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  Domain Name: Centaurin_gamma
Centaurin gamma (CENTG) GTPase. The centaurins (alpha, beta, gamma, and delta) are large, multi-domain proteins that all contain an ArfGAP domain and ankyrin repeats, and in some cases, numerous additional domains. Centaurin gamma contains an additional GTPase domain near its N-terminus. The specific function of this GTPase domain has not been well characterized, but centaurin gamma 2 (CENTG2) may play a role in the development of autism. Centaurin gamma 1 is also called PIKE (phosphatidyl inositol (PI) 3-kinase enhancer) and centaurin gamma 2 is also known as AGAP (ArfGAP protein with a GTPase-like domain, ankyrin repeats and a Pleckstrin homology domain) or GGAP. Three isoforms of PIKE have been identified. PIKE-S (short) and PIKE-L (long) are brain-specific isoforms, with PIKE-S restricted to the nucleus and PIKE-L found in multiple cellular compartments. A third isoform, PIKE-A was identified in human glioblastoma brain cancers and has been found in various tissues. GGAP has been shown to have high GTPase activity due to a direct intramolecular interaction between the N-terminal GTPase domain and the C-terminal ArfGAP domain. In human tissue, AGAP mRNA was detected in skeletal muscle, kidney, placenta, brain, heart, colon, and lung. Reduced expression levels were also observed in the spleen, liver, and small intestine.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 92
Total Disease Mutations Found: 56
This domain occurred 54 times on human genes (94 proteins).



  AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
  BLADDER CANCER, SOMATIC
  BLADDER CANCER, SOMATIC, INCLUDED
  BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
  BREAST ADENOCARCINOMA, SOMATIC
  CARDIOFACIOCUTANEOUS SYNDROME 2
  CARDIOFACIOCUTANEOUS SYNDROME 2 (CFC2)
  COSTELLO SYNDROME
  COSTELLO SYNDROME, INCLUDED;;
  COSTELLO SYNDROME, SEVERE
  EPIDERMAL NEVUS WITH UROTHELIAL CAN
  EPIDERMAL NEVUS, SOMATIC
  EPIDERMAL NEVUS, SOMATIC, INCLUDED
  EPIDERMAL NEVUS, SOMATIC, INCLUDED;;
  FACIOCUTANEOSKELETAL SYNDROME (FCSS)
  GASTRIC CANCER, SOMATIC
  GASTRIC CANCER, SOMATIC, INCLUDED;;
  JUVENILE MYELOMONOCYTIC LEUKEMIA, INCLUDED;;
  LUNG CANCER, SOMATIC
  LUNG CANCER, SQUAMOUS CELL, SOMATIC
  MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
  MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;
  NEVUS SEBACEOU
  NEVUS SEBACEOUS, SOMATIC
  NEVUS SEBACEOUS, SOMATIC, INCLUDED
  NEVUS SEBACEOUS, SOMATIC, INCLUDED;;
  NOONAN SYNDROME 3
  NOONAN SYNDROME 6
  NOONAN SYNDROME 6, INCLU
  NOONAN SYNDROME 8
  OVARIAN CANCER, SOMATIC
  PANCREATIC CARCINOMA, SOMATIC
  PILOCYTIC ASTROCYTOMA, SOMATIC
  RECTAL CANCER, SOMATIC
  SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;
  SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
  THYROID CARCINOMA, FOLLICULAR, SOMATIC
  WARBURG MICRO SYNDROME 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
GTP/Mg2+ binding site
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box












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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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