Gene Gene information from NCBI Gene database.
Entrez ID 35
Gene name Acyl-CoA dehydrogenase short chain
Gene symbol ACADS
Synonyms (NCBI Gene)
ACAD3SCAD
Chromosome 12
Chromosome location 12q24.31
Summary This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated w
SNPs SNP information provided by dbSNP.
56
SNP ID Visualize variation Clinical significance Consequence
rs1800556 C>T Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, intron variant, missense variant
rs28940872 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs28940875 C>G,T Pathogenic Missense variant, coding sequence variant
rs28941773 C>T Likely-pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs57443665 T>C,G Pathogenic-likely-pathogenic, pathogenic Missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
51
miRTarBase ID miRNA Experiments Reference
MIRT029099 hsa-miR-26b-5p Microarray 19088304
MIRT049063 hsa-miR-92a-3p CLASH 23622248
MIRT041697 hsa-miR-484 CLASH 23622248
MIRT735703 hsa-miR-125b-5p Luciferase reporter assayWestern blottingqRT-PCR 31912457
MIRT761470 hsa-miR-149 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0003995 Function Acyl-CoA dehydrogenase activity IDA 3597357
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0003995 Function Acyl-CoA dehydrogenase activity IMP 11134486
GO:0003995 Function Acyl-CoA dehydrogenase activity ISS
GO:0003995 Function Acyl-CoA dehydrogenase activity TAS 2565344
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606885 90 ENSG00000122971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16219
Protein name Short-chain specific acyl-CoA dehydrogenase, mitochondrial (SCAD) (EC 1.3.8.1) (Butyryl-CoA dehydrogenase)
Protein function Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production o
PDB 2VIG , 7Y0A , 7Y0B , 8SGS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 35 147 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 151 246 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 258 407 Acyl-CoA dehydrogenase, C-terminal domain Domain
Sequence
Sequence length 412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid degradation
Valine, leucine and isoleucine degradation
beta-Alanine metabolism
Propanoate metabolism
Butanoate metabolism
Metabolic pathways
Carbon metabolism
Fatty acid metabolism
  Beta oxidation of hexanoyl-CoA to butanoyl-CoA
Beta oxidation of butanoyl-CoA to acetyl-CoA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
ACADS-related disorder Pathogenic; Likely pathogenic rs786204691, rs121908003, rs57443665, rs796051906, rs951773023, rs2501156065, rs1318266542, rs387906950, rs766579880 RCV003965221
RCV003398440
RCV004748494
RCV003422082
RCV003399658
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma Likely pathogenic; Pathogenic rs140853839 RCV005892134
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of butyryl-CoA dehydrogenase Pathogenic; Likely pathogenic rs2136950036, rs752978753, rs770646738, rs1233243754, rs368064268, rs1433582057, rs2501191093, rs2501196429, rs2501155182, rs2501155651, rs2501198105, rs2501198442, rs2501193882, rs2501187551, rs2501194385
View all (59 more)
RCV001369605
RCV002032611
RCV001921019
RCV002008574
RCV002037044
View all (70 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast Likely pathogenic; Pathogenic rs140853839 RCV005892133
★★★★☆
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet, GWAS catalog
Disgenet, 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
Acute Coronary Syndrome Coronary Syndrome BEFREE 28545849
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder PSYGENET_DG 24554194
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35196258, 35286894 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASCAT_DG 29545352
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31949199, 36552870 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34790035 Inhibit
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 30551588
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congestive heart failure Congestive Heart Failure CTD_human_DG 30827304
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 29434090
★☆☆☆☆
Found in Text Mining only