| CNPPD1 (2q35) / DHCR24 (1p32.3) | DHCR24 (1p32.3) / B4GALT5 (20q13.13) | DHCR24 (1p32.3) / DHCR24 (1p32.3) |
|
DHCR24 (1p32.3) / ERCC6L2 (9q22.32) | DHCR24 (1p32.3) / LRP11 (6q25.1) | DHCR24 (1p32.3) / PCNX2 (1q42.2) |
|
DHCR24 (1p32.3) / PRKCSH (19p13.2) | DHCR24 (1p32.3) / QSOX2 (9q34.3) | DHCR24 (1p32.3) / SIAE (11q24.2) |
|
DHCR24 (1p32.3) / THBS1 (15q14) | FAM105A (5p15.2) / DHCR24 (1p32.3) | GAS5 (1q25.1) / DHCR24 (1p32.3) |
|
LOC100507412 (-) / DHCR24 (1p32.3) | USP22 (17p11.2) / DHCR24 (1p32.3) | ZNF276 (16q24.3) / DHCR24 (1p32.3) |
|
DHCR24 1p32.3 C9orf102 | DHCR24 1p32.3 / LRP11 6q25.1 | DHCR24 1p32.3 / PCNXL2 1q42.2 |
|
DHCR24 1p32.3 / PRKCSH 19p13.2 | DHCR24 1p32.3 / SIAE 11q24.2 | DHCR24 1p32.3 / THBS1 15q14 |
|
| Nomenclature |
HGNC (Hugo) | DHCR24 2859 |
| Cards |
Entrez_Gene (NCBI) | DHCR24 1718 24-dehydrocholesterol reductase |
Aliases | DCE; Nbla03646; SELADIN1; seladin-1 |
GeneCards (Weizmann) | DHCR24 |
Ensembl hg19 (Hinxton) | ENSG00000116133 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000116133 [Gene_View]  ENSG00000116133 [Sequence] chr1:54849627-54887248 [Contig_View] DHCR24 [Vega] |
ICGC DataPortal | ENSG00000116133 |
TCGA cBioPortal | DHCR24 |
AceView (NCBI) | DHCR24 |
Genatlas (Paris) | DHCR24 |
WikiGenes | 1718 |
SOURCE (Princeton) | DHCR24 |
Genetics Home Reference (NIH) | DHCR24 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | DHCR24 - chr1:54849627-54887248 - 1p32.3 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | DHCR24 - 1p32.3 [Description] (hg19-Feb_2009) |
GoldenPath | DHCR24 - 1p32.3 [CytoView hg19] DHCR24 - 1p32.3 [CytoView hg38] |
ImmunoBase | ENSG00000116133 |
Mapping of homologs : NCBI | DHCR24 [Mapview hg19] DHCR24 [Mapview hg38] |
OMIM | 602398 606418 |
| Gene and transcription |
Genbank (Entrez) | AB073391 AF261758 AI952034 AK298414 AK302774 |
RefSeq transcript (Entrez) | NM_014762 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | DHCR24 |
Cluster EST : Unigene | Hs.498727 [ NCBI ] |
CGAP (NCI) | Hs.498727 |
Alternative Splicing Gallery | ENSG00000116133 |
Gene Expression | DHCR24 [ NCBI-GEO ] DHCR24 [ EBI - ARRAY_EXPRESS ]
DHCR24 [ SEEK ] DHCR24 [ MEM ] |
Gene Expression Viewer (FireBrowse) | DHCR24 [ Firebrowse - Broad ] |
SOURCE (Princeton) | Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60] |
Genevestigator | Expression in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 1718 |
GTEX Portal (Tissue expression) | DHCR24 |
Human Protein Atlas | ENSG00000116133-DHCR24 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | Q15392 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | Q15392 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | Q15392 |
Splice isoforms : SwissVar | Q15392 |
Catalytic activity : Enzyme | 1.3.1.72 [ Enzyme-Expasy ] 1.3.1.721.3.1.72 [ IntEnz-EBI ] 1.3.1.72 [ BRENDA ] 1.3.1.72 [ KEGG ] |
PhosPhoSitePlus | Q15392 |
Domaine pattern : Prosite (Expaxy) | FAD_PCMH (PS51387) |
Domains : Interpro (EBI) | FAD-bd_2 FAD-bd_2-like_sf Oxid_FAD_bind_N |
Domain families : Pfam (Sanger) | FAD_binding_4 (PF01565) |
Domain families : Pfam (NCBI) | pfam01565 |
Conserved Domain (NCBI) | DHCR24 |
DMDM Disease mutations | 1718 |
Blocks (Seattle) | DHCR24 |
Superfamily | Q15392 |
Human Protein Atlas [tissue] | ENSG00000116133-DHCR24 [tissue] |
Peptide Atlas | Q15392 |
HPRD | 05916 |
IPI | IPI00016703 IPI01008932 IPI00922718 IPI00922928 |
| Protein Interaction databases |
DIP (DOE-UCLA) | Q15392 |
IntAct (EBI) | Q15392 |
FunCoup | ENSG00000116133 |
BioGRID | DHCR24 |
STRING (EMBL) | DHCR24 |
ZODIAC | DHCR24 |
| Ontologies - Pathways |
QuickGO | Q15392 |
Ontology : AmiGO | Golgi membrane delta24(24-1) sterol reductase activity delta24(24-1) sterol reductase activity protein binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane cytosol cytoskeleton cholesterol biosynthetic process cholesterol biosynthetic process apoptotic process response to oxidative stress cell cycle arrest Ras protein signal transduction protein localization steroid metabolic process negative regulation of cell proliferation response to hormone tissue development membrane membrane integral component of membrane oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor enzyme binding male genitalia development plasminogen activation cholesterol biosynthetic process via desmosterol cholesterol biosynthetic process via lathosterol peptide antigen binding amyloid precursor protein catabolic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process skin development delta24-sterol reductase activity oxidation-reduction process membrane organization FAD binding regulation of neuron death |
