Gene Gene information from NCBI Gene database.
Entrez ID 36
Gene name Acyl-CoA dehydrogenase short/branched chain
Gene symbol ACADSB
Synonyms (NCBI Gene)
2-MEBCADACAD7SBCAD
Chromosome 10
Chromosome location 10q26.13
Summary Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs58639322 C>T Pathogenic-likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs137852649 C>T Pathogenic Missense variant, coding sequence variant
rs142095937 C>G Likely-pathogenic Stop gained, coding sequence variant
rs147936696 G>A Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic Splice donor variant, intron variant
rs188094280 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
787
miRTarBase ID miRNA Experiments Reference
MIRT021463 hsa-miR-9-5p Microarray 17612493
MIRT024452 hsa-miR-215-5p Microarray 19074876
MIRT026949 hsa-miR-192-5p Microarray 19074876
MIRT030240 hsa-miR-26b-5p Microarray 19088304
MIRT722785 hsa-miR-532-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003853 Function Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IDA 7698750, 11013134
GO:0003853 Function Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IEA
GO:0003995 Function Acyl-CoA dehydrogenase activity IBA
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600301 91 ENSG00000196177
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P45954
Protein name Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (SBCAD) (EC 1.3.8.5) (2-methyl branched chain acyl-CoA dehydrogenase) (2-MEBCAD) (2-methylbutyryl-coenzyme A dehydrogenase) (2-methylbutyryl-CoA dehydrogenase)
Protein function Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:10832746, PubMed:11013134, PubMed:21430
PDB 2JIF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 58 170 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 173 268 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 280 428 Acyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8660691}.
Sequence
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid degradation
Valine, leucine and isoleucine degradation
Metabolic pathways
Fatty acid metabolism
  Branched-chain amino acid catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
ACADSB-related disorder Likely pathogenic; Pathogenic rs761798774, rs2493665132, rs1345480688 RCV003405995
RCV003420741
RCV003419901
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of 2-methylbutyryl-CoA dehydrogenase Likely pathogenic; Pathogenic rs779015128, rs943046481, rs1564754571, rs1228768873, rs770456976, rs2133484638, rs749878139, rs387906409, rs137852649, rs188094280, rs760791287, rs2493665132, rs2493660060, rs2493648846, rs1443718162
View all (10 more)
RCV003984356
RCV001334937
RCV001378029
RCV001379688
RCV002000527
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma Likely pathogenic; Pathogenic rs188094280 RCV005887407
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma Likely pathogenic; Pathogenic rs188094280 RCV005887406
★★★★☆
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
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
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
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency UNIPROT_DG 10832746, 16317551
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency CLINGEN_DG 11013134, 12837870, 16317551, 17883863, 17945527, 20547083
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency CLINVAR_DG 15615815, 17945527, 20547083
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency ORPHANET_DG 20547083
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyryl-CoA dehydrogenase deficiency Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency GENOMICS_ENGLAND_DG 27604308
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2-methylbutyryl-CoA dehydrogenase deficiency CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency BEFREE 25111118
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 38287090 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 17883863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations