AutismKB 2.0

Annotation Detail for D2HGDH


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Basic Information Top
Gene Symbol:D2HGDH ( D2HGD,FLJ42195,MGC25181 )
Gene Full Name: D-2-hydroxyglutarate dehydrogenase
Band: 2q37.3
Quick LinksEntrez ID:728294; OMIM: 609186; Uniprot ID:D2HDH_HUMAN; ENSEMBL ID: ENSG00000180902; HGNC ID: 28358
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
42Phosphothreonine(CDC2)HMM predict
42Phosphothreonine(CDK)HMM predict
48Phosphothreonine(PKC)HMM predict
60O-linkedHMM predict
180Phosphotyrosine(EGFR)HMM predict
329Phosphoserine(MAPK)HMM predict
390Phosphothreonine(PKA)HMM predict
443N-linkedHMM predict
462Phosphotyrosine(SRC)HMM predict
488Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152783
  • Location:chr2 242322727-242356896
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242321500 242321747 247 1104
TFAP2C MCF7GSE21234 242321248 242322333 1085 937
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242358674 242358860 186 1871
CTCF G2GSE9613 242359287 242359664 377 2579
CTCF G2GSE9613 242360773 242360983 210 3982
H3ac HepG2E 242358450 242360107 1657 2382
Nanog hESGSE18292 242359683 242359843 160 2867
USF1 HepG2E 242359562 242360107 545 2938
hScc1 BcellGSE12603 242357965 242358751 786 1462
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 242322140 242323768 1628 0
CTCF G2GSE9613 242330356 242330660 304 0
CTCF G2GSE9613 242337051 242337268 217 0
CTCF G2GSE9613 242340317 242340804 487 0
CTCF G2GSE9613 242341810 242342302 492 0
CTCF G2GSE9613 242343006 242343759 753 0
CTCF G2GSE9613 242348985 242349206 221 0
CTCF G2GSE9613 242352847 242353336 489 0
CTCF G2GSE9613 242356012 242356624 612 0
FOXA1 MCF7GSE15244 242350472 242351101 629 0
H3ac HepG2E 242329541 242330070 529 0
PHF8 HeLaGSE20725 242322129 242324199 2070 0
PHF8 Hs68minusFBSGSE20725 242322381 242323388 1007 0
PHF8 Hs68plusFBSGSE20725 242322310 242323944 1634 0
TAF HelaGSE8489 242347664 242347913 249 0
hScc1 BcellGSE12603 242336537 242336691 154 0
hScc1 BcellGSE12603 242340633 242340940 307 0
hScc1 BcellGSE12603 242343006 242343658 652 0
hScc1 BcellGSE12603 242352847 242353008 161 0
hScc1 G2GSE9613 242322450 242323061 611 0
hScc1 G2GSE9613 242323347 242323768 421 0
hScc1 G2GSE9613 242352985 242353336 351 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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