PIK3C2A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPIK3C2A, CPK, PI3-K-C2(ALPHA), PI3-K-C2A, PI3K-C2-alpha, PI3K-C2alpha, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha, OCSKD
External IDsOMIM: 603601 MGI: 1203729 HomoloGene: 20581 GeneCards: PIK3C2A
Orthologs
SpeciesHumanMouse
Entrez

5286

18704

Ensembl

ENSG00000011405

ENSMUSG00000030660

UniProt

O00443

Q61194

RefSeq (mRNA)

NM_002645
NM_001321378
NM_001321380
NM_001386870

NM_011083

RefSeq (protein)

NP_001308307
NP_001308309
NP_002636

NP_035213

Location (UCSC)Chr 11: 17.08 – 17.21 MbChr 7: 115.94 – 116.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing alpha polypeptide is an enzyme that in humans is encoded by the PIK3C2A gene.[5][6]

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking.

This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of Class II PI 3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmannin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling.[6]

Clinical significance

Three families have been reported with homozygous loss of function mutations in this gene.[7] The clinical features of this syndrome include short stature, coarse facial features, cataracts with secondary glaucoma, multiple skeletal abnormalities and neurological manifestations. Abnormalities of cilial function were also noted.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000011405 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030660 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Domin J, Pages F, Volinia S, Rittenhouse SE, Zvelebil MJ, Stein RC, Waterfield MD (Nov 1997). "Cloning of a human phosphoinositide 3-kinase with a C2 domain that displays reduced sensitivity to the inhibitor wortmannin". Biochem J. 326 (1): 139–47. doi:10.1042/bj3260139. PMC 1218647. PMID 9337861.
  6. 1 2 "Entrez Gene: PIK3C2A phosphoinositide-3-kinase, class 2, alpha polypeptide".
  7. Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, et al. (April 2019). "Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction". PLOS Genetics. 15 (4): e1008088. doi:10.1371/journal.pgen.1008088. PMC 6508738. PMID 31034465.

Further reading

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