Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
36
Gene name Gene Name - the full gene name approved by the HGNC.
Acyl-CoA dehydrogenase short/branched chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACADSB
Synonyms (NCBI Gene) Gene synonyms aliases
2-MEBCAD, ACAD7, SBCAD
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003853 Function 2-methylacyl-CoA dehydrogenase activity IDA 7698750, 11013134
GO:0005739 Component Mitochondrion IDA 11013134
GO:0005759 Component Mitochondrial matrix TAS
GO:0006550 Process Isoleucine catabolic process IEA
GO:0006550 Process Isoleucine catabolic process IMP 11013134
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600301 91 ENSG00000196177
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
2-methylbutyryl-coa dehydrogenase deficiency 2-Methylbutyryl-CoA Dehydrogenase Deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency rs387906409, rs137852649, rs188094280, rs760791287, rs374420253, rs1345480688, rs553730391, rs756587384, rs201877440, rs755014798, rs1850655600 20547083, 16317551, 27604308, 15615815, 17945527, 12837870, 10832746, 17883863, 11013134
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
17883863
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Lewy Body Disease Lewy Body Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
2 Methylbutyryl CoA Dehydrogenase Deficiency Associate 20547083, 23712021
Acidosis Associate 34240183
Autism Spectrum Disorder Associate 38287090
Carcinoma Hepatocellular Associate 30176945
Carcinoma Non Small Cell Lung Associate 37527640
Carcinoma Renal Cell Associate 30793530, 37460577
Encephalitis Herpes Simplex Associate 20547083
Liver Neoplasms Associate 30176945