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DHCR7 (7-dehydrocholesterol reductase)

Identity

Alias (NCBI)SLOS
HGNC (Hugo) DHCR7
HGNC Previous nameSLOS
HGNC Previous nameSmith-Lemli-Opitz syndrome
LocusID (NCBI) 1717
Atlas_Id 53560
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 71434411 and ends at 71448393 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)
CADPS2 (7q31.32) / DHCR7 (11q13.4)DENND4B (1q21.3) / DHCR7 (11q13.4)DHCR7 (11q13.4) / AP000867.1 ()
DHCR7 (11q13.4) / DHCR7 (11q13.4)CADPS2 7q31.32 / DHCR7 11q13.4DHCR7 11q13.4 AP000867.1

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)DHCR7   2860
LRG (Locus Reference Genomic)LRG_340
Cards
Entrez_Gene (NCBI)DHCR7    7-dehydrocholesterol reductase
AliasesSLOS
GeneCards (Weizmann)DHCR7
Ensembl hg19 (Hinxton)ENSG00000172893 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172893 [Gene_View]  ENSG00000172893 [Sequence]  chr11:71434411-71448393 [Contig_View]  DHCR7 [Vega]
ICGC DataPortalENSG00000172893
TCGA cBioPortalDHCR7
AceView (NCBI)DHCR7
Genatlas (Paris)DHCR7
SOURCE (Princeton)DHCR7
Genetics Home Reference (NIH)DHCR7
Genomic and cartography
GoldenPath hg38 (UCSC)DHCR7  -     chr11:71434411-71448393 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHCR7  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathDHCR7 - 11q13.4 [CytoView hg19]  DHCR7 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000172893
Genome Data Viewer NCBIDHCR7 [Mapview hg19]  
OMIM270400   602858   
Gene and transcription
Genbank (Entrez)AF034544 AF062481 AF067127 AF096305 AI888720
RefSeq transcript (Entrez)NM_001163817 NM_001360
Consensus coding sequences : CCDS (NCBI)DHCR7
Gene ExpressionDHCR7 [ NCBI-GEO ]   DHCR7 [ EBI - ARRAY_EXPRESS ]   DHCR7 [ SEEK ]   DHCR7 [ MEM ]
Gene Expression Viewer (FireBrowse)DHCR7 [ Firebrowse - Broad ]
GenevisibleExpression of DHCR7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1717
GTEX Portal (Tissue expression)DHCR7
Human Protein AtlasENSG00000172893-DHCR7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBM7
PhosPhoSitePlusQ9UBM7
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24    Sterol_reductase_CS   
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)   
Domain families : Pfam (NCBI)pfam01222   
Conserved Domain (NCBI)DHCR7
SuperfamilyQ9UBM7
AlphaFold pdb e-kbQ9UBM7   
Human Protein Atlas [tissue]ENSG00000172893-DHCR7 [tissue]
HPRD04174
Protein Interaction databases
DIP (DOE-UCLA)Q9UBM7
IntAct (EBI)Q9UBM7
BioGRIDDHCR7
STRING (EMBL)DHCR7
ZODIACDHCR7
Ontologies - Pathways
QuickGOQ9UBM7
Ontology : AmiGOprotein binding  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  sterol delta7 reductase activity  membrane  sterol biosynthetic process  brassinosteroid biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  regulation of cholesterol biosynthetic process  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  NADP binding  
Ontology : EGO-EBIprotein binding  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  sterol delta7 reductase activity  membrane  sterol biosynthetic process  brassinosteroid biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  regulation of cholesterol biosynthetic process  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  7-dehydrocholesterol reductase activity  NADP binding  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkDHCR7
Atlas of Cancer Signalling NetworkDHCR7
Wikipedia pathwaysDHCR7
Orthology - Evolution
OrthoDB1717
GeneTree (enSembl)ENSG00000172893
Phylogenetic Trees/Animal Genes : TreeFamDHCR7
Homologs : HomoloGeneDHCR7
Homology/Alignments : Family Browser (UCSC)DHCR7
Gene fusions - Rearrangements
Fusion : MitelmanCADPS2/DHCR7 [7q31.32/11q13.4]  
Fusion : QuiverDHCR7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHCR7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHCR7
dbVarDHCR7
ClinVarDHCR7
MonarchDHCR7
1000_GenomesDHCR7 
Exome Variant ServerDHCR7
GNOMAD BrowserENSG00000172893
Varsome BrowserDHCR7
ACMGDHCR7 variants
VarityQ9UBM7
Genomic Variants (DGV)DHCR7 [DGVbeta]
DECIPHERDHCR7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHCR7 
Mutations
ICGC Data PortalDHCR7 
TCGA Data PortalDHCR7 
Broad Tumor PortalDHCR7
OASIS PortalDHCR7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHCR7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDHCR7
Mutations and Diseases : HGMDDHCR7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDHCR7
DgiDB (Drug Gene Interaction Database)DHCR7
DoCM (Curated mutations)DHCR7
CIViC (Clinical Interpretations of Variants in Cancer)DHCR7
Cancer3DDHCR7
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM270400    602858   
Orphanet3574   
DisGeNETDHCR7
MedgenDHCR7
Genetic Testing Registry DHCR7
NextProtQ9UBM7 [Medical]
GENETestsDHCR7
Target ValidationDHCR7
Huge Navigator DHCR7 [HugePedia]
ClinGenDHCR7 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeDHCR7
Protein Interactions : CTDDHCR7
Pharm GKB GenePA27321
PharosQ9UBM7
Clinical trialDHCR7
Miscellaneous
canSAR (ICR)DHCR7
HarmonizomeDHCR7
DataMed IndexDHCR7
Probes
Litterature
PubMed150 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDHCR7
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 15:06:38 CEST 2021

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