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IL7R interleukin 7 receptor [ Homo sapiens (human) ]

Gene ID: 3575, updated on 14-Nov-2022

Summary

Official Symbol
IL7Rprovided by HGNC
Official Full Name
interleukin 7 receptorprovided by HGNC
Primary source
HGNC:HGNC:6024
See related
Ensembl:ENSG00000168685 MIM:146661; AllianceGenome:HGNC:6024
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; IMD104; lnc-IL7R; IL-7R-alpha
Summary
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 interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
Expression
Biased expression in appendix (RPKM 75.5), lymph node (RPKM 68.1) and 10 other tissues See more
Orthologs
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Genomic context

See IL7R in Genome Data Viewer
Location:
5p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (35856891..35879603)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36105155..36127873)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35856993..35879705)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene sperm flagellar 2 Neighboring gene Sharpr-MPRA regulatory region 7256 Neighboring gene uncharacterized LOC105374724 Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene calcyphosine like Neighboring gene CAPSL divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 104
MedGen: C1837028 OMIM: 608971 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat interacts with IL7R and is dependent on first 10 N-terminal residues or residues 17-21 in CD8+ T cells; substitution of first 10 N-terminal residues or deletion of residues 17-21 prevented Tat from interacting with and downregulating IL7R PubMed
tat HIV-1 Tat increases ubiquitination of IL7R and is dependent on E3 ubiquitin ligases PubMed
tat HIV-1 Tat downregulates IL7R and is dependent on Tat basic region; deletion of the basic region prevented Tat from downregulating IL7R (causing IL7R accumulation at the CD8+ cell surface) but DOES NOT prevent binding interaction PubMed
tat HIV-1 Tat downregulates cell surface expression of IL-7R on human CD4 or 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 inhibits the effects of IL-7 on activation of CD8 T-cells signaling via IL-7R 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables antigen binding TAS
Traceable Author Statement
more info
PubMed 
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytokine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables interleukin-7 receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in interleukin-7-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in lymph node development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of receptor signaling pathway via STAT IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of DNA recombination TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
interleukin-7 receptor subunit alpha
Names
CD127 antigen
IL-7 receptor subunit alpha
IL-7R subunit alpha
interleukin 7 receptor alpha chain

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001410734.1NP_001397663.1  interleukin-7 receptor subunit alpha isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC112204
  2. NM_002185.5NP_002176.2  interleukin-7 receptor subunit alpha isoform 1 precursor

    See identical proteins and their annotated locations for NP_002176.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC112204, AF373204, BC020717, BC067540
    Consensus CDS
    CCDS3911.1
    UniProtKB/Swiss-Prot
    P16871, Q9UPC1
    Related
    ENSP00000306157.3, ENST00000303115.8
    Conserved Domains (1) summary
    pfam00041
    Location:131218
    fn3; Fibronectin type III domain

RNA

  1. NR_120485.3 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, FJ529208

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    35856891..35879603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248299.4XP_005248356.1  interleukin-7 receptor subunit alpha isoform X2

    Conserved Domains (1) summary
    pfam00041
    Location:131218
    fn3; Fibronectin type III domain
  2. XM_047417150.1XP_047273106.1  interleukin-7 receptor subunit alpha isoform X3

    Related
    ENSP00000421207.1, ENST00000506850.5
  3. XM_047417149.1XP_047273105.1  interleukin-7 receptor subunit alpha isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    36105155..36127873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)