AutismKB 2.0

Annotation Detail for IMPDH2


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Basic Information Top
Gene Symbol:IMPDH2 ( IMPD2,IMPDH-II )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 2
Band: 3p21.31
Quick LinksEntrez ID:3615; OMIM: 146691; Uniprot ID:IMDH2_HUMAN; ENSEMBL ID: ENSG00000178035; HGNC ID: 6053
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
122Phosphoserine.
400Phosphotyrosine.
416Phosphoserine.
511N6-acetyllysine.
Location(AA) Modifications Resource
400Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
94N-linkedHMM predict
122Phosphoserine(CDC2)HMM predict
180Phosphothreonine(PKC)HMM predict
276Phosphoserine(ATM)HMM predict
329Phosphoserine(IKK)HMM predict
494Phosphothreonine(PKA)HMM predict
495Phosphoserine(CK1)HMM predict
496Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000884
  • Location:chr3 49036771-49041878
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb SenescentGSE19898 49041737 49042151 414 66
p130 SenescentGSE19898 49041654 49042158 504 28
p130 shRbSenescentGSE19898 49041643 49042140 497 13
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49037644 49038410 766 0
CTCF G2GSE9613 49041319 49041958 639 0
H3ac HepG2E 49039758 49041734 1976 0
Myc K562GSE19551 49041215 49042077 862 0
Oct1 HelaGSE14283 49041651 49041699 48 0
P300 T30-glioblastomaGSE21026 49041104 49042448 1344 0
PHF8 293TGSE20725 49041419 49042212 793 0
PHF8 HeLaGSE20725 49041088 49042177 1089 0
hScc1 BcellGSE12603 49041430 49041994 564 0
hScc1 CdLSGSE12603 49041393 49042060 667 0
hScc1 G2GSE9613 49041498 49041994 496 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18071 EST chr3 49041659 49042141 137 mRNA IMPDH2 chr3 49036766 49041826Sense/Antisense (SA) pairs

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