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IL7R

interleukin 7 receptor

The IL7R gene provides instructions for the interleukin 7 receptor alpha chain, a protein crucial for the development and function of immune system cells, particularly T cells and B cells. The IL7R gene is vital for immune system health, encoding a key component of receptors found on various immune cells.

Chromosome 5p13.2 Autosomal recessive HGNC:6024 Tier C
IL7R 5p13.2 p arm q arm 5

IL7R is located on the short (p) arm of chromosome 5, at band 5p13.2. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 5 in the library →

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Clinical tests that include this

Carrier Screening panel
IL7R is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions
Newborn Genetic Screening panel
IL7R is 1 of 258 genes on this panel
Genomic newborn screening for actionable paediatric conditions

Overview

The IL7R gene, or interleukin 7 receptor gene, plays a fundamental role in the human immune system. It codes for the alpha chain of the interleukin 7 receptor, a protein found on the surface of immune cells such as T cells and B cells, as well as their precursor cells. This receptor is critical for initiating cellular responses necessary for the proper development and function of these immune cells.

What the gene does

The protein produced from the IL7R gene is a crucial component of two distinct receptors: the interleukin-7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. These receptors are embedded within the cell membranes of various immune cells. The IL-7 receptor, present on B and T lymphocytes and their progenitors, binds to the cytokine IL-7. This binding acts like a key fitting into a lock, initiating intracellular signalling pathways that are essential for the development of mature B and T cells. Similarly, the TSLP receptor interacts with the TSLP cytokine, activating signals that support the proliferation and maturation of multiple immune cell types. This intricate signalling ensures the robust functioning of the immune system.

Video: Genetics 101

Chromosome location

The IL7R gene is located on chromosome 5 at position 5p13.2. This region of the human genome contains the genetic instructions necessary for producing the interleukin 7 receptor alpha chain protein.

Protein structure

The IL7R protein comprises 459 amino acids. It features a Fibronectin type-III domain spanning amino acids 131-231, which is involved in cell surface interactions. Within this domain, a WSXWS motif is found between amino acids 217-221, typically involved in cytokine receptor binding. Additionally, a Box 1 motif is located from amino acids 272-280, important for signalling cascades following receptor activation.

Domain map · 459 amino acids
Fibronectin type-III (131-231)WSXWS motif (217-221)Box 1 motif (272-280)Fibronectin type-III131-231WSXWS motif217-221Box 1 motif272-2801~230459
Domain - independent functional unit
Motif - short conserved sequence
🧬 Explore 3D structure on AlphaFold
UniProt:P16871Length:459 aaStructure:AlphaFold

Key variants

Genetic variations within the IL7R gene can impact the structure and function of the interleukin 7 receptor alpha chain. These variants may alter how effectively immune cells develop and respond to pathogens. Understanding these genetic changes is important for identifying potential implications for immune health.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for IL7R.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.221+1G>A
single nucleotide variant
 - Pathogenic ★★★☆ Immunodeficiency 104
c.221+2T>G
single nucleotide variant
 - Pathogenic ★★★☆ Immunodeficiency 104
c.353G>A
single nucleotide variant
 p.Cys118Tyr Pathogenic ★★★☆ Immunodeficiency 104
c.361dup
Duplication
 p.Ile121fs Pathogenic ★★★☆ Immunodeficiency 104
c.379G>A
single nucleotide variant
 p.Val127Ile Pathogenic ★★★☆ Immunodeficiency 104
c.537+1G>A
single nucleotide variant
 - Pathogenic ★★★☆ Immunodeficiency 104
c.538-1G>A
single nucleotide variant
 - Pathogenic ★★★☆ Immunodeficiency 104
c.616C>T
single nucleotide variant
 p.Arg206Ter Pathogenic ★★★☆ Immunodeficiency 104
c.662G>T
single nucleotide variant
 p.Ser221Ile Pathogenic ★★★☆ Immunodeficiency 104
c.83-2A>T
single nucleotide variant
 - Pathogenic ★★★☆ Immunodeficiency 104

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the IL7R gene are associated with inherited immune disorders. One notable condition is a form of severe combined immunodeficiency (SCID), where individuals exhibit reduced immune function, leading to frequent and persistent infections. This specific SCID type, often referred to as T-B+NK+ SCID, is characterised by a deficiency in T cells while B cells and NK cells are present. The IL7R gene may also be associated with complex conditions like Multiple sclerosis.

Inheritance pattern

Conditions caused by pathogenic IL7R variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous IL7R carrier status across ancestry groups?

UK clinical status

In the UK, the IL7R gene is assessed on several NHS Genomic Medicine Service panels. It is listed on the 'COVID-19 research' panel and the 'Primary immunodeficiency or monogenic inflammatory bowel disease' panel, both with a 'green' status, indicating that there is strong evidence for its clinical utility in these contexts.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Primary immunodeficiency or monogenic inflammatory bowel disease · R15 NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the primary function of the IL7R gene?

The IL7R gene provides instructions for making the interleukin 7 receptor alpha chain, a protein critical for the development, growth, and survival of immune cells, particularly T cells and B cells.

What conditions are associated with changes in the IL7R gene?

Variants in the IL7R gene can cause a type of severe combined immunodeficiency (SCID) characterised by a lack of T cells. It is also implicated in complex conditions such as Multiple sclerosis.

How does the IL7R gene relate to the immune system?

The protein produced by the IL7R gene is part of receptors on immune cell surfaces. When these receptors bind to specific signalling proteins (cytokines), they trigger pathways essential for the maturation and function of various immune cells, which are vital for fighting infection.

References

  1. Corfe SA, Paige CJ. The many roles of IL-7 in B cell development; mediator of survival, proliferation and differentiation. Seminars in immunology. 2012. PMID: 22421572
  2. Shochat C, Tal N, Bandapalli OR. Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias. The Journal of experimental medicine. 2011. PMID: 21536738
  3. Zenatti PP, Ribeiro D, Li W. Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nature genetics. 2011. PMID: 21892159
  4. He R, Geha RS. Thymic stromal lymphopoietin. Annals of the New York Academy of Sciences. 2010. PMID: 20146705
  5. Lundmark F, Duvefelt K, Iacobaeus E. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nature genetics. 2007. PMID: 17660816
  6. Gregory SG, Schmidt S, Seth P. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nature genetics. 2007. PMID: 17660817
  7. Giliani S, Mori L, de Saint Basile G. Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunological reviews. 2005. PMID: 15661025
  8. Puel A, Ziegler SF, Buckley RH. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nature genetics. 1998. PMID: 9843216
  9. Akashi K, Kondo M, Weissman IL. Role of interleukin-7 in T-cell development from hematopoietic stem cells. Immunological reviews. 1998. PMID: 9850848
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 11 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .