Gene Gene information from NCBI Gene database.
Entrez ID 79966
Gene name Stearoyl-CoA desaturase 5
Gene symbol SCD5
Synonyms (NCBI Gene)
ACOD4DFNA79FADS4HSCD5SCD2SCD4
Chromosome 4
Chromosome location 4q21.22
Summary Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in
miRNA miRNA information provided by mirtarbase database.
1012
miRTarBase ID miRNA Experiments Reference
MIRT021675 hsa-miR-140-3p Sequencing 20371350
MIRT049021 hsa-miR-92a-3p CLASH 23622248
MIRT047892 hsa-miR-30c-5p CLASH 23622248
MIRT043059 hsa-miR-324-5p CLASH 23622248
MIRT718597 hsa-miR-141-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
EGR2 Repression 22510410
SREBF1 Activation 22510410
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IBA
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IDA 15907797, 22745828
GO:0004768 Function Stearoyl-CoA 9-desaturase activity IEA
GO:0005506 Function Iron ion binding IBA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608370 21088 ENSG00000145284
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86SK9
Protein name Stearoyl-CoA desaturase 5 (EC 1.14.19.1) (Acyl-CoA-desaturase 4) (HSCD5) (Stearoyl-CoA 9-desaturase) (Stearoyl-CoA desaturase 2)
Protein function Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00487 FA_desaturase 72 291 Fatty acid desaturase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in fetal brain, and at lower levels in fetal kidney. Detected in adult brain and pancreas, and at lower levels in kidney and lung. Expressed in spiral ganglion cells and the organ of Corti of fetal cochlea (PubMed:31972369). {
Sequence
Sequence length 330
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Hearing loss, autosomal dominant 79 Pathogenic rs192654796 RCV001264778
★★★★☆
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
DEAFNESS, AUTOSOMAL DOMINANT 79 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
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
Age related macular degeneration Age-related macular degeneration BEFREE 29618664
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 23292041, 29166365
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23700441
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24816316 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29849946
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26061164 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33903614, 37122728 Inhibit
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Bronchiectasis Pubtator 40536885 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31140607, 33221754, 37689589 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 34871464 Associate
★☆☆☆☆
Found in Text Mining only