Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12)

Identity

Alias_nameshydroxysteroid (17-beta) dehydrogenase 12
Alias_symbol (synonym)KAR
SDR12C1
Other alias
HGNC (Hugo) HSD17B12
LocusID (NCBI) 51144
Atlas_Id 50841
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 43680593 and ends at 43856619 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DEPDC1B (5q12.1) / HSD17B12 (11p11.2)HSD17B12 (11p11.2) / HSD17B12 (11p11.2)HSD17B12 (11p11.2) / MYO7A (11q13.5)
HSD17B12 (11p11.2) / TP53I11 (11p11.2)HSD17B12 11p11.2 / TP53I11 11p11.2

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)HSD17B12   18646
Cards
Entrez_Gene (NCBI)HSD17B12  51144  hydroxysteroid 17-beta dehydrogenase 12
AliasesKAR; SDR12C1
GeneCards (Weizmann)HSD17B12
Ensembl hg19 (Hinxton)ENSG00000149084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149084 [Gene_View]  chr11:43680593-43856619 [Contig_View]  HSD17B12 [Vega]
ICGC DataPortalENSG00000149084
TCGA cBioPortalHSD17B12
AceView (NCBI)HSD17B12
Genatlas (Paris)HSD17B12
WikiGenes51144
SOURCE (Princeton)HSD17B12
Genetics Home Reference (NIH)HSD17B12
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B12  -     chr11:43680593-43856619 +  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B12  -     11p11.2   [Description]    (hg19-Feb_2009)
EnsemblHSD17B12 - 11p11.2 [CytoView hg19]  HSD17B12 - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBIHSD17B12 [Mapview hg19]  HSD17B12 [Mapview hg38]
OMIM609574   
Gene and transcription
Genbank (Entrez)AF078850 AK027882 AK074952 AK075011 AK075216
RefSeq transcript (Entrez)NM_016142
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD17B12
Cluster EST : UnigeneHs.132513 [ NCBI ]
CGAP (NCI)Hs.132513
Alternative Splicing GalleryENSG00000149084
Gene ExpressionHSD17B12 [ NCBI-GEO ]   HSD17B12 [ EBI - ARRAY_EXPRESS ]   HSD17B12 [ SEEK ]   HSD17B12 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51144
GTEX Portal (Tissue expression)HSD17B12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53GQ0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53GQ0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53GQ0
Splice isoforms : SwissVarQ53GQ0
PhosPhoSitePlusQ53GQ0
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)HSD17B12
DMDM Disease mutations51144
Blocks (Seattle)HSD17B12
SuperfamilyQ53GQ0
Human Protein AtlasENSG00000149084
Peptide AtlasQ53GQ0
HPRD09989
IPIIPI00007676   IPI00788741   IPI00984097   
Protein Interaction databases
DIP (DOE-UCLA)Q53GQ0
IntAct (EBI)Q53GQ0
FunCoupENSG00000149084
BioGRIDHSD17B12
STRING (EMBL)HSD17B12
ZODIACHSD17B12
Ontologies - Pathways
QuickGOQ53GQ0
Ontology : AmiGOfibronectin binding  estradiol 17-beta-dehydrogenase activity  protein binding  collagen binding  proteinaceous extracellular matrix  endoplasmic reticulum membrane  fatty acid biosynthetic process  estrogen biosynthetic process  heparin binding  positive regulation of cell-substrate adhesion  integral component of membrane  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  extracellular matrix organization  long-chain fatty-acyl-CoA biosynthetic process  oxidation-reduction process  3-oxo-arachidoyl-CoA reductase activity  3-oxo-behenoyl-CoA reductase activity  3-oxo-lignoceroyl-CoA reductase activity  3-oxo-cerotoyl-CoA reductase activity  
Ontology : EGO-EBIfibronectin binding  estradiol 17-beta-dehydrogenase activity  protein binding  collagen binding  proteinaceous extracellular matrix  endoplasmic reticulum membrane  fatty acid biosynthetic process  estrogen biosynthetic process  heparin binding  positive regulation of cell-substrate adhesion  integral component of membrane  long-chain-3-hydroxyacyl-CoA dehydrogenase activity  extracellular matrix organization  long-chain fatty-acyl-CoA biosynthetic process  oxidation-reduction process  3-oxo-arachidoyl-CoA reductase activity  3-oxo-behenoyl-CoA reductase activity  3-oxo-lignoceroyl-CoA reductase activity  3-oxo-cerotoyl-CoA reductase activity  
Pathways : KEGGFatty acid elongation    Steroid hormone biosynthesis    Biosynthesis of unsaturated fatty acids   
NDEx NetworkHSD17B12
Atlas of Cancer Signalling NetworkHSD17B12
Wikipedia pathwaysHSD17B12
Orthology - Evolution
OrthoDB51144
GeneTree (enSembl)ENSG00000149084
Phylogenetic Trees/Animal Genes : TreeFamHSD17B12
HOVERGENQ53GQ0
HOGENOMQ53GQ0
Homologs : HomoloGeneHSD17B12
Homology/Alignments : Family Browser (UCSC)HSD17B12
Gene fusions - Rearrangements
Fusion : MitelmanHSD17B12/TP53I11 [11p11.2/11p11.2]  
Fusion: TCGAHSD17B12 11p11.2 TP53I11 11p11.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B12
dbVarHSD17B12
ClinVarHSD17B12
1000_GenomesHSD17B12 
Exome Variant ServerHSD17B12
ExAC (Exome Aggregation Consortium)HSD17B12 (select the gene name)
Genetic variants : HAPMAP51144
Genomic Variants (DGV)HSD17B12 [DGVbeta]
DECIPHERHSD17B12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD17B12 
Mutations
ICGC Data PortalHSD17B12 
TCGA Data PortalHSD17B12 
Broad Tumor PortalHSD17B12
OASIS PortalHSD17B12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B12
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 HSD17B12
DgiDB (Drug Gene Interaction Database)HSD17B12
DoCM (Curated mutations)HSD17B12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B12 (select a term)
intoGenHSD17B12
Cancer3DHSD17B12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609574   
Orphanet
MedgenHSD17B12
Genetic Testing Registry HSD17B12
NextProtQ53GQ0 [Medical]
TSGene51144
GENETestsHSD17B12
Huge Navigator HSD17B12 [HugePedia]
snp3D : Map Gene to Disease51144
BioCentury BCIQHSD17B12
ClinGenHSD17B12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51144
Chemical/Pharm GKB GenePA38618
Clinical trialHSD17B12
Miscellaneous
canSAR (ICR)HSD17B12 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B12
EVEXHSD17B12
GoPubMedHSD17B12
iHOPHSD17B12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:19:33 CEST 2017

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