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HSD17B10 (hydroxysteroid (17-beta) dehydrogenase 10)

Identity

Alias_namesHADH2
MRXS10
hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II
mental retardation, X-linked, syndromic 10
hydroxysteroid (17-beta) dehydrogenase 10
Alias_symbol (synonym)ERAB
MHBD
17b-HSD10
ABAD
SDR5C1
MRPP2
CAMR
Other aliasDUPXp11.22
HCD2
MRX17
MRX31
SCHAD
HGNC (Hugo) HSD17B10
LocusID (NCBI) 3028
Atlas_Id 51095
Location Xp11.22  [Link to chromosome band Xp11]
Location_base_pair Starts at 53458206 and ends at 53461323 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HSD17B10 (Xp11.22) / APEX1 (14q11.2)

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)HSD17B10   4800
LRG (Locus Reference Genomic)LRG_450
Cards
Entrez_Gene (NCBI)HSD17B10  3028  hydroxysteroid (17-beta) dehydrogenase 10
Aliases17b-HSD10; ABAD; CAMR; DUPXp11.22; 
ERAB; HADH2; HCD2; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1
GeneCards (Weizmann)HSD17B10
Ensembl hg19 (Hinxton)ENSG00000072506 [Gene_View]  chrX:53458206-53461323 [Contig_View]  HSD17B10 [Vega]
Ensembl hg38 (Hinxton)ENSG00000072506 [Gene_View]  chrX:53458206-53461323 [Contig_View]  HSD17B10 [Vega]
ICGC DataPortalENSG00000072506
TCGA cBioPortalHSD17B10
AceView (NCBI)HSD17B10
Genatlas (Paris)HSD17B10
WikiGenes3028
SOURCE (Princeton)HSD17B10
Genetics Home Reference (NIH)HSD17B10
Genomic and cartography
GoldenPath hg19 (UCSC)HSD17B10  -     chrX:53458206-53461323 -  Xp11.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HSD17B10  -     Xp11.22   [Description]    (hg38-Dec_2013)
EnsemblHSD17B10 - Xp11.22 [CytoView hg19]  HSD17B10 - Xp11.22 [CytoView hg38]
Mapping of homologs : NCBIHSD17B10 [Mapview hg19]  HSD17B10 [Mapview hg38]
OMIM300220   300256   300438   
Gene and transcription
Genbank (Entrez)AF035555 AF069134 AU132847 AY092415 BC000372
RefSeq transcript (Entrez)NM_001037811 NM_004493
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008153 NT_011630 NW_004929442
Consensus coding sequences : CCDS (NCBI)HSD17B10
Cluster EST : UnigeneHs.171280 [ NCBI ]
CGAP (NCI)Hs.171280
Alternative Splicing GalleryENSG00000072506
Gene ExpressionHSD17B10 [ NCBI-GEO ]   HSD17B10 [ EBI - ARRAY_EXPRESS ]   HSD17B10 [ SEEK ]   HSD17B10 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B10 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3028
GTEX Portal (Tissue expression)HSD17B10
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99714   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99714  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99714
Splice isoforms : SwissVarQ99714
Catalytic activity : Enzyme1.1.1.35 [ Enzyme-Expasy ]   1.1.1.351.1.1.35 [ IntEnz-EBI ]   1.1.1.35 [ BRENDA ]   1.1.1.35 [ KEGG ]   
PhosPhoSitePlusQ99714
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)DH_sc/Rdtase_SDR    Glc/ribitol_DH    NAD(P)-bd_dom    Sc_DH/Rdtase_CS   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B10
DMDM Disease mutations3028
Blocks (Seattle)HSD17B10
PDB (SRS)1F67    1SO8    1U7T    2O23   
PDB (PDBSum)1F67    1SO8    1U7T    2O23   
PDB (IMB)1F67    1SO8    1U7T    2O23   
PDB (RSDB)1F67    1SO8    1U7T    2O23   
Structural Biology KnowledgeBase1F67    1SO8    1U7T    2O23   
SCOP (Structural Classification of Proteins)1F67    1SO8    1U7T    2O23   
CATH (Classification of proteins structures)1F67    1SO8    1U7T    2O23   
SuperfamilyQ99714
Human Protein AtlasENSG00000072506
Peptide AtlasQ99714
HPRD02223
IPIIPI00017726   IPI00336094   IPI00639797   
Protein Interaction databases
DIP (DOE-UCLA)Q99714
IntAct (EBI)Q99714
