Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1718
Gene name Gene Name - the full gene name approved by the HGNC.
24-dehydrocholesterol reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHCR24
Synonyms (NCBI Gene) Gene synonyms aliases
DCE, Nbla03646, SELADIN1, seladin-1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
SP1 Activation 22431021
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000246 Function Delta24(24-1) sterol reductase activity IBA 21873635
GO:0000246 Function Delta24(24-1) sterol reductase activity IMP 11519011
GO:0005515 Function Protein binding IPI 25637936
GO:0005634 Component Nucleus IDA 15577914
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606418 2859 ENSG00000116133
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23042211
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
24781735
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia, Ambiguous genitalia, female ClinVar
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Lung Injury Inhibit 34949154
Adenocarcinoma Associate 37004157
Adenocarcinoma in Situ Associate 37004157
Adenocarcinoma of Lung Associate 37004157
Adrenal Gland Neoplasms Associate 20465827
Agenesis of Corpus Callosum Associate 24961299
Alzheimer Disease Associate 18194465
Alzheimer Disease Inhibit 19815556, 25107315
Aortic Dissection Associate 36819785
Breast Neoplasms Stimulate 32713162