Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2)

Identity

Alias_namesmember 3
Alias_symbol (synonym)SDR9C3
Other aliasAME
AME1
HSD11K
HSD2
HGNC (Hugo) HSD11B2
LocusID (NCBI) 3291
Atlas_Id 45783
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67431133 and ends at 67437551 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DUS2 (16q22.1) / HSD11B2 (16q22.1)HIRA (22q11.21) / HSD11B2 (16q22.1)HSD11B2 (16q22.1) / EEF2 (19p13.3)
HSD11B2 (16q22.1) / HSD11B2 (16q22.1)HSD11B2 (16q22.1) / SLC39A1 (1q21.3)DUS2L HSD11B2 16q22.1

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)HSD11B2   5209
Cards
Entrez_Gene (NCBI)HSD11B2  3291  hydroxysteroid 11-beta dehydrogenase 2
AliasesAME; AME1; HSD11K; HSD2; 
SDR9C3
GeneCards (Weizmann)HSD11B2
Ensembl hg19 (Hinxton)ENSG00000176387 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176387 [Gene_View]  chr16:67431133-67437551 [Contig_View]  HSD11B2 [Vega]
ICGC DataPortalENSG00000176387
TCGA cBioPortalHSD11B2
AceView (NCBI)HSD11B2
Genatlas (Paris)HSD11B2
WikiGenes3291
SOURCE (Princeton)HSD11B2
Genetics Home Reference (NIH)HSD11B2
Genomic and cartography
GoldenPath hg38 (UCSC)HSD11B2  -     chr16:67431133-67437551 +  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD11B2  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblHSD11B2 - 16q22.1 [CytoView hg19]  HSD11B2 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIHSD11B2 [Mapview hg19]  HSD11B2 [Mapview hg38]
OMIM218030   614232   
Gene and transcription
Genbank (Entrez)BC036780 BC064536 U14631 U26726
RefSeq transcript (Entrez)NM_000196
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD11B2
Cluster EST : UnigeneHs.1376 [ NCBI ]
CGAP (NCI)Hs.1376
Alternative Splicing GalleryENSG00000176387
Gene ExpressionHSD11B2 [ NCBI-GEO ]   HSD11B2 [ EBI - ARRAY_EXPRESS ]   HSD11B2 [ SEEK ]   HSD11B2 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD11B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3291
GTEX Portal (Tissue expression)HSD11B2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP80365   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP80365  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP80365
Splice isoforms : SwissVarP80365
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusP80365
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD11B2
DMDM Disease mutations3291
Blocks (Seattle)HSD11B2
SuperfamilyP80365
Human Protein AtlasENSG00000176387
Peptide AtlasP80365
HPRD01958
IPIIPI00300050   
Protein Interaction databases
DIP (DOE-UCLA)P80365
IntAct (EBI)P80365
FunCoupENSG00000176387
BioGRIDHSD11B2
STRING (EMBL)HSD11B2
ZODIACHSD11B2
Ontologies - Pathways
QuickGOP80365
Ontology : AmiGOresponse to hypoxia  regulation of blood volume by renal aldosterone  11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity  steroid binding  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  female pregnancy  response to food  response to insulin  response to drug  NAD binding  response to glucocorticoid  oxidation-reduction process  
Ontology : EGO-EBIresponse to hypoxia  regulation of blood volume by renal aldosterone  11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity  steroid binding  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  female pregnancy  response to food  response to insulin  response to drug  NAD binding  response to glucocorticoid  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis    Aldosterone-regulated sodium reabsorption   
NDEx NetworkHSD11B2
Atlas of Cancer Signalling NetworkHSD11B2
Wikipedia pathwaysHSD11B2
Orthology - Evolution
OrthoDB3291
GeneTree (enSembl)ENSG00000176387
Phylogenetic Trees/Animal Genes : TreeFamHSD11B2
HOVERGENP80365
HOGENOMP80365
Homologs : HomoloGeneHSD11B2
Homology/Alignments : Family Browser (UCSC)HSD11B2
Gene fusions - Rearrangements
Fusion : MitelmanDUS2/HSD11B2 [16q22.1/16q22.1]  [t(16;16)(q22;q22)]  
Fusion: TCGADUS2L HSD11B2 16q22.1 SKCM
Fusion Cancer (Beijing)HSD11B2 [16q22.1]  -  EEF2 [19p13.3]  [FUSC002160]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD11B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD11B2
dbVarHSD11B2
ClinVarHSD11B2
1000_GenomesHSD11B2 
Exome Variant ServerHSD11B2
ExAC (Exome Aggregation Consortium)HSD11B2 (select the gene name)
Genetic variants : HAPMAP3291
Genomic Variants (DGV)HSD11B2 [DGVbeta]
DECIPHERHSD11B2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD11B2 
Mutations
ICGC Data PortalHSD11B2 
TCGA Data PortalHSD11B2 
Broad Tumor PortalHSD11B2
OASIS PortalHSD11B2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD11B2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD11B2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HSD11B2
DgiDB (Drug Gene Interaction Database)HSD11B2
DoCM (Curated mutations)HSD11B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD11B2 (select a term)
intoGenHSD11B2
Cancer3DHSD11B2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM218030    614232   
Orphanet8740   
MedgenHSD11B2
Genetic Testing Registry HSD11B2
NextProtP80365 [Medical]
TSGene3291
GENETestsHSD11B2
Target ValidationHSD11B2
Huge Navigator HSD11B2 [HugePedia]
snp3D : Map Gene to Disease3291
BioCentury BCIQHSD11B2
ClinGenHSD11B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3291
Chemical/Pharm GKB GenePA29477
Clinical trialHSD11B2
Miscellaneous
canSAR (ICR)HSD11B2 (select the gene name)
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD11B2
EVEXHSD11B2
GoPubMedHSD11B2
iHOPHSD11B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:12:22 CEST 2017

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