AutismKB 2.0

Annotation Details for AKR1C3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AKR1C3 ( DD3,DDX,HA1753,HAKRB,HAKRe,HSD17B5,KIAA0119,PGFS,hluPGFS )
Gene Full Name: aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)
Band: 10p15.1
Quick LinksEntrez ID:8644; OMIM: 603966; Uniprot ID:AK1C3_HUMAN; ENSEMBL ID: ENSG00000196139; HGNC ID: 386
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IDA-intracellular-
GO:0005634IDA-nucleus18574251
GO:0005737IDA-cytoplasm18574251
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome23376485
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2145420
  • Data Attributes: HomoloGene calculated

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