AutismKB 2.0

Annotation Detail for PIK3C2A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PIK3C2A ( CPK,DKFZp686L193,MGC142218,PI3-K-C2(ALPHA),PI3-K-C2A )
Gene Full Name: phosphoinositide-3-kinase, class 2, alpha polypeptide
Band: 11p15.1
Quick LinksEntrez ID:5286; OMIM: 603601; Uniprot ID:P3C2A_HUMAN; ENSEMBL ID: ENSG00000011405; HGNC ID: 8971
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
60Phosphoserine.
108Phosphoserine.
254Phosphoserine.
259Phosphoserine.
338Phosphoserine.
1553Phosphoserine.
1619Nuclear localization signal.
Location(AA) Modifications Resource
259Phosphoserine.Swiss-Prot 53.0
259Phosphoserine (CDK1)Phospho.ELM 6.0
Location(AA) Modification Resource
73Phosphotyrosine(INSR)HMM predict
73SulfotyrosineHMM predict
83Phosphoserine(CK1)HMM predict
114Phosphothreonine(PKA)HMM predict
124O-linkedHMM predict
124Phosphoserine(CDC2)HMM predict
150O-linkedHMM predict
152Phosphotyrosine(INSR)HMM predict
156O-linkedHMM predict
336Phosphoserine(IKK)HMM predict
354Phosphoserine(ATM)HMM predict
359N-linkedHMM predict
363O-linkedHMM predict
631Phosphothreonine(PKC)HMM predict
675Phosphoserine(CK1)HMM predict
769N-linkedHMM predict
774Phosphoserine(CK1)HMM predict
775Phosphoserine(CDC2)HMM predict
775Phosphoserine(ATM)HMM predict
775Phosphoserine(IKK)HMM predict
819PhosphoserineHMM predict
819Phosphoserine(IKK)HMM predict
819O-linkedHMM predict
967Phosphoserine(CK2)HMM predict
967Phosphoserine(CK2)HMM predict
989N-linkedHMM predict
1067Phosphoserine(CAMK2)HMM predict
1192Phosphothreonine(PKC)HMM predict
1219N-linkedHMM predict
1225Phosphotyrosine(SRC)HMM predict
1225Phosphotyrosine(Syk)HMM predict
1225Phosphotyrosine(EGFR)HMM predict
1225Phosphotyrosine(INSR)HMM predict
1281Phosphoserine(CDK)HMM predict
1306Phosphothreonine(PKC)HMM predict
1363O-linkedHMM predict
1363Phosphothreonine(CK2)HMM predict
1417Phosphoserine(PKC)HMM predict
1436Phosphotyrosine(Syk)HMM predict
1442Phosphotyrosine(Jak)HMM predict
1551Phosphoserine(IKK)HMM predict
1553Phosphoserine(CDC2)HMM predict
1553Phosphoserine(ATM)HMM predict
1553O-linkedHMM predict
1553Phosphoserine(CDK)HMM predict
1571N-linkedHMM predict
1595Phosphotyrosine(Jak)HMM predict
1595Phosphotyrosine(Syk)HMM predict
1612Phosphothreonine(PKA)HMM predict
1620N-linkedHMM predict
1624N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002645
  • Location:chr11 17067862-17147863
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 17164990 17165460 470 17362
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 17125648 17125719 71 0
ER E2-MCF7GSE14664 17131653 17131691 38 0
ER Fulvestrant-MCF7GSE14664 17077589 17077624 35 0
ER Fulvestrant-MCF7GSE14664 17093005 17093070 65 0
ER Fulvestrant-MCF7GSE14664 17120638 17120674 36 0
FOXA1 DLD1GSE12801 17108240 17108590 350 0
GATA3 MCF7GSE15244 17147309 17148263 954 0
Oct1 H2O2-HelaGSE14283 17077589 17077622 33 0
Oct1 HelaGSE14283 17074889 17074961 72 0
Oct1 HelaGSE14283 17075202 17075238 36 0
Oct1 HelaGSE14283 17077587 17077622 35 0
Oct1 HelaGSE14283 17121289 17121377 88 0
Oct1 HelaGSE14283 17121465 17121509 44 0
Oct1 HelaGSE14283 17125641 17125713 72 0
Oct1 HelaGSE14283 17133238 17133280 42 0
Oct4 hESGSE17917 17078289 17078435 146 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018