Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HSDL2 (hydroxysteroid dehydrogenase like 2)

Identity

Alias (NCBI)C9orf99
SDR13C1
HGNC (Hugo) HSDL2
HGNC Alias symbSDR13C1
HGNC Alias nameshort chain dehydrogenase/reductase family 13C, member 1
HGNC Previous nameC9orf99
HGNC Previous namechromosome 9 open reading frame 99
LocusID (NCBI) 84263
Atlas_Id 56780
Location 9q32  [Link to chromosome band 9q32]
Location_base_pair Starts at 112380108 and ends at 112472405 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)
HSDL2 (9q32) / FRMD3 (9q21.32)KIAA1958 (9q32) / HSDL2 (9q32)PAN3 (13q12.2) / HSDL2 (9q32)
USP34 (2p15) / HSDL2 (9q32)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;9)(q21;q32) HSDL2/FRMD3

External links

Nomenclature
HGNC (Hugo)HSDL2   18572
Cards
Entrez_Gene (NCBI)HSDL2  84263  hydroxysteroid dehydrogenase like 2
AliasesC9orf99; SDR13C1
GeneCards (Weizmann)HSDL2
Ensembl hg19 (Hinxton)ENSG00000119471 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119471 [Gene_View]  ENSG00000119471 [Sequence]  chr9:112380108-112472405 [Contig_View]  HSDL2 [Vega]
ICGC DataPortalENSG00000119471
TCGA cBioPortalHSDL2
AceView (NCBI)HSDL2
Genatlas (Paris)HSDL2
WikiGenes84263
SOURCE (Princeton)HSDL2
Genetics Home Reference (NIH)HSDL2
Genomic and cartography
GoldenPath hg38 (UCSC)HSDL2  -     chr9:112380108-112472405 +  9q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSDL2  -     9q32   [Description]    (hg19-Feb_2009)
GoldenPathHSDL2 - 9q32 [CytoView hg19]  HSDL2 - 9q32 [CytoView hg38]
ImmunoBaseENSG00000119471
genome Data Viewer NCBIHSDL2 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK090940 AK098721 AK225946 AK289929 AK292486
RefSeq transcript (Entrez)NM_001195822 NM_032303
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSDL2
Alternative Splicing GalleryENSG00000119471
Gene ExpressionHSDL2 [ NCBI-GEO ]   HSDL2 [ EBI - ARRAY_EXPRESS ]   HSDL2 [ SEEK ]   HSDL2 [ MEM ]
Gene Expression Viewer (FireBrowse)HSDL2 [ Firebrowse - Broad ]
GenevisibleExpression of HSDL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84263
GTEX Portal (Tissue expression)HSDL2
Human Protein AtlasENSG00000119471-HSDL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6YN16   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6YN16  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6YN16
Splice isoforms : SwissVarQ6YN16
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ6YN16
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)NAD(P)-bd_dom_sf    Sc_DH/Rdtase_CS    SCP2_sterol-bd_dom    SCP2_sterol-bd_dom_sf    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)    SCP2 (PF02036)   
Domain families : Pfam (NCBI)pfam00106    pfam02036   
Conserved Domain (NCBI)HSDL2
DMDM Disease mutations84263
Blocks (Seattle)HSDL2
PDB (RSDB)3KVO   
PDB Europe3KVO   
PDB (PDBSum)3KVO   
PDB (IMB)3KVO   
Structural Biology KnowledgeBase3KVO   
SCOP (Structural Classification of Proteins)3KVO   
CATH (Classification of proteins structures)3KVO   
SuperfamilyQ6YN16
Human Protein Atlas [tissue]ENSG00000119471-HSDL2 [tissue]
Peptide AtlasQ6YN16
IPIIPI00414384   IPI00031107   IPI01013700   
Protein Interaction databases
DIP (DOE-UCLA)Q6YN16
IntAct (EBI)Q6YN16
FunCoupENSG00000119471
BioGRIDHSDL2
STRING (EMBL)HSDL2
ZODIACHSDL2
Ontologies - Pathways
QuickGOQ6YN16
Ontology : AmiGOmolecular_function  mitochondrion  mitochondrion  peroxisome  biological_process  membrane  oxidoreductase activity  oxidation-reduction process  
Ontology : EGO-EBImolecular_function  mitochondrion  mitochondrion  peroxisome  biological_process  membrane  oxidoreductase activity  oxidation-reduction process  
NDEx NetworkHSDL2
Atlas of Cancer Signalling NetworkHSDL2
Wikipedia pathwaysHSDL2
Orthology - Evolution
OrthoDB84263
GeneTree (enSembl)ENSG00000119471
Phylogenetic Trees/Animal Genes : TreeFamHSDL2
HOGENOMQ6YN16
Homologs : HomoloGeneHSDL2
Homology/Alignments : Family Browser (UCSC)HSDL2
Gene fusions - Rearrangements
Fusion : QuiverHSDL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSDL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSDL2
dbVarHSDL2
ClinVarHSDL2
MonarchHSDL2
1000_GenomesHSDL2 
Exome Variant ServerHSDL2
GNOMAD BrowserENSG00000119471
Varsome BrowserHSDL2
Genetic variants : HAPMAP84263
Genomic Variants (DGV)HSDL2 [DGVbeta]
DECIPHERHSDL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSDL2 
Mutations
ICGC Data PortalHSDL2 
TCGA Data PortalHSDL2 
Broad Tumor PortalHSDL2
OASIS PortalHSDL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSDL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHSDL2
Mutations and Diseases : HGMDHSDL2
BioMutasearch HSDL2
DgiDB (Drug Gene Interaction Database)HSDL2
DoCM (Curated mutations)HSDL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSDL2 (select a term)
intoGenHSDL2
Cancer3DHSDL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHSDL2
MedgenHSDL2
Genetic Testing Registry HSDL2
NextProtQ6YN16 [Medical]
TSGene84263
GENETestsHSDL2
Target ValidationHSDL2
Huge Navigator HSDL2 [HugePedia]
snp3D : Map Gene to Disease84263
BioCentury BCIQHSDL2
ClinGenHSDL2
Clinical trials, drugs, therapy
Protein Interactions : CTD84263
Pharm GKB GenePA134980105
Clinical trialHSDL2
Miscellaneous
canSAR (ICR)HSDL2 (select the gene name)
HarmonizomeHSDL2
DataMed IndexHSDL2
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSDL2
EVEXHSDL2
GoPubMedHSDL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:14:59 CEST 2020
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