• Gene id: 123876

Gene Summary

• Gene Symbol: ACSM2A   Gene   UCSC   Ensembl
• Aliases: A-923A4.1, ACSM2
• Gene name: acyl-CoA synthetase medium chain family member 2A
• Alternate names: acyl-coenzyme A synthetase ACSM2A, mitochondrial, acyl-CoA synthetase medium-chain family member 2, benzoate--CoA ligase, butyrate--CoA ligase 2A, butyryl-coenzyme A synthetase 2A, middle-chain acyl-CoA synthetase 2A,
• Gene location: 16p12.3 (20451503: 20487668)     Exons: 9     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 614358

Protein Summary

• Protein general information: Q08AH3  
  • 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)
  • Length: 577  
  • Mass: 64223
• Sequence:

  MHWLRKVQGLCTLWGTQMSSRTLYINSRQLVSLQWGHQEVPAKFNFASDVLDHWADMEKAGKRLPSPALWWVNGK
  GKELMWNFRELSENSQQAANVLSGACGLQRGDRVAVVLPRVPEWWLVILGCIRAGLIFMPGTIQMKSTDILYRLQ
  MSKAKAIVAGDEVIQEVDTVASECPSLRIKLLVSEKSCDGWLNFKKLLNEASTTHHCVETGSQEASAIYFTSGTS
  GLPKMAEHSYSSLGLKAKMDAGWTGLQASDIMWTISDTGWILNILCSLMEPWALGACTFVHLLPKFDPLVILKTL
  SSYPIKSMMGAPIVYRMLLQQDLSSYKFPHLQNCVTVGESLLPETLENWRAQTGLDIRESYGQTETGLTCMVSKT
  MKIKPGYMGTAASCYDVQIIDDKGNVLPPGTEGDIGIRVKPIRPIGIFSGYVDNPDKTAANIRGDFWLLGDRGIK
  DEDGYFQFMGRANDIINSSGYRIGPSEVENALMEHPAVVETAVISSPDPVRGEVVKAFVVLASQFLSHDPEQLTK
  ELQQHVKSVTAPYKYPRKIEFVLNLPKTVTGKIQRAKLRDKEWKMSGKARAQ

• Structural information:
  • Interpro: IPR025110  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • PDB: 2VZE 2WD9 3B7W 3C5E 3DAY 3EQ6 3GPC
  • PDBsum: 2VZE 2WD9 3B7W 3C5E 3DAY 3EQ6 3GPC
  • STRING: ENSP00000459451
• Other Databases: GeneCards:  ACSM2A  Malacards:  ACSM2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004321	fatty-acyl-CoA synthase activity	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0006637	acyl-CoA metabolic process	IBA	biological process
GO:0003996	acyl-CoA ligase activity	IBA	molecular function
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0015645	fatty acid ligase activity	IBA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0018858	benzoate-CoA ligase activity	ISS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0018858	benzoate-CoA ligase activity	IEA	molecular function
GO:0047760	butyrate-CoA ligase activity	IDA	molecular function
GO:0036112	medium-chain fatty-acyl-CoA metabolic process	IDA	biological process
GO:0042593	glucose homeostasis	NAS	biological process
GO:0070328	triglyceride homeostasis	NAS	biological process
GO:0005739	mitochondrion	NAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)