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IL7R interleukin 7 receptor [ Homo sapiens (human) ]

Gene ID: 3575, updated on 21-Dec-2014
Official Symbol
IL7Rprovided by HGNC
Official Full Name
interleukin 7 receptorprovided by HGNC
Primary source
HGNC:HGNC:6024
See related
Ensembl:ENSG00000168685; HPRD:00893; MIM:146661; Vega:OTTHUMG00000090791
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ILRA; CD127; IL7RA; CDW127; IL-7R-alpha
Summary
The protein encoded by this gene is a receptor for interleukine 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 interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2014]
See IL7R in Epigenomics, MapViewer
Location:
5p13
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (35856875..35879603)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35856977..35879705)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene prolactin receptor Neighboring gene sperm flagellar 2 Neighboring gene uncharacterized LOC100506406 Neighboring gene calcyphosine-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.
NHGRI GWA Catalog
Risk alleles for multiple sclerosis identified by a genomewide study.
NHGRI GWA Catalog
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat inhibits the effects of IL-7 on activation of CD8 T-cells signaling via IL-7R PubMed
tat HIV-1 Tat downregulates cell surface expression of IL-7R on human CD8 T-cells in a dose- and time-dependent manner PubMed
tat HIV-1 Tat-mediated degradation of IL-7R alpha-chain (CD127) from the surface of resting CD8 T cells leads to reduced IL-7 signaling and to impaired CD8 T cell proliferation and function PubMed
tat HIV-1 Tat upregulates the expression of IL-7R in human macrophages, which leads to the enhancement of HIV-1 replication PubMed
tat HIV-1 Tat and IL-7 act synergistically to downregulate CD127 on CD8+ T cells. Downregulation of CD127 by IL-7 requires JAK activation pathway PubMed
Vif vif HIV-1 Vif upregulates the expression of interleukin 7 receptor (IL7R) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interleukin-7 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-7 signaling, organism-specific biosystemInterleukin-7 (IL7) is produced primarily by T zone fibroblastic reticular cells found in lymphoid organs, and also expressed by non-hematopoietic stromal cells present in other tissues including the...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • TSLP Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TSLP Signaling Pathway, organism-specific biosystemThymic stromal lymphopoietin (TSLP) is a type I cytokine member of interleukin-2 cytokine family. TSLP signals through interleukin-7 receptor a chain (IL-7Ra) and the TSLP receptor subunit (TSLPR), h...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antigen binding TAS
Traceable Author Statement
more info
PubMed 
interleukin-7 receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell growth IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
immunoglobulin production IEA
Inferred from Electronic Annotation
more info
 
interleukin-7-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
lymph node development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA recombination TAS
Traceable Author Statement
more info
PubMed 
regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
interleukin-7 receptor subunit alpha
Names
interleukin-7 receptor subunit alpha
IL-7RA
CD127 antigen
IL-7R subunit alpha
IL-7 receptor subunit alpha
interleukin 7 receptor alpha chain
interleukin 7 receptor isoform H5-6

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009567.1 

    Range
    4987..26934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_74

mRNA and Protein(s)

  1. NM_002185.3NP_002176.2  interleukin-7 receptor subunit alpha precursor

    See proteins identical to NP_002176.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AC112204, AF373204, BC020717, BC067540, CD703890
    Consensus CDS
    CCDS3911.1
    UniProtKB/Swiss-Prot
    P16871
    Related
    ENSP00000306157, OTTHUMP00000116000, ENST00000303115, OTTHUMT00000207577
    Conserved Domains (1) summary
    cd00063
    Location:169228
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RNA

  1. NR_120485.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC112204, AF373204, CD703890, FJ529208

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    35856875..35879603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248299.2XP_005248356.1  

    See proteins identical to XP_005248356.1

    Conserved Domains (1) summary
    cd00063
    Location:169228
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
  2. XM_005248300.1XP_005248357.1  

    UniProtKB/TrEMBL
    D6RGV2
    Related
    ENSP00000421207, OTTHUMP00000221223, ENST00000506850, OTTHUMT00000367184
    Conserved Domains (1) summary
    cd00063
    Location:169228
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    35859671..35882400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    35806996..35829599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)