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HSD17B12 (hydroxysteroid 17-beta dehydrogenase 12)

Identity

Alias (NCBI)KAR
SDR12C1
HGNC (Hugo) HSD17B12
HGNC Alias symbKAR
SDR12C1
HGNC Alias name3-ketoacyl-CoA reductase
 short chain dehydrogenase/reductase family 12C, member 1
HGNC Previous namehydroxysteroid (17-beta) dehydrogenase 12
LocusID (NCBI) 51144
Atlas_Id 50841
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 43680738 and ends at 43856612 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)
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    hydroxysteroid 17-beta dehydrogenase 12
AliasesKAR; SDR12C1
GeneCards (Weizmann)HSD17B12
Ensembl hg19 (Hinxton)ENSG00000149084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149084 [Gene_View]  ENSG00000149084 [Sequence]  chr11:43680738-43856612 [Contig_View]  HSD17B12 [Vega]
ICGC DataPortalENSG00000149084
TCGA cBioPortalHSD17B12
AceView (NCBI)HSD17B12
Genatlas (Paris)HSD17B12
SOURCE (Princeton)HSD17B12
Genetics Home Reference (NIH)HSD17B12
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B12  -     chr11:43680738-43856612 +  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B12  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathHSD17B12 - 11p11.2 [CytoView hg19]  HSD17B12 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000149084
Genome Data Viewer NCBIHSD17B12 [Mapview hg19]  
OMIM609574   
Gene and transcription
Genbank (Entrez)AF078850 AK027882 AK074952 AK075011 AK075216
RefSeq transcript (Entrez)NM_016142
Consensus coding sequences : CCDS (NCBI)HSD17B12
Gene ExpressionHSD17B12 [ NCBI-GEO ]   HSD17B12 [ EBI - ARRAY_EXPRESS ]   HSD17B12 [ SEEK ]   HSD17B12 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B12 [ Firebrowse - Broad ]
GenevisibleExpression of HSD17B12 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51144
GTEX Portal (Tissue expression)HSD17B12
Human Protein AtlasENSG00000149084-HSD17B12 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ53GQ0
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom_sf    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B12
SuperfamilyQ53GQ0
AlphaFold pdb e-kbQ53GQ0   
Human Protein Atlas [tissue]ENSG00000149084-HSD17B12 [tissue]
HPRD09989
Protein Interaction databases
DIP (DOE-UCLA)Q53GQ0
IntAct (EBI)Q53GQ0
BioGRIDHSD17B12
STRING (EMBL)HSD17B12
ZODIACHSD17B12
Ontologies - Pathways
QuickGOQ53GQ0
Ontology : AmiGOfibronectin binding  protein binding  collagen binding  endoplasmic reticulum membrane  fatty acid biosynthetic process  estrogen biosynthetic process  heparin binding  fatty acid elongase complex  positive regulation of cell-substrate adhesion  integral component of membrane  extracellular matrix organization  extracellular matrix  long-chain fatty-acyl-CoA biosynthetic process  17-beta-hydroxysteroid dehydrogenase (NAD+) activity  long-chain-fatty-acyl-CoA reductase activity  17-beta-hydroxysteroid dehydrogenase (NADP+) activity  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  protein binding  collagen binding  endoplasmic reticulum membrane  fatty acid biosynthetic process  estrogen biosynthetic process  heparin binding  fatty acid elongase complex  positive regulation of cell-substrate adhesion  integral component of membrane  extracellular matrix organization  extracellular matrix  long-chain fatty-acyl-CoA biosynthetic process  17-beta-hydroxysteroid dehydrogenase (NAD+) activity  long-chain-fatty-acyl-CoA reductase activity  17-beta-hydroxysteroid dehydrogenase (NADP+) activity  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
Homologs : HomoloGeneHSD17B12
Homology/Alignments : Family Browser (UCSC)HSD17B12
Gene fusions - Rearrangements
Fusion : MitelmanHSD17B12/TP53I11 [11p11.2/11p11.2]  
Fusion : QuiverHSD17B12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B12
dbVarHSD17B12
ClinVarHSD17B12
MonarchHSD17B12
1000_GenomesHSD17B12 
Exome Variant ServerHSD17B12
GNOMAD BrowserENSG00000149084
Varsome BrowserHSD17B12
ACMGHSD17B12 variants
VarityQ53GQ0
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]  
Somatic Mutations in Cancer : COSMIC3DHSD17B12
Mutations and Diseases : HGMDHSD17B12
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHSD17B12
DgiDB (Drug Gene Interaction Database)HSD17B12
DoCM (Curated mutations)HSD17B12
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B12
Cancer3DHSD17B12
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609574   
Orphanet
DisGeNETHSD17B12
MedgenHSD17B12
Genetic Testing Registry HSD17B12
NextProtQ53GQ0 [Medical]
GENETestsHSD17B12
Target ValidationHSD17B12
Huge Navigator HSD17B12 [HugePedia]
ClinGenHSD17B12
Clinical trials, drugs, therapy
MyCancerGenomeHSD17B12
Protein Interactions : CTDHSD17B12
Pharm GKB GenePA38618
PharosQ53GQ0
Clinical trialHSD17B12
Miscellaneous
canSAR (ICR)HSD17B12
HarmonizomeHSD17B12
DataMed IndexHSD17B12
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHSD17B12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:13:03 CEST 2021

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