Gene Gene information from NCBI Gene database.
Entrez ID 123876
Gene name Acyl-CoA synthetase medium chain family member 2A
Gene symbol ACSM2A
Synonyms (NCBI Gene)
A-923A4.1ACSM2
Chromosome 16
Chromosome location 16p12.3
Summary This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also partici
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT040745 hsa-miR-18a-3p CLASH 23622248
MIRT607227 hsa-miR-216b-5p HITS-CLIP 23824327
MIRT607224 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT607223 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT607222 hsa-miR-3120-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004321 Function Fatty-acyl-CoA synthase activity IBA
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614358 32017 ENSG00000183747
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08AH3
Protein name Acyl-coenzyme A synthetase ACSM2A, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 2A) (Benzoate--CoA ligase) (EC 6.2.1.25) (Butyrate--CoA ligase 2A) (Butyryl-coenzyme A synthetase 2A) (Middle-chain acyl-CoA synthetase 2A)
Protein function Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-c
PDB 2VZE , 2WD9 , 3B7W , 3C5E , 3DAY , 3EQ6 , 3GPC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 58 469 AMP-binding enzyme Family
PF13193 AMP-binding_C 477 557 AMP-binding enzyme C-terminal domain Domain
Sequence
Sequence length 577
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Butanoate metabolism
Metabolic pathways
  Conjugation of salicylate with glycine
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign 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
Cardiovascular Diseases Cardiovascular disease Pubtator 31882500 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy BEFREE 30138846
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome X Metabolic Syndrome BEFREE 16521160
★☆☆☆☆
Found in Text Mining only