• Gene id: 27109

Gene Summary

• Gene Symbol: DMAC2L   Gene   UCSC   Ensembl
• Aliases: ATP5S, ATPW, FB, HSU79253
• Gene name: distal membrane arm assembly complex 2 like
• Alternate names: ATP synthase subunit s, mitochondrial, ATP synthase coupling factor B, mitochondrial, ATP synthase coupling factor B-like 1, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B), ATP synthase, H+ transporting, mitochondrial Fo complex,
• Gene location: 14q21.3 (50311520: 50327956)     Exons: 11     NC_000014.9
• Gene summary(Entrez): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two lin
• OMIM: 618579

Protein Summary

• Protein general information: Q99766  
  • Name: ATP synthase subunit s, mitochondrial (ATP synthase coupling factor B) (FB) (Distal membrane arm assembly complex 2 like protein) (Mitochondrial ATP synthase regulatory component factor B)
  • Length: 215  
  • Mass: 24866
• Sequence:

  MCCAVSEQRLTCADQMMPFGKISQQLCGVKKLPWSCDSRYFWGWLNAVFNKVDYDRIRDVGPDRAASEWLLRCGA
  MVRYHGQERWQKDYNHLPTGPLDKYKIQAIDATDSCIMSIGFDHMEGLEHVEKIRLCKCHYIEDDCLLRLSQLEN
  LQKTILEMEIISCGNITDKGIIALRHLRNLKYLLLSDLPGVREKENLVQAFKTALPSLELKLQLK

• Structural information:
  • Interpro: IPR026063  IPR032675  
  • STRING: ENSP00000308334
• Other Databases: GeneCards:  DMAC2L  Malacards:  DMAC2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015078	proton transmembrane transporter activity	NAS	molecular function
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0042407	cristae formation	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq