• Gene id: 100141515

Gene Summary

• Gene Symbol: C17orf99   Gene   UCSC   Ensembl
• Aliases: IL-40, UNQ464
• Gene name: chromosome 17 open reading frame 99
• Alternate names: protein IL-40, GLPG464, interleukin-40, uncharacterized protein C17orf99,
• Gene location: 17q25.3 (78146034: 78166296)     Exons: 15     NC_000017.11

Protein Summary

• Protein general information: Q6UX52  
  • Name: Protein IL 40 (Interleukin 40) (IL 40)
  • Length: 265  
  • Mass: 29091
  • Tissue specificity: Expressed in fetal liver and bone marrow (PubMed
• Sequence:

  MGLPGLFCLAVLAASSFSKAREEEITPVVSIAYKVLEVFPKGRWVLITCCAPQPPPPITYSLCGTKNIKVAKKVV
  KTHEPASFNLNVTLKSSPDLLTYFCWASSTSGAHVDSARLQMHWELWSKPVSELRANFTLQDRGAGPRVEMICQA
  SSGSPPITNSLIGKDGQVHLQQRPCHRQPANFSFLPSQTSDWFWCQAANNANVQHSALTVVPPGGDQKMEDWQGP
  LESPILALPLYRSTRRLSEEEFGGFRIGNGEVRGRKAAAM

• Structural information:
  • Interpro: IPR040878  
• Other Databases: GeneCards:  C17orf99  Malacards:  C17orf99

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:2000558	positive regulation of immunoglobulin production in mucosal tissue	ISS	biological process
GO:0002313	mature B cell differentiation involved in immune response	ISS	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq