AutismKB 2.0

Annotation Detail for HSD17B2


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Basic Information Top
Gene Symbol:HSD17B2 ( EDH17B2,HSD17,SDR9C2 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 2
Band: 16q23.3
Quick LinksEntrez ID:3294; OMIM: 109685; Uniprot ID:DHB2_HUMAN; ENSEMBL ID: ENSG00000086696; HGNC ID: 5211
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
273Phosphoserine.
Location(AA) Modifications Resource
273Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
8O-linkedHMM predict
216N-linkedHMM predict
218O-linkedHMM predict
231Phosphoserine(CAMK2)HMM predict
231Phosphoserine(PKB)HMM predict
234Phosphoserine(CDK)HMM predict
299Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002153
  • Location:chr16 80626363-80689637
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 80622552 80623025 473 3575
Sox2 hESGSE18292 80622546 80622853 307 3664
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 80695108 80695148 40 5491
p63 keratinocytesGSE17611 80702696 80703673 977 13547
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 80628806 80629287 481 0
CBP T30-glioblastomaGSE21026 80653418 80654598 1180 0
CTCF CD4GSE12889 80653128 80653235 107 0
CTCF CD4SISSRdata 80653128 80653235 107 0
CTCF G2GSE9613 80652954 80653249 295 0
ER Breast-CancerGSE22609 80674924 80675479 555 0
ER Fulvestrant-MCF7GSE14664 80658131 80658174 43 0
FOXA1 MCF7GSE15244 80631384 80632064 680 0
H3K4me3 colorectalcancer 80626842 80627355 513 0
H3ac HepG2E 80626697 80627761 1064 0
Nanog hESGSE18292 80686320 80686735 415 0
P300 T0-glioblastomaGSE21026 80628388 80629366 978 0
P300 T0-glioblastomaGSE21026 80653468 80655237 1769 0
P300 T30-glioblastomaGSE21026 80652897 80655196 2299 0
P300 T30-glioblastomaGSE21026 80661703 80662928 1225 0
P300 T30-glioblastomaGSE21026 80673548 80674627 1079 0
RARA MCF7GSE15244 80674079 80674393 314 0
RARA MCF7GSE15244 80679799 80680034 235 0
Rb GrowingGSE19898 80655279 80655463 184 0
Sox2 hESGSE18292 80686179 80686612 433 0
VDR GM10855-stimGSE22484 80672975 80674849 1874 0
VDR GM10861-stimGSE22484 80672808 80675326 2518 0
p63 keratinocytesGSE17611 80646664 80647977 1313 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10298 mRNA HSD17B2 chr16 80626363 80689638 20 EST chr16 80635441 80662067Sense/Antisense (SA) pairs

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


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