• Gene id: 10412

Gene Summary

• Gene Symbol: NSA2   Gene   UCSC   Ensembl
• Aliases: CDK105, HCL-G1, HCLG1, HUSSY-29, HUSSY29, TINP1
• Gene name: NSA2 ribosome biogenesis factor
• Alternate names: ribosome biogenesis protein NSA2 homolog, NSA2, ribosome biogenesis homolog, TGF beta-inducible nuclear protein 1, TGF-beta inducible nuclear protein, hairy cell leukemia protein 1,
• Gene location: 5q13.3 (74767248: 74780112)     Exons: 7     NC_000005.10
• Gene summary(Entrez): This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in lar
• OMIM: 612497

Protein Summary

• Protein general information: O95478  
  • Name: Ribosome biogenesis protein NSA2 homolog (Hairy cell leukemia protein 1) (TGF beta inducible nuclear protein 1)
  • Length: 260  
  • Mass: 30065
• Sequence:

  MPQNEYIELHRKRYGYRLDYHEKKRKKESREAHERSKKAKKMIGLKAKLYHKQRHAEKIQMKKTIKMHEKRNTKQ
  KNDEKTPQGAVPAYLLDREGQSRAKVLSNMIKQKRKEKAGKWEVPLPKVRAQGETEVLKVIRTGKRKKKAWKRMV
  TKVCFVGDGFTRKPPKYERFIRPMGLRFKKAHVTHPELKATFCLPILGVKKNPSSPLYTTLGVITKGTVIEVNVS
  ELGLVTQGGKVIWGKYAQVTNNPENDGCINAVLLV

• Structural information:
  • Interpro: IPR039411  IPR022309  
  • CDD: cd11381
  • STRING: ENSP00000483484
• Other Databases: GeneCards:  NSA2  Malacards:  NSA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030687	preribosome, large subunit precursor	IBA	cellular component
GO:0000460	maturation of 5.8S rRNA	IBA	biological process
GO:0000470	maturation of LSU-rRNA	IBA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881