• Gene id: 79074

Gene Summary

• Gene Symbol: C2orf49   Gene   UCSC   Ensembl
• Aliases: asw
• Gene name: chromosome 2 open reading frame 49
• Alternate names: ashwin,
• Gene location: 2q12.2 (105337364: 105359939)     Exons: 7     NC_000002.12
• OMIM: 612072

Protein Summary

• Protein general information: Q9BVC5  
  • Name: Ashwin
  • Length: 232  
  • Mass: 25858
• Sequence:

  MAGDVGGRSCTDSELLLHPELLSQEFLLLTLEQKNIAVETDVRVNKDSLTDLYVQHAIPLPQRDLPKNRWGKMME
  KKREQHEIKNETKRSSTVDGLRKRPLIVFDGSSTSTSIKVKKTENGDNDRLKPPPQASFTSNAFRKLSNSSSSVS
  PLILSSNLPVNNKTEHNNNDAKQNHDLTHRKSPSGPVKSPPLSPVGTTPVKLKRAAPKEEAEAMNNLKPPQAKRK
  IQHVTWP

• Structural information:
  • Interpro: IPR024887  
  • STRING: ENSP00000258457
• Other Databases: GeneCards:  C2orf49  Malacards:  C2orf49

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072669	tRNA-splicing ligase complex	IBA	cellular component
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0072669	tRNA-splicing ligase complex	IDA	cellular component
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0072669	tRNA-splicing ligase complex	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	TAS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray