Gene Gene information from NCBI Gene database.
Entrez ID 1718
Gene name 24-dehydrocholesterol reductase
Gene symbol DHCR24
Synonyms (NCBI Gene)
DCENbla03646SELADIN1seladin-1
Chromosome 1
Chromosome location 1p32.3
Summary This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs28939092 T>G Pathogenic Coding sequence variant, missense variant
rs119475041 C>G,T Likely-pathogenic Missense variant, coding sequence variant
rs200415528 C>G,T Likely-pathogenic Missense variant, coding sequence variant
rs281797256 C>G Pathogenic Missense variant, coding sequence variant
rs281797257 T>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1374
miRTarBase ID miRNA Experiments Reference
MIRT002577 hsa-miR-124-3p Microarray 15685193
MIRT018869 hsa-miR-335-5p Microarray 18185580
MIRT020936 hsa-miR-155-5p Proteomics 18668040
MIRT002577 hsa-miR-124-3p Microarray;Other 15685193
MIRT024774 hsa-miR-215-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 22431021
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000246 Function Delta24(24-1) sterol reductase activity IBA
GO:0000246 Function Delta24(24-1) sterol reductase activity IMP 11519011
GO:0005515 Function Protein binding IPI 25637936, 30021884, 35271311
GO:0005634 Component Nucleus IDA 15577914
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606418 2859 ENSG00000116133
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15392
Protein name Delta(24)-sterol reductase (EC 1.3.1.72) (24-dehydrocholesterol reductase) (3-beta-hydroxysterol Delta-24-reductase) (Diminuto/dwarf1 homolog) (Seladin-1)
Protein function Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01565 FAD_binding_4 71 203 FAD binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in corti
Sequence
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKL
SSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMD
ILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKY
GLFQHICTAYELVLADGSFVRCT
PSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKL
RFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVP
PKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQ
PGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREE
FWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
Sequence length 516
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways
  Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Desmosterolosis Likely pathogenic; Pathogenic rs1646962392, rs28939092, rs119475041, rs387906938, rs387906939 RCV001328790
RCV000004615
RCV000004617
RCV000023539
RCV000023540
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis Likely pathogenic; Pathogenic rs1010033960 RCV001376049
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 23042211
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28060884, 31289003
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15001630
★☆☆☆☆
Found in Text Mining only
Adrenal Cancer Adrenal Cancer BEFREE 20465827
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 15001630, 15963070
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia LHGDN 15001630
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 20465827
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 20465827
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 24961299 Associate
★☆☆☆☆
Found in Text Mining only