FunCoupENSG00000072506
BioGRIDHSD17B10
STRING (EMBL)HSD17B10
ZODIACHSD17B10
Ontologies - Pathways
QuickGOQ99714
Ontology : AmiGObeta-amyloid binding  3-hydroxyacyl-CoA dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  steroid binding  protein binding  cytoplasm  mitochondrion  mitochondrial matrix  plasma membrane  lipid metabolic process  cell aging  cholate 7-alpha-dehydrogenase activity  branched-chain amino acid catabolic process  acetoacetyl-CoA reductase activity  testosterone dehydrogenase [NAD(P)] activity  estrogen receptor binding  Leydig cell differentiation  identical protein binding  poly(A) RNA binding  3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity  NAD binding  protein homotetramerization  oxidation-reduction process  mitochondrial tRNA methylation  mitochondrial tRNA processing  
Ontology : EGO-EBIbeta-amyloid binding  3-hydroxyacyl-CoA dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  steroid binding  protein binding  cytoplasm  mitochondrion  mitochondrial matrix  plasma membrane  lipid metabolic process  cell aging  cholate 7-alpha-dehydrogenase activity  branched-chain amino acid catabolic process  acetoacetyl-CoA reductase activity  testosterone dehydrogenase [NAD(P)] activity  estrogen receptor binding  Leydig cell differentiation  identical protein binding  poly(A) RNA binding  3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity  NAD binding  protein homotetramerization  oxidation-reduction process  mitochondrial tRNA methylation  mitochondrial tRNA processing  
Pathways : KEGGValine, leucine and isoleucine degradation    Alzheimer's disease   
NDEx NetworkHSD17B10
Atlas of Cancer Signalling NetworkHSD17B10
Wikipedia pathwaysHSD17B10
Orthology - Evolution
OrthoDB3028
GeneTree (enSembl)ENSG00000072506
Phylogenetic Trees/Animal Genes : TreeFamHSD17B10
HOVERGENQ99714
HOGENOMQ99714
Homologs : HomoloGeneHSD17B10
Homology/Alignments : Family Browser (UCSC)HSD17B10
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B10 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B10
dbVarHSD17B10
ClinVarHSD17B10
1000_GenomesHSD17B10 
Exome Variant ServerHSD17B10
ExAC (Exome Aggregation Consortium)HSD17B10 (select the gene name)
Genetic variants : HAPMAP3028
Genomic Variants (DGV)HSD17B10 [DGVbeta]
DECIPHER (Syndromes)X:53458206-53461323  ENSG00000072506
CONAN: Copy Number AnalysisHSD17B10 
Mutations
ICGC Data PortalHSD17B10 
TCGA Data PortalHSD17B10 
Broad Tumor PortalHSD17B10
OASIS PortalHSD17B10 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B10  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B10
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HSD17B10
DgiDB (Drug Gene Interaction Database)HSD17B10
DoCM (Curated mutations)HSD17B10 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B10 (select a term)
intoGenHSD17B10
Cancer3DHSD17B10(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300220    300256    300438   
Orphanet22622    22623    11685   
MedgenHSD17B10
Genetic Testing Registry HSD17B10
NextProtQ99714 [Medical]
TSGene3028
GENETestsHSD17B10
Huge Navigator HSD17B10 [HugePedia]
snp3D : Map Gene to Disease3028
BioCentury BCIQHSD17B10
ClinGenHSD17B10 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3028
Chemical/Pharm GKB GenePA162391638
Clinical trialHSD17B10
Miscellaneous
canSAR (ICR)HSD17B10 (select the gene name)
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B10
EVEXHSD17B10
GoPubMedHSD17B10
iHOPHSD17B10
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:09:49 CET 2017

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