IL7R

Protein identityUniProt · HPA

UniProt accession

P16871

Gene

IL7R

Ensembl

ENSG00000168685

Chromosome

5

Canonical length

459 aa

Protein class

Cancer-related genes, CD markers, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

459 residues, UniProt reviewed canonical sequence.

>P16871|IL7R
     1  MTILGTTFGM VFSLLQVVSG ESGYAQNGDL EDAELDDYSF SCYSQLEVNG SQHSLTCAFE
    61  DPDVNITNLE FEICGALVEV KCLNFRKLQE IYFIETKKFL LIGKSNICVK VGEKSLTCKK
   121  IDLTTIVKPE APFDLSVVYR EGANDFVVTF NTSHLQKKYV KVLMHDVAYR QEKDENKWTH
   181  VNLSSTKLTL LQRKLQPAAM YEIKVRSIPD HYFKGFWSEW SPSYYFRTPE INNSSGEMDP
   241  ILLTISILSF FSVALLVILA CVLWKKRIKP IVWPSLPDHK KTLEHLCKKP RKNLNVSFNP
   301  ESFLDCQIHR VDDIQARDEV EGFLQDTFPQ QLEESEKQRL GGDVQSPNCP SEDVVITPES
   361  FGRDSSLTCL AGNVSACDAP ILSSSRSLDC RESGKNGPHV YQDLLLSLGT TNSTLPPPFS
   421  LQSGILTLNP VAQGQPILTS LGSNQEEAYV TMSSFYQNQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IL7R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

171 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IL7R.

Disease | AllUniProt

Conditions IL7R is implicated in, by any mechanism.

• Immunodeficiency 104, severe combined (IMD104) MIM:608971
• Multiple sclerosis 3 (MS3) MIM:612595

Disease | GeneticClinVar

64 pathogenic / likely-pathogenic of 604 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Immunodeficiency 104
• Severe combined immunodeficiency disease
• Multiple sclerosis, susceptibility to, 3
• Histiocytic medullary reticulosis
• IL7R-related disorder

ReferencesPubMed · IEDB

Publications for IL7R from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.04

gnomAD pLI

0

gnomAD missense Z

-1.29

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell homeostasis
• B cell proliferation
• cell morphogenesis
• cell surface receptor signaling pathway
• cellular homeostasis
• defense response to Gram-positive bacterium
• gene expression
• hemopoiesis
• immune response
• interleukin-7-mediated signaling pathway
• lymph node development
• negative regulation of T cell apoptotic process
• negative regulation of T cell mediated cytotoxicity
• positive regulation of cell population proliferation
• positive regulation of gene expression
• positive regulation of receptor signaling pathway via JAK-STAT
• positive regulation of receptor signaling pathway via STAT
• positive regulation of T cell differentiation in thymus
• regulation of cell size
• regulation of DNA recombination
• signal transduction
• T cell differentiation in thymus
• T cell homeostasis
• T cell mediated cytotoxicity

Molecular functions

• antigen binding
• cytokine receptor activity
• interleukin-7 receptor activity

Cellular components

• clathrin-coated endocytic vesicle membrane
• cytosol
• external side of plasma membrane
• extracellular region
• nucleoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Short hematopoietin receptor, family 1, conserved site
• Fibronectin type III
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• Fibronectin type III domain
• IL-7Ralpha, fibronectin type III domain
• Fibronectin type III domain

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Membrane
• Phosphoprotein
• Receptor
• SCID
• Secreted
• Signal
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of IL7R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CD53
• IL7
• TSLP