G2Cdb::Gene report

Gene id
G00001624
Gene symbol
PIK3CA (HGNC)
Species
Homo sapiens
Description
phosphoinositide-3-kinase, catalytic, alpha polypeptide
Orthologue
G00000375 (Mus musculus)

Databases (7)

Gene
ENSG00000121879 (Ensembl human gene)
5290 (Entrez Gene)
379 (G2Cdb plasticity & disease)
PIK3CA (GeneCards)
Literature
171834 (OMIM)
Marker Symbol
HGNC:8975 (HGNC)
Protein Sequence
P42336 (UniProt)

Synonyms (1)

  • PI3K

Diseases (45)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000321: Cancer N Y (15016963) Unknown (?) Y
D00000042: Breast cancer N Y (15254419) Unknown (?) Y
D00000067: Oligodendroglioma (anaplastic) Y Y (15289301) Unknown (?) Y
D00000068: Astrocytoma (anaplastic) Y Y (15289301) Unknown (?) Y
D00000073: Glioblastoma multiforme Y Y (15289301) Unknown (?) Y
D00000074: Medulloblastoma N Y (15289301) Unknown (?) Y
D00000071: Ependymoma Y Y (15289301) Unknown (?) N
D00000069: Astrocytoma (low grade) Y Y (15289301) Unknown (?) N
D00000021: Colon cancer N Y (15467468) Unknown (?) Y
D00000042: Breast cancer N Y (15467468) Unknown (?) Y
D00000070: Brain tumours (various) Y Y (15467468) Unknown (?) Y
D00000028: Lung cancer N Y (15467468) Unknown (?) Y
D00000049: Ovarian cancer N Y (15520168) Unknown (?) Y
D00000042: Breast cancer N Y (15520168) Unknown (?) Y
D00000105: Breast carcinoma N Y (15608678) Unknown (?) Y
D00000027: Hepatocellular carcinoma N Y (15608678) Unknown (?) Y
D00000050: Ovarian carcinoma N Y (15712344) Microinsertion (MI) ?
D00000017: Gastric adenocarcinoma N Y (15784156) Unknown (?) Y
D00000105: Breast carcinoma N Y (15805248) Unknown (?) Y
D00000047: Epithelial ovarian carcinoma N Y (15837735) Microinsertion (MI) Y
D00000107: Invasive breast carcinoma N Y (15837735) Microinsertion (MI) Y
D00000072: Glioblastoma Y Y (15924252) No mutation found (N) N
D00000073: Glioblastoma multiforme Y Y (15924253) Unknown (?) Y
D00000081: Thyroid cancer N Y (15928251) Single nucleotide polymorphism (SNP) ?
D00000019: Gastric carcinoma N Y (15994075) Unknown (?) Y
D00000023: Colorectal carcinoma N Y (15994075) Unknown (?) Y
D00000014: Nasopharyngeal carcinoma N Y (16114017) Unknown (?) ?
D00000072: Glioblastoma Y Y (16150119) Unknown (?) Y
D00000042: Breast cancer N Y (16168105) Unknown (?) Y
D00000049: Ovarian cancer N Y (16203798) Microinsertion (MI) Y
D00000079: Anaplastic thyroid cancer N Y (16288007) Unknown (?) Y
D00000045: Endometrial carcinoma N Y (16322209) Microinsertion (MI) Y
D00000026: Hepatoblastular carcinoma N Y (16331247) No mutation found (N) N
D00000105: Breast carcinoma N Y (16353168) Unknown (?) Y
D00000015: Oesophageal squamous cell carcinoma N Y (16380997) Unknown (?) Y
D00000002: Adenocarcinoma N Y (16380997) Unknown (?) Y
D00000243: Barrett's oesophagus N Y (16380997) Unknown (?) N
D00000115: Meningioma N Y (16463202) Unknown (?) ?
D00000036: Head and neck squamous cell carcinoma N Y (16533766) Microinsertion (MI) Y
D00000033: Cutaneous melanoma N Y (16567976) Microinsertion (MI) Y
D00000093: Acute myeloid leukaemia N Y (16573740) No mutation found (N) N
D00000042: Breast cancer N Y (16582596) Single nucleotide polymorphism (SNP) Y
D00000075: Oligodendroglial tumour Y Y (16599949) Unknown (?) ?
D00000055: Ovarian serous carcinoma N Y (16721043) Unknown (?) ?
D00000056: Serous borderline tumour N Y (16721043) Unknown (?) ?
D00000044: Endometrial cancer N Y (16764926) Microinsertion (MI) Y
D00000044: Endometrial cancer N Y (16764926) Polymorphism (P) Y
D00000011: Osteosarcoma N Y (16764926) Microinsertion (MI) Y
D00000011: Osteosarcoma N Y (16764926) Polymorphism (P) Y
D00000093: Acute myeloid leukaemia N Y (16764926) Microinsertion (MI) N
D00000093: Acute myeloid leukaemia N Y (16764926) Polymorphism (P) N
D00000031: Intraductal papillary mucinous neoplasm N Y (16778113) Microinsertion (MI) Y
D00000030: Intraductal papillary mucinous carcinoma N Y (16778113) Microinsertion (MI) Y
D00000066: Neuroblastoma Y Y (16822308) Microinsertion (MI) ?
D00000061: Superficial papillary bladder tumour N Y (16885334) Unknown (?) Y
D00000028: Lung cancer N Y (16930767) Microinsertion (MI) Y
D00000045: Endometrial carcinoma N Y (16949921) Unknown (?) Y
D00000073: Glioblastoma multiforme Y Y (17050665) Unknown (?) Y
D00000016: Oral squamous cell carcinoma N Y (17052259) Microinsertion (MI) Y
D00000046: Uterine endometrioid carcinoma N Y (17062663) Unknown (?) Y
D00000274: Complex atypical hyperplasia N Y (17062663) Unknown (?) N
D00000105: Breast carcinoma N Y (17202311) Microinsertion (MI) Y
D00000014: Nasopharyngeal carcinoma N Y (17222361) Microinsertion (MI) Y
D00000072: Glioblastoma Y Y (17235514) Microinsertion (MI) Y
D00000081: Thyroid cancer N Y (17317825) Duplication (Du) Y

References

Literature (308)

Pubmed - human_disease

Pubmed - other

Gene lists (4)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000034 G2C Homo sapiens Pocklington H3 Human orthologues of cluster 3 (mouse) from Pocklington et al (2006) 30
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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