AutismKB 2.0

Annotation Details for HSD3B2


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Basic Information Top
Gene Symbol:HSD3B2 ( HSD3B,HSDB,SDR11E2 )
Gene Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Band: 1p12
Quick LinksEntrez ID:3284; OMIM: 201810; Uniprot ID:3BHS2_HUMAN; ENSEMBL ID: ENSG00000203859; HGNC ID: 5218
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005743ISS-mitochondrial inner membrane-
GO:0005758ISS-mitochondrial intermembrane space-
GO:0005783NAS-endoplasmic reticulum1944309
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0016021NAS-integral component of membrane1944309
GO:0030868ISS-smooth endoplasmic reticulum membrane-
GO:0031966NAS-mitochondrial membrane1944309
GO ID Evidence Qualifier GO_term References
GO:0003854IDA-3-beta-hydroxy-delta5-steroid dehydrogenase activity1944309
GO:0003854TAS-3-beta-hydroxy-delta5-steroid dehydrogenase activity-
GO:0004769IDA-steroid delta-isomerase activity1944309
GO:0004769TAS-steroid delta-isomerase activity-
GO ID Evidence Qualifier GO_term References
GO:0006694IDA-steroid biosynthetic process1944309
GO:0006702TAS-androgen biosynthetic process-
GO:0006704TAS-glucocorticoid biosynthetic process-
GO:0006705TAS-mineralocorticoid biosynthetic process-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96233
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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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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