SC5D (sterol-C5-desaturase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6309
Gene name Gene Name - the full gene name approved by the HGNC.
Sterol-C5-desaturase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SC5D
Synonyms (NCBI Gene) Gene synonyms aliases
ERG3, S5DES, SC5DL
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3-q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants enc
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104894295 G>A Pathogenic Missense variant, coding sequence variant
rs104894296 G>A Pathogenic Missense variant, coding sequence variant
rs104894297 A>C,G Pathogenic Missense variant, coding sequence variant
rs1313359281 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(198)
miRTarBase ID miRNA Experiments Reference
MIRT018994 hsa-miR-335-5p Microarray 18185580
MIRT023105 hsa-miR-124-3p Microarray 18668037
MIRT052122 hsa-let-7b-5p CLASH 23622248
MIRT038773 hsa-miR-93-3p CLASH 23622248
MIRT637867 hsa-miR-508-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000248 Function C-5 sterol desaturase activity EXP 12189593, 12812989
GO:0000248 Function C-5 sterol desaturase activity IBA 21873635
GO:0005506 Function Iron ion binding IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602286 10547 ENSG00000109929
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75845
Protein name Lathosterol oxidase (EC 1.14.19.20) (C-5 sterol desaturase) (Delta(7)-sterol 5-desaturase) (Delta(7)-sterol C5(6)-desaturase) (Lathosterol 5-desaturase) (Sterol-C5-desaturase)
Protein function Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid h
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04116 FA_hydroxylase 123 → 253 Fatty acid hydroxylase superfamily Family
Sequence 
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
Sequence length 299
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Steroid biosynthesis
Metabolic pathways 		  Activation of gene expression by SREBF (SREBP)
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)		 30097991
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 12189593, 30097991
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Specific learning disorder Specific learning disability ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 37491786
Intellectual Disability Associate 12189593
Lathosterolosis Associate 12189593