity: Expressed at highest levels in ascending colon and at moderate levels in adult kidney. Expressed at low levels in adult pancreas and at very low levels in adult liver. Expression is down-regulated in several primary tumors, such as kid
• Sequence:

  MPLKLRGKKKAKSKETAGLVEGEPTGAGGGSLSASRAPARRLVFHAQLAHGSATGRVEGFSSIQELYAQIAGAFE
  ISPSEILYCTLNTPKIDMERLLGGQLGLEDFIFAHVKGIEKEVNVYKSEDSLGLTITDNGVGYAFIKRIKDGGVI
  DSVKTICVGDHIESINGENIVGWRHYDVAKKLKELKKEELFTMKLIEPKKAFEIELRSKAGKSSGEKIGCGRATL
  RLRSKGPATVEEMPSETKAKAIEKIDDVLELYMGIRDIDLATTMFEAGKDKVNPDEFAVALDETLGDFAFPDEFV
  FDVWGVIGDAKRRGL

• Structural information:
  • Protein Domains: (117..19-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR017379  IPR001478  IPR036034  
  • Prosite: PS50106
  • PDB: 3GGE
  • PDBsum: 3GGE
  • STRING: ENSP00000359795
• Other Databases: GeneCards:  GIPC2  Malacards:  GIPC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005737	cytoplasm	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

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