AutismKB 2.0

Annotation Detail for SH2D3C


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Basic Information Top
Gene Symbol:SH2D3C ( CHAT,FLJ39664,NSP3,PRO34088 )
Gene Full Name: SH2 domain containing 3C
Band: 9q34.11
Quick LinksEntrez ID:10044; OMIM: 604722; Uniprot ID:SH2D3_HUMAN; ENSEMBL ID: ENSG00000095370; HGNC ID: 16884
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
183Phosphotyrosine.
278Phosphotyrosine (By similarity).
283Phosphotyrosine (By similarity).
793Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
278Phosphotyrosine (By similarity).Swiss-Prot 53.0
283Phosphotyrosine (By similarity).Swiss-Prot 53.0
495PhosphotyrosinePhospho.ELM 6.0
793Phosphotyrosine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
31Phosphothreonine(PKC)HMM predict
74Phosphotyrosine(INSR)HMM predict
140N-linkedHMM predict
183Phosphotyrosine(EGFR)HMM predict
196Phosphoserine(CDK)HMM predict
255Phosphothreonine(PKC)HMM predict
283SulfotyrosineHMM predict
320N-linkedHMM predict
343Phosphoserine(IKK)HMM predict
343Phosphoserine(CDC2)HMM predict
343Phosphoserine(MAPK)HMM predict
346Phosphoserine(CDC2)HMM predict
346Phosphoserine(IKK)HMM predict
346Phosphoserine(MAPK)HMM predict
381O-linkedHMM predict
405Phosphoserine(IKK)HMM predict
411O-linkedHMM predict
413Phosphoserine(CDK)HMM predict
413Phosphoserine(CDC2)HMM predict
413Phosphoserine(IKK)HMM predict
415O-linkedHMM predict
415Phosphoserine(CK1)HMM predict
416Phosphoserine(MAPK)HMM predict
416O-linkedHMM predict
416Phosphoserine(IKK)HMM predict
416Phosphoserine(ATM)HMM predict
416Phosphoserine(CDC2)HMM predict
419Phosphotyrosine(SRC)HMM predict
421Phosphothreonine(PKC)HMM predict
433O-linkedHMM predict
433O-linkedHMM predict
435O-linkedHMM predict
435O-linkedHMM predict
440Phosphoserine(MAPK)HMM predict
440Phosphoserine(CDC2)HMM predict
440PhosphoserineHMM predict
446Phosphoserine(PKG)HMM predict
447Phosphoserine(CAMK2)HMM predict
447Phosphoserine(CK1)HMM predict
470Phosphoserine(ATM)HMM predict
479Phosphoserine(CDC2)HMM predict
481O-linkedHMM predict
481Phosphoserine(IKK)HMM predict
483Phosphoserine(CK1)HMM predict
485Phosphoserine(CK1)HMM predict
487Phosphotyrosine(INSR)HMM predict
488Phosphoserine(ATM)HMM predict
488O-linkedHMM predict
488Phosphoserine(CK2)HMM predict
488Phosphoserine(CK1)HMM predict
511O-linkedHMM predict
515Phosphoserine(ATM)HMM predict
529Phosphoserine(CK1)HMM predict
550O-linkedHMM predict
740N-linkedHMM predict
785Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005489
  • Location:chr9 129540845-129573371
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129566214 129566585 371 0
CTCF CD4SISSRdata 129566214 129566585 371 0
ER MCF7GSE19013 129560840 129561375 535 0
ER MCF7GSE19013 129563982 129564696 714 0
Fos K562GSE19551 129543820 129544348 528 0
Fos K562GSE19551 129556060 129556390 330 0
NRSF JurkatGSE13047 129552997 129554366 1369 0
NRSF mAbJurkat 129549058 129549366 308 0
NRSF mAbJurkat 129552562 129554977 2415 0
NRSF-mono JurkatQuESTdata 129553134 129554361 1227 0
NRSF-poly JurkatQuESTdata 129553009 129553965 956 0
P300 T30-glioblastomaGSE21026 129542515 129543598 1083 0
TFAP2C MCF7GSE21234 129563979 129565351 1372 0
hScc1 BcellGSE12603 129543827 129544157 330 0
hScc1 BcellGSE12603 129565779 129566746 967 0
hScc1 BcellGSE12603 129572910 129573610 700 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


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