AutismKB 2.0

Annotation Detail for AKR1C2


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Basic Information Top
Gene Symbol:AKR1C2 ( AKR1C-pseudo,BABP,DD,DD2,DDH2,FLJ53800,HAKRD,HBAB,MCDR2 )
Gene Full Name: aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)
Band: 10p15.1
Quick LinksEntrez ID:1646; OMIM: 600450; Uniprot ID:AK1C2_HUMAN; ENSEMBL ID: ENSG00000151632; HGNC ID: 385
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4N6-acetyllysine.
161N6-acetyllysine.
179N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
24Phosphotyrosine(INSR)HMM predict
196PhosphotyrosineHMM predict
232Phosphoserine(MAPK)HMM predict
251Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001354
  • Location:chr10 5021965-5050206
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 5051103 5051351 248 1021
TFAP2C MCF7GSE21234 5050691 5051041 350 660
TFAP2C MCF7GSE21234 5057565 5058149 584 7651
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 5041369 5041836 467 0
FOXA1 MCF7GSE15244 5040551 5041723 1172 0
FoxA1 MCF7MACSdata 5041349 5041643 294 0
H3ac HepG2E 5035409 5036018 609 0
Oct1 HelaGSE14283 5048682 5048716 34 0
RARA MCF7GSE15244 5041003 5041680 677 0
RARG MCF7GSE15244 5023574 5023834 260 0
RARG MCF7GSE15244 5040551 5041723 1172 0
TAF k562GSE8489 5035564 5036053 489 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-21 hsa-mir-21 17 20335152
hsa-miR-21* hsa-mir-21 17 20335152
No data
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