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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
Location 1p12
Location_base_pair Starts at 119957743 and ends at 119965662 bp from pter ( according to hg19-Feb_2009)
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 (Hinxton)ENSG00000203859 [Gene_View]  chr1:119957743-119965662 [Contig_View]  HSD3B2 [Vega]
AceView (NCBI)HSD3B2
Genatlas (Paris)HSD3B2
WikiGenes3284
SOURCE (Princeton)NM_000198 NM_001166120
Genomic and cartography
GoldenPath (UCSC)HSD3B2  -  1p12   chr1:119957743-119965662 +  1p12   [Description]    (hg19-Feb_2009)
EnsemblHSD3B2 - 1p12 [CytoView]
Mapping of homologs : NCBIHSD3B2 [Mapview]
OMIM201810   613890   
Gene and transcription
Genbank (Entrez)AK222997 AK313413 AV705363 BC038419 BC131488
RefSeq transcript (Entrez)NM_000198 NM_001166120
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_013349 NT_032977 NW_001838594 NW_004929290
Consensus coding sequences : CCDS (NCBI)HSD3B2
Cluster EST : UnigeneHs.654399 [ NCBI ]
CGAP (NCI)Hs.654399
Alternative Splicing : Fast-db (Paris)GSHG0000859
Alternative Splicing GalleryENSG00000203859
Gene ExpressionHSD3B2 [ NCBI-GEO ]     HSD3B2 [ SEEK ]   HSD3B2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26439 (Uniprot)
NextProtP26439  [Medical]
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 ]   
Domains : Interpro (EBI)3Beta_OHSteriod_DH/Estase    NAD(P)-bd_dom   
Related proteins : CluSTrP26439
Domain families : Pfam (Sanger)3Beta_HSD (PF01073)   
Domain families : Pfam (NCBI)pfam01073   
DMDM Disease mutations3284
Blocks (Seattle)P26439
Human Protein AtlasENSG00000203859
Peptide AtlasP26439
HPRD01941
IPIIPI00218494   IPI00465001   IPI00642070   
Protein Interaction databases
DIP (DOE-UCLA)P26439
IntAct (EBI)P26439
FunCoupENSG00000203859
BioGRIDHSD3B2
InParanoidP26439
Interologous Interaction database P26439
IntegromeDBHSD3B2
STRING (EMBL)HSD3B2
Ontologies - Pathways
Ontology : AmiGO3-beta-hydroxy-delta5-steroid dehydrogenase 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  steroid metabolic process  integral to membrane  smooth endoplasmic reticulum membrane  mitochondrial membrane  small molecule metabolic process  
Ontology : EGO-EBI3-beta-hydroxy-delta5-steroid dehydrogenase 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  steroid metabolic process  integral to membrane  smooth endoplasmic reticulum membrane  mitochondrial membrane  small molecule metabolic process  
Pathways : KEGGSteroid hormone biosynthesis    Ovarian steroidogenesis   
REACTOMEHSD3B2
Protein Interaction DatabaseHSD3B2
Wikipedia pathwaysHSD3B2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HSD3B2
SNP (GeneSNP Utah)HSD3B2
SNP : HGBaseHSD3B2
Genetic variants : HAPMAPHSD3B2
1000_GenomesHSD3B2 
ICGC programENSG00000203859 
Somatic Mutations in Cancer : COSMICHSD3B2 
CONAN: Copy Number AnalysisHSD3B2 
Mutations and Diseases : HGMDHSD3B2
OMIM201810    613890   
GENETestsHSD3B2
Disease Genetic AssociationHSD3B2
Huge Navigator HSD3B2 [HugePedia]  HSD3B2 [HugeCancerGEM]
Genomic VariantsHSD3B2  HSD3B2 [DGVbeta]
Exome VariantHSD3B2
dbVarHSD3B2
ClinVarHSD3B2
snp3D : Map Gene to Disease3284
General knowledge
Homologs : HomoloGeneHSD3B2
Homology/Alignments : Family Browser (UCSC)HSD3B2
Phylogenetic Trees/Animal Genes : TreeFamHSD3B2
Chemical/Protein Interactions : CTD3284
Chemical/Pharm GKB GenePA29487
Clinical trialHSD3B2
Cancer Resource (Charite)ENSG00000203859
Other databases
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
CoreMineHSD3B2
iHOPHSD3B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:15:47 CEST 2014

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