Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

Identity

Alias_namesmember 1
HSD11B
HSD11
Alias_symbol (synonym)SDR26C1
Other alias11-DH
11-beta-HSD1
CORTRD2
HDL
HSD11L
HGNC (Hugo) HSD11B1
LocusID (NCBI) 3290
Atlas_Id 46584
Location 1q32.2  [Link to chromosome band 1q32]
Location_base_pair Starts at 209686180 and ends at 209734950 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HNRNPH3 (10q21.3) / HSD11B1 (1q32.2)JAK1 (1p31.3) / HSD11B1 (1q32.2)JAK1 1p31.3 / HSD11B1 1q32.2

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)HSD11B1   5208
Cards
Entrez_Gene (NCBI)HSD11B1  3290  hydroxysteroid 11-beta dehydrogenase 1
Aliases11-DH; 11-beta-HSD1; CORTRD2; HDL; 
HSD11; HSD11B; HSD11L; SDR26C1
GeneCards (Weizmann)HSD11B1
Ensembl hg19 (Hinxton)ENSG00000117594 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117594 [Gene_View]  chr1:209686180-209734950 [Contig_View]  HSD11B1 [Vega]
ICGC DataPortalENSG00000117594
TCGA cBioPortalHSD11B1
AceView (NCBI)HSD11B1
Genatlas (Paris)HSD11B1
WikiGenes3290
SOURCE (Princeton)HSD11B1
Genetics Home Reference (NIH)HSD11B1
Genomic and cartography
GoldenPath hg38 (UCSC)HSD11B1  -     chr1:209686180-209734950 +  1q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD11B1  -     1q32.2   [Description]    (hg19-Feb_2009)
EnsemblHSD11B1 - 1q32.2 [CytoView hg19]  HSD11B1 - 1q32.2 [CytoView hg38]
Mapping of homologs : NCBIHSD11B1 [Mapview hg19]  HSD11B1 [Mapview hg38]
OMIM600713   614662   
Gene and transcription
Genbank (Entrez)AK313973 BC012593 BG619051 BM994393 BX345837
RefSeq transcript (Entrez)NM_001206741 NM_005525 NM_181755
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD11B1
Cluster EST : UnigeneHs.195040 [ NCBI ]
CGAP (NCI)Hs.195040
Alternative Splicing GalleryENSG00000117594
Gene ExpressionHSD11B1 [ NCBI-GEO ]   HSD11B1 [ EBI - ARRAY_EXPRESS ]   HSD11B1 [ SEEK ]   HSD11B1 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD11B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3290
GTEX Portal (Tissue expression)HSD11B1
Human Protein AtlasENSG00000117594-HSD11B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28845   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28845  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28845
Splice isoforms : SwissVarP28845
Catalytic activity : Enzyme1.1.1.146 [ Enzyme-Expasy ]   1.1.1.1461.1.1.146 [ IntEnz-EBI ]   1.1.1.146 [ BRENDA ]   1.1.1.146 [ KEGG ]   
PhosPhoSitePlusP28845
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)HSD11B1
DMDM Disease mutations3290
Blocks (Seattle)HSD11B1
PDB (SRS)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
PDB (PDBSum)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
PDB (IMB)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
PDB (RSDB)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
Structural Biology KnowledgeBase1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
SCOP (Structural Classification of Proteins)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
CATH (Classification of proteins structures)1XU7    1XU9    2BEL    2ILT    2IRW    2RBE    3BYZ    3BZU    3CH6    3CZR    3D3E    3D4N    3D5Q    3EY4    3FCO    3FRJ    3H6K    3HFG    3OQ1    3PDJ    3QQP    3TFQ    4BB5    4BB6    4C7J    4C7K    4HFR    4HX5    4IJU    4IJV    4IJW    4K1L    4P38    4YYZ   
SuperfamilyP28845
Human Protein Atlas [tissue]ENSG00000117594-HSD11B1 [tissue]
Peptide AtlasP28845
HPRD07042
IPIIPI00005682   
Protein Interaction databases
DIP (DOE-UCLA)P28845
IntAct (EBI)P28845
FunCoupENSG00000117594
BioGRIDHSD11B1
STRING (EMBL)HSD11B1
ZODIACHSD11B1
Ontologies - Pathways
QuickGOP28845
Ontology : AmiGO11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  membrane  integral component of membrane  lung development  oxidation-reduction process  11-beta-hydroxysteroid dehydrogenase (NADP+) activity  
Ontology : EGO-EBI11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  membrane  integral component of membrane  lung development  oxidation-reduction process  11-beta-hydroxysteroid dehydrogenase (NADP+) activity  
Pathways : BIOCARTAVisceral Fat Deposits and the Metabolic Syndrome [Genes]   
Pathways : KEGGSteroid hormone biosynthesis    Metabolism of xenobiotics by cytochrome P450    Chemical carcinogenesis   
NDEx NetworkHSD11B1
Atlas of Cancer Signalling NetworkHSD11B1
Wikipedia pathwaysHSD11B1
Orthology - Evolution
OrthoDB3290
GeneTree (enSembl)ENSG00000117594
Phylogenetic Trees/Animal Genes : TreeFamHSD11B1
HOVERGENP28845
HOGENOMP28845
Homologs : HomoloGeneHSD11B1
Homology/Alignments : Family Browser (UCSC)HSD11B1
Gene fusions - Rearrangements
Fusion : MitelmanJAK1/HSD11B1 [1p31.3/1q32.2]  [t(1;1)(p31;q32)]  
Fusion: TCGA_MDACCJAK1 1p31.3 HSD11B1 1q32.2 OV
Tumor Fusion PortalHSD11B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD11B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD11B1
dbVarHSD11B1
ClinVarHSD11B1
1000_GenomesHSD11B1 
Exome Variant ServerHSD11B1
ExAC (Exome Aggregation Consortium)ENSG00000117594
GNOMAD BrowserENSG00000117594
Genetic variants : HAPMAP3290
Genomic Variants (DGV)HSD11B1 [DGVbeta]
DECIPHERHSD11B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD11B1 
Mutations
ICGC Data PortalHSD11B1 
TCGA Data PortalHSD11B1 
Broad Tumor PortalHSD11B1
OASIS PortalHSD11B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD11B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD11B1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HSD11B1
DgiDB (Drug Gene Interaction Database)HSD11B1
DoCM (Curated mutations)HSD11B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD11B1 (select a term)
intoGenHSD11B1
Cancer3DHSD11B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600713    614662   
Orphanet17778   
DisGeNETHSD11B1
MedgenHSD11B1
Genetic Testing Registry HSD11B1
NextProtP28845 [Medical]
TSGene3290
GENETestsHSD11B1
Target ValidationHSD11B1
Huge Navigator HSD11B1 [HugePedia]
snp3D : Map Gene to Disease3290
BioCentury BCIQHSD11B1
ClinGenHSD11B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3290
Chemical/Pharm GKB GenePA29476
Clinical trialHSD11B1
Miscellaneous
canSAR (ICR)HSD11B1 (select the gene name)
Probes
Litterature
PubMed216 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD11B1
EVEXHSD11B1
GoPubMedHSD11B1
iHOPHSD11B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:16:54 CET 2017

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