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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IL7R
interleukin 7 receptor
Chromosome 5 Β· 5p13.2
NCBI Gene: 3575Ensembl: ENSG00000168685.16HGNC: HGNC:6024UniProt: P16871
351PubMed Papers
22Diseases
0Drugs
64Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular homeostasisinterleukin-7-mediated signaling pathwayprotein bindingcytokine receptor activityimmunodeficiency 104T-B+ severe combined immunodeficiency due to JAK3 deficiencyasthmamultiple sclerosis
✦AI Summary

IL7R encodes the interleukin-7 receptor, which is critical for T cell development, differentiation, and survival, as well as B cell development in mice and innate lymphoid cell maintenance 1. The receptor functions through JAK-STAT signaling pathways and is essential for lymphoid structure generation and barrier defense 1. IL7R expression exhibits functional heterogeneity across immune cells, with CD127 (IL7R subunit) marking anti-inflammatory monocyte subsets that restrain inflammatory gene expression through STAT5-coordinated programs in diseases like COVID-19 and rheumatoid arthritis 2. In cancer contexts, IL7R expression is associated with specific cellular phenotypes, including inflammatory myofibroblasts in skin diseases and cancer 3, and its downregulation correlates with disease progression in cutaneous T-cell lymphoma 4. The receptor also plays pathological roles in liver fibrosis, where IL7R interacts with TGF-Ξ² receptors to promote hepatic stellate cell activation and fibrogenesis 5. Additionally, IL7R has been identified as a potential biomarker in major depressive disorder, correlating with immune microenvironment changes 6, and serves as a target for anti-inflammatory microRNA regulation in inflammatory bowel diseases 7.

Sources cited
1
IL7R is critical for T cell and B cell development, differentiation and survival, and functions in lymphoid structure generation
PMID: 31745336
2
CD127 (IL7R subunit) marks anti-inflammatory monocyte subsets that restrain inflammation through STAT5 programs
PMID: 35015026
3
IL7R is expressed in inflammatory myofibroblasts associated with skin diseases and cancer
PMID: 40993240
4
IL7R downregulation correlates with disease progression in cutaneous T-cell lymphoma
PMID: 34583709
5
IL7R interacts with TGF-Ξ² receptors to promote hepatic stellate cell activation in liver fibrosis
PMID: 40080840
6
IL7R is identified as a potential biomarker in major depressive disorder
PMID: 39419187
7
IL7R serves as a target for microRNA regulation in inflammatory bowel diseases
PMID: 30779922
Disease Associationsβ“˜22
immunodeficiency 104Open Targets
0.80Strong
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.60Moderate
asthmaOpen Targets
0.58Moderate
multiple sclerosisOpen Targets
0.58Moderate
Omenn syndromeOpen Targets
0.56Moderate
atopic eczemaOpen Targets
0.54Moderate
hypothyroidismOpen Targets
0.54Moderate
allergic rhinitisOpen Targets
0.54Moderate
Eczematoid dermatitisOpen Targets
0.53Moderate
severe combined immunodeficiencyOpen Targets
0.53Moderate
primary biliary cirrhosisOpen Targets
0.52Moderate
allergic diseaseOpen Targets
0.52Moderate
dermatitisOpen Targets
0.52Moderate
skin diseaseOpen Targets
0.50Moderate
respiratory system diseaseOpen Targets
0.48Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyOpen Targets
0.46Moderate
type 1 diabetes mellitusOpen Targets
0.45Moderate
Immunodeficiency 104, severe combinedUniProt
Multiple sclerosis 3UniProt
Pathogenic Variants64
NM_002185.5(IL7R):c.379G>A (p.Val127Ile)Pathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2024β†’ Residue 127
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)Likely pathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2024β†’ Residue 119
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)Pathogenic
