• Gene id: 160419

Gene Summary

• Gene Symbol: C12orf50   Gene   UCSC   Ensembl
• Gene name: chromosome 12 open reading frame 50
• Alternate names: uncharacterized protein C12orf50,
• Gene location: 12q21.32 (182986363: 182938073)     Exons: 10     NC_000003.12

Protein Summary

• Protein general information: Q8NA57  
  • Name: Uncharacterized protein C12orf50
  • Length: 414  
  • Mass: 47326
• Sequence:

  MEMQQNCSISCFWETQPLGCVKISCIFYHSKPRNINGLFLPPSSNITLQKEIQEGIPLQSQSQEPLKPQENISRP
  IHHPLVLKTNFEEEEEVDEQNDASSLWTKTPEEIEEKRAIKEMCYKSGEYYRFHTPPDILSSKSMTPTAEKQLEK
  PLENGSELQEGDSLTVPTKLSQYERQGEIKTSLHGKPKTDIAAFENGGGDCYVPQRVIFLGVDESEALTEEKEIT
  ISKCSNTKDNKDSPHPKHSLTTRLVPTTHVLNATENISMKCREDPSSMNDVQPVKKPHFKGVKKRKWIYDEPQNF
  PNSGMQRAVQAPRPQNKMSYHRNNKNRNAENASYIHVQRDAVRTVALNAPSRSRPTHGSYNKVHANREPKPNLSP
  DKYTSTSYNDSAWRKRIPFSKTYSKSEKIYPEPRRNGSK

• Structural information:
  • Interpro: IPR040943  IPR041686  
  • STRING: ENSP00000298699
• Other Databases: GeneCards:  C12orf50  Malacards:  C12orf50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003729	mRNA binding	IBA	molecular function
GO:0016973	poly(A)+ mRNA export from nucleus	IBA	biological process
GO:0000346	transcription export complex	IBA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray