IL7R interleukin 7 receptor [Homo sapiens (human)] - Gene

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; sIL-7R; lnc-IL7R; IL7Ralpha; IL-7Ralpha; 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: mouse all
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Genomic context

Location:: 5p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (35856891..35879603)
RS_2023_10	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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of the IL7Ralpha Gene Polymorphism rs6897932 and the Expression Levels of the CDH1, TTPAL, and FHIT Genes in Patients with Breast Cancer.
Title: Investigation of the IL7Rα Gene Polymorphism rs6897932 and the Expression Levels of the CDH1, TTPAL, and FHIT Genes in Patients with Breast Cancer.
A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.
Title: A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.
IL7RA rs10491434 polymorphism is related to spontaneous HIV infection control in naive HIV-infected patients: A retrospective study.
Title: IL7RA rs10491434 polymorphism is related to spontaneous HIV infection control in naïve HIV-infected patients: A retrospective study.
Diminished Interleukin-7 receptor expression on T-cell subsets in tuberculosis patients.
Title: Diminished Interleukin-7 receptor expression on T-cell subsets in tuberculosis patients.
Nuclear PLD1 combined with NPM1 induces gemcitabine resistance through tumorigenic IL7R in pancreatic adenocarcinoma.
Title: Nuclear PLD1 combined with NPM1 induces gemcitabine resistance through tumorigenic IL7R in pancreatic adenocarcinoma.
The Therapeutic Values of IL-7/IL-7R and the Recombinant Derivatives in Glioma: A Narrative Review.
Title: The Therapeutic Values of IL-7/IL-7R and the Recombinant Derivatives in Glioma: A Narrative Review.
CD4+CD25+CD127[lo]FOXP3+ cell in food allergy: Does it predict anaphylaxis?
Title: CD4+CD25+CD127(lo)FOXP3+ cell in food allergy: Does it predict anaphylaxis?
IL-7 and IL-7R in health and disease: An update through COVID times.
Title: IL-7 and IL-7R in health and disease: An update through COVID times.
In patients with primary Sjogren's syndrome innate-like MAIT cells display upregulated IL-7R, IFN-gamma, and IL-21 expression and have increased proportions of CCR9 and CXCR5-expressing cells.
Title: In patients with primary Sjögren's syndrome innate-like MAIT cells display upregulated IL-7R, IFN-γ, and IL-21 expression and have increased proportions of CCR9 and CXCR5-expressing cells.
Computational studies reveal co-occurrence of two mutations in IL7R gene of high-grade serous carcinoma patients.
Title: Computational studies reveal co-occurrence of two mutations in IL7R gene of high-grade serous carcinoma patients.

Submit: New GeneRIF Correction See all GeneRIFs (272)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency 104 MedGen: C5676890 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 EBI GWAS CatalogPubMed
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk alleles for multiple sclerosis identified by a genomewide study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80968 (e-PCR)
- UniSTS:91923

IL7R_1228 (e-PCR)
- UniSTS:277380

IL7R (e-PCR)
- UniSTS:253846

STS-T65739 (e-PCR)
- UniSTS:48046

PMC311006P5 (e-PCR)
- UniSTS:272832

DXS9737 (e-PCR)
- UniSTS:46335

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
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
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
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
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
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

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Preferred Names: interleukin-7 receptor subunit alpha

Names: CD127 antigen; IL-7 receptor subunit alpha; IL-7R subunit alpha; interleukin 7 receptor alpha chain; soluble interleukin-7 receptor

NCBI Reference Sequences (RefSeq)

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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

NG_009567.1 RefSeqGene

Range

4987..26934

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_74

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC112204
NM_002185.5 → NP_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

B2RCS6, B4DVT1, P16871, Q05CU8, Q6NSP4, Q6NWM0, Q6NWM1, Q6NWM2, Q6NWM3, Q6SV45, Q9UPC1

Related

ENSP00000306157.3, ENST00000303115.8

Conserved Domains (1) summary

pfam00041
Location:131 → 218

fn3; Fibronectin type III domain

RNA

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