AutismKB 2.0

Annotation Detail for SH2D2A


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Basic Information Top
Gene Symbol:SH2D2A ( F2771,SCAP,TSAD,VRAP )
Gene Full Name: SH2 domain containing 2A
Band: 1q23.1
Quick LinksEntrez ID:9047; OMIM: 604514; Uniprot ID:SH22A_HUMAN; ENSEMBL ID: ENSG00000027869; HGNC ID: 10821
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
39Phosphotyrosine.
216Phosphotyrosine.
217Phosphoserine.
250SH3-binding (Potential).
278SH3-binding (Potential).
296Phosphoserine.
305Phosphotyrosine.
Location(AA) Modifications Resource
39Phosphotyrosine.Swiss-Prot 53.0
39PhosphotyrosinePhospho.ELM 6.0
216Phosphotyrosine.Swiss-Prot 53.0
216PhosphotyrosinePhospho.ELM 6.0
280PhosphotyrosinePhospho.ELM 6.0
290PhosphotyrosinePhospho.ELM 6.0
305Phosphotyrosine.Swiss-Prot 53.0
305PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
43Phosphoserine(CDC2)HMM predict
51Phosphoserine(IKK)HMM predict
138S-palmitoylHMM predict
176Phosphoserine(MAPK)HMM predict
190Phosphothreonine(MAPK)HMM predict
209Phosphoserine(ATM)HMM predict
216Phosphotyrosine(SRC)HMM predict
260Phosphotyrosine(Abl)HMM predict
280Phosphotyrosine(Syk)HMM predict
280Phosphotyrosine(SRC)HMM predict
280Phosphotyrosine(INSR)HMM predict
280SulfotyrosineHMM predict
305Phosphotyrosine(SRC)HMM predict
305Phosphotyrosine(Syk)HMM predict
305Phosphotyrosine(EGFR)HMM predict
343Phosphoserine(IKK)HMM predict
346Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003975
  • Location:chr1 155042659-155053225
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 155041212 155041499 287 1304
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 155050147 155050436 289 0
CTCF CD4SISSRdata 155050147 155050436 289 0
CTCF G2GSE9613 155047248 155047544 296 0
CTCF G2GSE9613 155050145 155050646 501 0
Myc K562GSE19551 155049954 155050993 1039 0
hScc1 BcellGSE12603 155047432 155047790 358 0
hScc1 BcellGSE12603 155050145 155050766 621 0
p130 SenescentGSE19898 155051693 155052117 424 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