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HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)

Identity

Other namesHSD3B
HSDB
SDR11E2
HGNC (Hugo) HSD3B2
LocusID (NCBI) 3284
Atlas_Id 49968
Location 1p12
Location_base_pair Starts at 119957743 and ends at 119965662 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NF2 (22q12.2) / HSD3B2 (1p12)NF2 22q12.2 / HSD3B2 1p12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HSD3B2   5218
Cards
Entrez_Gene (NCBI)HSD3B2  3284  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
GeneCards (Weizmann)HSD3B2
Ensembl hg19 (Hinxton)ENSG00000203859 [Gene_View]  chr1:119957743-119965662 [Contig_View]  HSD3B2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000203859 [Gene_View]  chr1:119957743-119965662 [Contig_View]  HSD3B2 [Vega]
ICGC DataPortalENSG00000203859
TCGA cBioPortalHSD3B2
AceView (NCBI)HSD3B2
Genatlas (Paris)HSD3B2
WikiGenes3284
SOURCE (Princeton)HSD3B2
Genomic and cartography
GoldenPath hg19 (UCSC)HSD3B2  -     chr1:119957743-119965662 +  1p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD3B2  -     1p12   [Description]    (hg38-Dec_2013)
EnsemblHSD3B2 - 1p12 [CytoView hg19]  HSD3B2 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIHSD3B2 [Mapview hg19]  HSD3B2 [Mapview hg38]
OMIM201810   613890   
Gene and transcription
Genbank (Entrez)AK222997 AK313413 AV705363 BC038419 BC131488
RefSeq transcript (Entrez)NM_000198 NM_001166120
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_013349 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)HSD3B2
Cluster EST : UnigeneHs.654399 [ NCBI ]
CGAP (NCI)Hs.654399
Alternative Splicing GalleryENSG00000203859
Gene ExpressionHSD3B2 [ NCBI-GEO ]   HSD3B2 [ EBI - ARRAY_EXPRESS ]   HSD3B2 [ SEEK ]   HSD3B2 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD3B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3284
GTEX Portal (Tissue expression)HSD3B2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26439 (Uniprot)
NextProtP26439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26439
Splice isoforms : SwissVarP26439 (Swissvar)
Catalytic activity : Enzyme1.1.1.145 [ Enzyme-Expasy ]   1.1.1.1451.1.1.145 [ IntEnz-EBI ]   1.1.1.145 [ BRENDA ]   1.1.1.145 [ KEGG ]   
PhosPhoSitePlusP26439
Domains : Interpro (EBI)3Beta_OHSteriod_DH/Estase    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3Beta_HSD (PF01073)   
Domain families : Pfam (NCBI)pfam01073   
DMDM Disease mutations3284
Blocks (Seattle)HSD3B2
SuperfamilyP26439
Human Protein AtlasENSG00000203859
Peptide AtlasP26439
HPRD01941
IPIIPI00218494   IPI00465001   IPI00642070   
Protein Interaction databases
DIP (DOE-UCLA)P26439
IntAct (EBI)P26439
FunCoupENSG00000203859
BioGRIDHSD3B2
STRING (EMBL)HSD3B2
ZODIACHSD3B2
Ontologies - Pathways
QuickGOP26439
Ontology : AmiGO3-beta-hydroxy-delta5-steroid dehydrogenase activity  3-beta-hydroxy-delta5-steroid dehydrogenase activity  steroid delta-isomerase activity  steroid delta-isomerase activity  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  integral component of membrane  smooth endoplasmic reticulum membrane  mitochondrial membrane  oxidation-reduction process  
Ontology : EGO-EBI3-beta-hydroxy-delta5-steroid dehydrogenase activity  3-beta-hydroxy-delta5-steroid dehydrogenase activity  steroid delta-isomerase activity  steroid delta-isomerase activity  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  integral component of membrane  smooth endoplasmic reticulum membrane  mitochondrial membrane  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis    Ovarian steroidogenesis   
NDEx Network
Atlas of Cancer Signalling NetworkHSD3B2
Wikipedia pathwaysHSD3B2
Orthology - Evolution
OrthoDB3284
GeneTree (enSembl)ENSG00000203859
Phylogenetic Trees/Animal Genes : TreeFamHSD3B2
Homologs : HomoloGeneHSD3B2
Homology/Alignments : Family Browser (UCSC)HSD3B2
Gene fusions - Rearrangements
Fusion: TCGANF2 22q12.2 HSD3B2 1p12 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerHSD3B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD3B2
dbVarHSD3B2
ClinVarHSD3B2
1000_GenomesHSD3B2 
Exome Variant ServerHSD3B2
ExAC (Exome Aggregation Consortium)HSD3B2 (select the gene name)
Genetic variants : HAPMAP3284
Genomic Variants (DGV)HSD3B2 [DGVbeta]
Mutations
ICGC Data PortalHSD3B2 
TCGA Data PortalHSD3B2 
Broad Tumor PortalHSD3B2
OASIS PortalHSD3B2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD3B2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HSD3B2
DgiDB (Drug Gene Interaction Database)HSD3B2
DoCM (Curated mutations)HSD3B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD3B2 (select a term)
intoGenHSD3B2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:119957743-119965662  ENSG00000203859
CONAN: Copy Number AnalysisHSD3B2 
Mutations and Diseases : HGMDHSD3B2
OMIM201810    613890   
MedgenHSD3B2
Genetic Testing Registry HSD3B2
NextProtP26439 [Medical]
TSGene3284
GENETestsHSD3B2
Huge Navigator HSD3B2 [HugePedia]
snp3D : Map Gene to Disease3284
BioCentury BCIQHSD3B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3284
Chemical/Pharm GKB GenePA29487
Clinical trialHSD3B2
Miscellaneous
canSAR (ICR)HSD3B2 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD3B2
EVEXHSD3B2
GoPubMedHSD3B2
iHOPHSD3B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:49:54 CEST 2016

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