AutismKB 2.0

Annotation Detail for CD2AP


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Basic Information Top
Gene Symbol:CD2AP ( CMS,DKFZp586H0519 )
Gene Full Name: CD2-associated protein
Band: 6p12.3
Quick LinksEntrez ID:23607; OMIM: 604241; Uniprot ID:CD2AP_HUMAN; ENSEMBL ID: ENSG00000198087; HGNC ID: 14258
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
88Phosphotyrosine.
224Phosphoserine.
352SH3-binding (Potential).
397SH3-binding (Potential).
422SH3-binding (Potential).
458Phosphoserine.
510Phosphoserine.
Location(AA) Modifications Resource
88Phosphotyrosine.Swiss-Prot 53.0
88PhosphotyrosinePhospho.ELM 6.0
510Phosphoserine.Swiss-Prot 53.0
510PhosphoserinePhospho.ELM 6.0
548PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
189Phosphoserine(CDC2)HMM predict
189Phosphoserine(CDK)HMM predict
193O-linkedHMM predict
196N-linkedHMM predict
198O-linkedHMM predict
202O-linkedHMM predict
202O-linkedHMM predict
204Phosphoserine(IKK)HMM predict
206Phosphothreonine(PKC)HMM predict
232PhosphoserineHMM predict
234Phosphoserine(CK2)HMM predict
236Phosphothreonine(PKC)HMM predict
256Phosphoserine(IKK)HMM predict
373Phosphoserine(CK2)HMM predict
373Phosphoserine(CK1)HMM predict
393Phosphothreonine(PKA)HMM predict
393Phosphothreonine(MAPK)HMM predict
393O-linkedHMM predict
469Phosphoserine(PKG)HMM predict
514Phosphoserine(ATM)HMM predict
514Phosphoserine(CDK)HMM predict
514Phosphoserine(CDC2)HMM predict
542Phosphoserine(CDC2)HMM predict
542Phosphoserine(CDK)HMM predict
554Phosphoserine(CDC2)HMM predict
556Phosphoserine(IKK)HMM predict
556O-linkedHMM predict
559N-linkedHMM predict
560O-linkedHMM predict
560Phosphothreonine(PKC)HMM predict
565Phosphothreonine(MAPK)HMM predict
635AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012120
  • Location:chr6 47553898-47702605
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47553467 47553864 397 233
ER E2-MCF7GSE14664 47549072 47549112 40 4807
ER Fulvestrant-MCF7GSE14664 47549075 47549109 34 4807
H3K4me3 colorectalcancer 47552623 47552956 333 1109
H3ac HepG2E 47552450 47552990 540 1179
Oct1 H2O2-HelaGSE14283 47551896 47551927 31 1987
Oct1 HelaGSE14283 47549076 47549110 34 4806
Oct1 HelaGSE14283 47551897 47551937 40 1982
PHF8 293TGSE20725 47553005 47554422 1417 185
PHF8 HeLaGSE20725 47552813 47554354 1541 315
PHF8 Hs68plusFBSGSE20725 47552865 47554700 1835 116
RNAII Tamoxifen-MCF7GSE14664 47549074 47549109 35 4807
TFAP2C MCF7GSE21234 47535662 47536366 704 17885
hScc1 BcellGSE12603 47553055 47553933 878 405
hScc1 CdLSGSE12603 47553538 47553933 395 163
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47707001 47707254 253 4522
CTCF CD4SISSRdata 47707001 47707254 253 4522
Oct1 HelaGSE14283 47711216 47711309 93 8657
TFAP2C MCF7GSE21234 47707468 47707935 467 5096
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 47554730 47555363 633 0
H3ac HepG2E 47554248 47555807 1559 0
H3ac HepG2E 47558834 47559460 626 0
TAF HelaGSE8489 47554280 47554841 561 0
TAF k562GSE8489 47554317 47557006 2689 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-126 hsa-mir-126 9 18776121
hsa-miR-126* hsa-mir-126 9 18776121
hsa-miR-145 hsa-mir-145 5 18776121
hsa-miR-145* hsa-mir-145 5 18776121
hsa-miR-30a hsa-mir-30a 6 18776121
hsa-miR-30a* hsa-mir-30a 6 18776121
No data
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


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