Ontology : EGO-EBI | Golgi membrane delta24(24-1) sterol reductase activity delta24(24-1) sterol reductase activity protein binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane cytosol cytoskeleton cholesterol biosynthetic process cholesterol biosynthetic process apoptotic process response to oxidative stress cell cycle arrest Ras protein signal transduction protein localization steroid metabolic process negative regulation of cell proliferation response to hormone tissue development membrane membrane integral component of membrane oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor enzyme binding male genitalia development plasminogen activation cholesterol biosynthetic process via desmosterol cholesterol biosynthetic process via lathosterol peptide antigen binding amyloid precursor protein catabolic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process skin development delta24-sterol reductase activity oxidation-reduction process membrane organization FAD binding regulation of neuron death |
Pathways : KEGG | Steroid biosynthesis |
NDEx Network | DHCR24 |
Atlas of Cancer Signalling Network | DHCR24 |
Wikipedia pathways | DHCR24 |
| Orthology - Evolution |
OrthoDB | 1718 |
GeneTree (enSembl) | ENSG00000116133 |
Phylogenetic Trees/Animal Genes : TreeFam | DHCR24 |
HOGENOM | Q15392 |
Homologs : HomoloGene | DHCR24 |
Homology/Alignments : Family Browser (UCSC) | DHCR24 |
| Gene fusions - Rearrangements |
Fusion : Mitelman | DHCR24/ERCC6L2 [1p32.3/9q22.32]   |
Fusion : Mitelman | DHCR24/LRP11 [1p32.3/6q25.1]  [t(1;6)(p32;q25)] |
Fusion : Mitelman | DHCR24/PCNXL2 [1p32.3/1q42.2]  [t(1;1)(p32;q42)] |
Fusion : Mitelman | DHCR24/PRKCSH [1p32.3/19p13.2]  [t(1;19)(p32;p13)] |
Fusion : Mitelman | DHCR24/SIAE [1p32.3/11q24.2]  [t(1;11)(p32;q24)] |
Fusion : Mitelman | DHCR24/THBS1 [1p32.3/15q14]  [t(1;15)(p32;q14)] |
Fusion Portal | DHCR24 1p32.3 C9orf102 PRAD |
Fusion Portal | DHCR24 1p32.3 LRP11 6q25.1 PRAD |
Fusion Portal | DHCR24 1p32.3 PCNXL2 1q42.2 HNSC |
Fusion Portal | DHCR24 1p32.3 PRKCSH 19p13.2 PRAD |
Fusion Portal | DHCR24 1p32.3 SIAE 11q24.2 LUAD |
Fusion Portal | DHCR24 1p32.3 THBS1 15q14 HNSC |
Fusion : Quiver | DHCR24 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | DHCR24 [hg38] |
dbSNP Single Nucleotide Polymorphism (NCBI) | DHCR24 |
dbVar | DHCR24 |
ClinVar | DHCR24 |
1000_Genomes | DHCR24 |
Exome Variant Server | DHCR24 |
ExAC (Exome Aggregation Consortium) | ENSG00000116133 |
GNOMAD Browser | ENSG00000116133 |
Varsome Browser | DHCR24 |
Genetic variants : HAPMAP | 1718 |
Genomic Variants (DGV) | DHCR24 [DGVbeta] |
DECIPHER | DHCR24 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | DHCR24 |
| Mutations |
ICGC Data Portal | DHCR24 |
TCGA Data Portal | DHCR24 |
Broad Tumor Portal | DHCR24 |
OASIS Portal | DHCR24 [ Somatic mutations - Copy number] |
Somatic Mutations in Cancer : COSMIC | DHCR24 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | DHCR24 |
Mutations and Diseases : HGMD | DHCR24 |
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 |
BioMuta | search DHCR24 |
DgiDB (Drug Gene Interaction Database) | DHCR24 |
DoCM (Curated mutations) | DHCR24 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | DHCR24 (select a term) |
intoGen | DHCR24 |
Cancer3D | DHCR24(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
---|
OMIM | 602398 606418 |
Orphanet | 10370 |
DisGeNET | DHCR24 |
Medgen | DHCR24 |
Genetic Testing Registry | DHCR24
|
NextProt | Q15392 [Medical] |
TSGene | 1718 |
GENETests | DHCR24 |
Target Validation | DHCR24 |
Huge Navigator |
DHCR24 [HugePedia] |
snp3D : Map Gene to Disease | 1718 |
BioCentury BCIQ | DHCR24 |
ClinGen | DHCR24 |
| Clinical trials, drugs, therapy |
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Chemical/Protein Interactions : CTD | 1718 |
Chemical/Pharm GKB Gene | PA27320 |
Clinical trial | DHCR24 |
| Miscellaneous |
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canSAR (ICR) | DHCR24 (select the gene name) |
DataMed Index | DHCR24 |
| Probes |
---|
| Litterature |
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PubMed | 74 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
CoreMine | DHCR24 |
EVEX | DHCR24 |
GoPubMed | DHCR24 |
iHOP | DHCR24 |