• Gene id: 246778

Gene Summary

• Gene Symbol: IL27   Gene   UCSC   Ensembl
• Aliases: IL-27, IL-27A, IL27A, IL27p28, IL30, p28
• Gene name: interleukin 27
• Alternate names: interleukin-27 subunit alpha, IL-27 p28 subunit, IL-27 subunit alpha, IL-27-A, IL27-A, interleukin-30,
• Gene location: 16p12.1-p11.2 (28526729: 28499361)     Exons: 21     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and
• OMIM: 608273

SNPs

rs17855750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28503907A>C
NC_000016.10   g.28503907A>T
NC_000016.9   g.28515228A>C
NC_000016.9   g.28515228A>T
NM_145659.3   c.175T>G
NM_145659.3   c.175T>A
XM_011545780.2   c.181T>G
XM_011545780.2   c.181T>A
NP_663634.2   p.Ser59Ala
NP_663634.2   p.Ser59Thr
XP_01154  

rs153109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28507775T>C
NC_000016.9   g.28519096T>C|SEQ=[T/C]|GENE=IL27

Protein Summary

• Protein general information: Q8NEV9  
  • Name: Interleukin 27 subunit alpha (IL 27 subunit alpha) (IL 27 A) (IL27 A) (Interleukin 30) (p28)
  • Length: 243  
  • Mass: 27493
  • Tissue specificity: Expressed in monocytes and in placenta. {ECO
• Sequence:

  MGQTAGDLGWRLSLLLLPLLLVQAGVWGFPRPPGRPQLSLQELRREFTVSLHLARKLLSEVRGQAHRFAESHLPG
  VNLYLLPLGEQLPDVSLTFQAWRRLSDPERLCFISTTLQPFHALLGGLGTQGRWTNMERMQLWAMRLDLRDLQRH
  LRFQVLAAGFNLPEEEEEEEEEEEEERKGLLPGALGSALQGPAQVSWPQLLSTYRLLHSLELVLSRAVRELLLLS
  KAGHSVWPLGFPTLSPQP

• Structural information:
  • Interpro: IPR026207  
  • DIP: 59473
  • STRING: ENSP00000349365
• Other Databases: GeneCards:  IL27  Malacards:  IL27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045523	interleukin-27 receptor binding	IBA	molecular function
GO:0045625	regulation of T-helper 1 cell differentiation	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0042129	regulation of T cell proliferation	IBA	biological process
GO:0045078	positive regulation of interferon-gamma biosynthetic process	IBA	biological process
GO:0042129	regulation of T cell proliferation	IEA	biological process
GO:0045523	interleukin-27 receptor binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0050688	regulation of defense response to virus	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0070106	interleukin-27-mediated signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045523	interleukin-27 receptor binding	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0002230	positive regulation of defense response to virus by host	IEA	biological process
GO:0042129	regulation of T cell proliferation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0045625	regulation of T-helper 1 cell differentiation	IDA	biological process
GO:0045078	positive regulation of interferon-gamma biosynthetic process	IDA	biological process
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0042129	regulation of T cell proliferation	ISS	biological process
GO:0005615	extracellular space	ISS	cellular component
GO:0045523	interleukin-27 receptor binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Asthma	PMID:20817868
Asthma	PMID:17318299
Chronic obstructive pulmonary disease	PMID:18554158
systemic scleroderma	PMID:20705635
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