AutismKB 2.0

Annotation Detail for BDH2


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Basic Information Top
Gene Symbol:BDH2 ( DHRS6,EFA6R,FLJ13261,PRO20933,SDR15C1,UCPA-OR,UNQ6308 )
Gene Full Name: 3-hydroxybutyrate dehydrogenase, type 2
Band: 4q24
Quick LinksEntrez ID:56898; OMIM: NA; Uniprot ID:BDH2_HUMAN; ENSEMBL ID: ENSG00000164039; HGNC ID: 32389
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48N6-acetyllysine.
132Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
130N-linkedHMM predict
136PhosphoserineHMM predict
182Phosphothreonine(CDK)HMM predict
208Phosphothreonine(PKA)HMM predict
208Phosphothreonine(PKC)HMM predict
231Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020139
  • Location:chr4 104218231-104240472
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 104240357 104240716 359 64
CTCF CD4SISSRdata 104240357 104240716 359 64
P300 T0-glioblastomaGSE21026 104240151 104240913 762 60
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 104217417 104218251 834 398
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 104227714 104228006 292 0
CTCF G2GSE9613 104231982 104232663 681 0
ETS1 JurkatGSE17954 104239765 104241062 1297 0
H3ac HepG2E 104238792 104239002 210 0
Nanog hESGSE18292 104232369 104232530 161 0
Nanog hESGSE18292 104240139 104240729 590 0
P300 T30-glioblastomaGSE21026 104240017 104240796 779 0
Sox2 hESGSE18292 104232366 104232535 169 0
hScc1 BcellGSE12603 104231881 104232554 673 0
hScc1 CdLSGSE12603 104232051 104232624 573 0
hScc1 G2GSE9613 104231881 104232663 782 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