• Gene id: 3575

Gene Summary

• Gene Symbol: IL7R   Gene   UCSC   Ensembl
• Aliases: CD127, CDW127, IL-7R-alpha, IL7RA, ILRA
• Gene name: interleukin 7 receptor
• Alternate names: interleukin-7 receptor subunit alpha, CD127 antigen, IL-7 receptor subunit alpha, IL-7R subunit alpha, interleukin 7 receptor alpha chain, interleukin 7 receptor isoform H5-6,
• Gene location: 5p13.2 (35856890: 35879602)     Exons: 8     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleuk
• OMIM: 146661

Protein Summary

• Protein general information: P16871  
  • Name: Interleukin 7 receptor subunit alpha (IL 7 receptor subunit alpha) (IL 7R subunit alpha) (IL 7R alpha) (IL 7RA) (CDw127) (CD antigen CD127)
  • Length: 459  
  • Mass: 51579
• Sequence:

  MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICG
  ALVEVKCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTF
  NTSHLQKKYVKVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYY
  FRTPEINNSSGEMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNP
  ESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVS
  ACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYV
  TMSSFYQNQ

• Structural information:
  • Protein Domains: (131..23-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR040997  IPR003961  IPR036116  IPR003531  IPR013783  
  • Prosite: PS50853 PS01355
  • CDD: cd00063
  • PDB: 3DI2 3DI3 3UP1 5J11 6P50 6P67
  • PDBsum: 3DI2 3DI3 3UP1 5J11 6P50 6P67
  • DIP: 3045
  • STRING: ENSP00000306157
• Other Databases: GeneCards:  IL7R  Malacards:  IL7R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004917	interleukin-7 receptor activity	TAS	molecular function
GO:0003823	antigen binding	TAS	molecular function
GO:0006955	immune response	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0000018	regulation of DNA recombination	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008361	regulation of cell size	IEA	biological process
GO:0002377	immunoglobulin production	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0070233	negative regulation of T cell apoptotic process	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0001915	negative regulation of T cell mediated cytotoxicity	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0004896	cytokine receptor activity	IDA	molecular function
GO:1904894	positive regulation of receptor signaling pathway via STAT	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04068	FoxO signaling pathway
hsa04640	Hematopoietic cell lineage
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Female infertility	INFBASE: 15552530
Polycystic ovary syndrome (PCOS)	INFBASE: 23375040
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 8671470
Incomplete maturation arrest (IMA)	MIK: 21235388
Spermatogenesis defects	MIK: 17215863
Spermatogenesis defects	MIK: 23869807
Sertoli cell only syndrome (SCOS)	MIK: 21235388
Spermatogenesis defects	MIK: 23869807
Disease-related dysmenorrhea	INFBASE: 17292896
T-B+Severe combined immunodeficiency	KEGG:H00091
T-B+Severe combined immunodeficiency	KEGG:H00091
severe combined immunodeficiency	PMID:9843216
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)