not provided|Immunodeficiency 104|T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 206
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)Likely pathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2024β†’ Residue 79
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)Likely pathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2024β†’ Residue 132
NM_002185.5(IL7R):c.538-1G>APathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2023
NM_002185.5(IL7R):c.361dup (p.Ile121fs)Pathogenic
Immunodeficiency 104|not provided|Severe combined immunodeficiency disease|Multiple sclerosis, susceptibility to, 3
β˜…β˜…β˜…β˜†2023β†’ Residue 121
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)Likely pathogenic
Immunodeficiency 104
β˜…β˜…β˜…β˜†2023β†’ Residue 235
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)Pathogenic
not specified|not provided|Immunodeficiency 104|Severe combined immunodeficiency disease
β˜…β˜…β˜…β˜†2023β†’ Residue 221
NM_002185.5(IL7R):c.83-2A>TPathogenic
Immunodeficiency 104|not provided
β˜…β˜…β˜…β˜†2023
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)Pathogenic
Severe combined immunodeficiency disease|Immunodeficiency 104|not provided
β˜…β˜…β˜…β˜†2023β†’ Residue 118
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)Likely pathogenic
Histiocytic medullary reticulosis|not provided|Immunodeficiency 104|IL7R-related disorder
β˜…β˜…β˜…β˜†2023β†’ Residue 89
NM_002185.5(IL7R):c.2T>G (p.Met1Arg)Likely pathogenic
Immunodeficiency 104|Severe combined immunodeficiency disease|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)Pathogenic
Immunodeficiency 104
β˜…β˜…β˜†β˜†2025β†’ Residue 72
NM_002185.5(IL7R):c.221+2T>GPathogenic
not provided|Immunodeficiency 104
β˜…β˜…β˜†β˜†2025
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)Likely pathogenic
Severe combined immunodeficiency disease|not provided|Immunodeficiency 104
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_002185.5(IL7R):c.537+1G>APathogenic
Immunodeficiency 104
β˜…β˜…β˜†β˜†2025
NM_002185.5(IL7R):c.534G>A (p.Trp178Ter)Pathogenic
Immunodeficiency 104
β˜…β˜…β˜†β˜†2024β†’ Residue 178
NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)Pathogenic
Immunodeficiency 104
β˜…β˜…β˜†β˜†2024β†’ Residue 156
NM_002185.5(IL7R):c.221+2T>APathogenic
Immunodeficiency 104
β˜…β˜…β˜†β˜†2024
View on ClinVar β†—
Related Genes
LCKProtein interaction100%IL15RAProtein interaction100%IFNGProtein interaction99%PTPRCProtein interaction98%FOXP3Protein interaction98%IFNA4Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
10%
Liver
4%
Heart
2%
Ovary
1%
Brain
1%
Gene Interaction Network
Click a node to explore
IL7RLCKIL15RAIFNGPTPRCFOXP3IFNA4
PROTEIN STRUCTURE
Preparing viewer…
PDB7OPB Β· 2.14 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.55–0.98]
RankingsWhere IL7R stands among ~20K protein-coding genes
  • #890of 20,598
    Most Researched351 Β· top 5%
  • #1,115of 5,498
    Most Pathogenic Variants64 Β· top quartile
  • #9,354of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedIL7R
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Flip the coin: IL-7 and IL-7R in health and disease.
PMID: 31745336
Nat Immunol Β· 2019
1.00
2
A single-cell and spatial genomics atlas of human skin fibroblasts reveals shared disease-related fibroblast subtypes across tissues.
PMID: 40993240
Nat Immunol Β· 2025
0.90
3
CD127 imprints functional heterogeneity to diversify monocyte responses in inflammatory diseases.
PMID: 35015026
J Exp Med Β· 2022
0.80
4
IL7R gene expression network associates with human healthy ageing.
PMID: 26566388
Immun Ageing Β· 2015
0.72
5
Signatures of EMT, immunosuppression, and inflammation in primary and recurrent human cutaneous squamous cell carcinoma at single-cell resolution.
PMID: 36438481
Theranostics Β· 2022
0.70