AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
47Phosphoserine(CK1)HMM predict
51N-linkedHMM predict
133Phosphotyrosine(EGFR)HMM predict
218O-linkedHMM predict
256Phosphoserine(ATM)HMM predict
320Phosphothreonine(PKA)HMM predict
352Phosphothreonine(PKC)HMM predict
366Phosphothreonine(PKA)HMM predict
366Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000198
  • Location:chr1 119759295-119767171
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 119779581 119779619 38 12429
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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