AutismKB 2.0

Annotation Detail for HSD11B2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HSD11B2 ( AME,AME1,HSD11K,HSD2,SDR9C3 )
Gene Full Name: hydroxysteroid (11-beta) dehydrogenase 2
Band: 16q22.1
Quick LinksEntrez ID:3291; OMIM: 218030; Uniprot ID:DHI2_HUMAN; ENSEMBL ID: ENSG00000176387; HGNC ID: 5209
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
128S-palmitoylHMM predict
216Phosphothreonine(PKC)HMM predict
219Phosphoserine(CDC2)HMM predict
234Phosphothreonine(PKC)HMM predict
371S-palmitoylHMM predict
384Phosphothreonine(CDK)HMM predict
396Phosphoserine(ATM)HMM predict
396PhosphoserineHMM predict
396Phosphoserine(CDC2)HMM predict
396O-linkedHMM predict
400Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000196
  • Location:chr16 66022536-66028952
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 66019568 66019822 254 2842
CTCF CD4SISSRdata 66019568 66019822 254 2842
CTCF HelaGSE12889 66019620 66019810 190 2822
CTCF JurkatGSE12889 66019560 66019802 242 2856
CTCF G2GSE9613 66018394 66018841 447 3919
CTCF G2GSE9613 66019202 66019923 721 2974
CTCF G2GSE9613 66020968 66021655 687 1225
CTCF G2GSE9613 66021997 66022211 214 433
hScc1 BcellGSE12603 66019446 66019887 441 2870
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 66022523 66022933 410 0
hScc1 BcellGSE12603 66026964 66027307 343 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