• Gene id: 80221

Gene Summary

• Gene Symbol: ACSF2   Gene   UCSC   Ensembl
• Aliases: ACSMW, AVYV493
• Gene name: acyl-CoA synthetase family member 2
• Alternate names: medium-chain acyl-CoA ligase ACSF2, mitochondrial, PPARG binding, long chain fatty acid acyl Co-A ligase like, acyl-CoA synthetase family member 2, mitochondrial,
• Gene location: 17q21.33 (50426157: 50474844)     Exons: 20     NC_000017.11
• OMIM: 611301

Protein Summary

• Protein general information: Q96CM8  
  • Name: Medium chain acyl CoA ligase ACSF2, mitochondrial (EC 6.2.1.2)
  • Length: 615  
  • Mass: 68125
• Sequence:

  MAVYVGMLRLGRLCAGSSGVLGARAALSRSWQEARLQGVRFLSSREVDRMVSTPIGGLSYVQGCTKKHLNSKTVG
  QCLETTAQRVPEREALVVLHEDVRLTFAQLKEEVDKAASGLLSIGLCKGDRLGMWGPNSYAWVLMQLATAQAGII
  LVSVNPAYQAMELEYVLKKVGCKALVFPKQFKTQQYYNVLKQICPEVENAQPGALKSQRLPDLTTVISVDAPLPG
  TLLLDEVVAAGSTRQHLDQLQYNQQFLSCHDPINIQFTSGTTGSPKGATLSHYNIVNNSNILGERLKLHEKTPEQ
  LRMILPNPLYHCLGSVAGTMMCLMYGATLILASPIFNGKKALEAISRERGTFLYGTPTMFVDILNQPDFSSYDIS
  TMCGGVIAGSPAPPELIRAIINKINMKDLVVAYGTTENSPVTFAHFPEDTVEQKAESVGRIMPHTEARIMNMEAG
  TLAKLNTPGELCIRGYCVMLGYWGEPQKTEEAVDQDKWYWTGDVATMNEQGFCKIVGRSKDMIIRGGENIYPAEL
  EDFFHTHPKVQEVQVVGVKDDRMGEEICACIRLKDGEETTVEEIKAFCKGKISHFKIPKYIVFVTNYPLTISGKI
  QKFKLREQMERHLNL

• Structural information:
  • Interpro: IPR025110  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000401831
• Other Databases: GeneCards:  ACSF2  Malacards:  ACSF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0031956	medium-chain fatty acid-CoA ligase activity	IBA	molecular function
GO:0031956	medium-chain fatty acid-CoA ligase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006637	acyl-CoA metabolic process	TAS	biological process
GO:0003996	acyl-CoA ligase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray