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Aliases for IL7R Gene

Aliases for IL7R Gene

  • Interleukin 7 Receptor 2 3 5
  • IL-7 Receptor Subunit Alpha 3 4
  • IL-7R Subunit Alpha 3 4
  • CD127 Antigen 3 4
  • IL-7R-Alpha 3 4
  • CDW127 3 4
  • Interleukin-7 Receptor Subunit Alpha 3
  • Interleukin 7 Receptor Isoform H5-6 3
  • Interleukin 7 Receptor Alpha Chain 3
  • IL-7RA 4
  • CD127 3
  • IL7RA 3
  • ILRA 3

External Ids for IL7R Gene

Previous GeneCards Identifiers for IL7R Gene

  • GC05P036038
  • GC05P036923
  • GC05P035857
  • GC05P035902
  • GC05P035892

Summaries for IL7R Gene

Entrez Gene Summary for IL7R 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]

GeneCards Summary for IL7R Gene

IL7R (Interleukin 7 Receptor) is a Protein Coding gene. Diseases associated with IL7R include Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/Natural Killer-Cell Positive and Severe Combined Immunodeficiency. Among its related pathways are Immune System and TSLP Signaling Pathway. GO annotations related to this gene include antigen binding and interleukin-7 receptor activity.

UniProtKB/Swiss-Prot for IL7R Gene

  • Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

Gene Wiki entry for IL7R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL7R Gene

Genomics for IL7R Gene

Regulatory Elements for IL7R Gene

Enhancers for IL7R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F035851 1.1 FANTOM5 ENCODE 37.2 +3.4 3397 8.6 PKNOX1 RAD21 RFX5 CBX5 ETV6 FOS SMARCC1 CEBPB JUNB TBX21 IL7R LOC105374724 CAPSL LOC100506406 RNU7-130P LMBRD2 SPEF2 ENSG00000279737
GH05F035672 1 FANTOM5 Ensembl ENCODE 27.3 -179.2 -179169 1.7 IL7R SPEF2 RNU7-130P LOC105374724
GH05F035796 1.3 FANTOM5 Ensembl ENCODE 21.1 -55.4 -55411 1.4 SOX13 SCRT1 PKNOX1 SCRT2 IL7R SPEF2 LOC105374724 RNU7-130P
GH05F035830 0.7 Ensembl ENCODE 16.1 -21.7 -21682 1.4 IL7R CAPSL LOC100506406 RNU7-130P LOC105374724
GH05F035820 1.2 FANTOM5 Ensembl ENCODE 15.2 -30.3 -30252 3.9 IL7R LOC105374724 RNU7-130P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IL7R on UCSC Golden Path with GeneCards custom track

Promoters for IL7R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001868154 -1394 600

Genomic Location for IL7R Gene

Chromosome:
5
Start:
35,852,695 bp from pter
End:
35,879,603 bp from pter
Size:
26,909 bases
Orientation:
Plus strand

Genomic View for IL7R Gene

Genes around IL7R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL7R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL7R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL7R Gene

Proteins for IL7R Gene

  • Protein details for IL7R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16871-IL7RA_HUMAN
    Recommended name:
    Interleukin-7 receptor subunit alpha
    Protein Accession:
    P16871
    Secondary Accessions:
    • B2RCS6
    • B4DVT1
    • Q05CU8
    • Q6NSP4
    • Q6NWM0
    • Q6NWM1
    • Q6NWM2
    • Q6NWM3
    • Q6SV45
    • Q9UPC1

    Protein attributes for IL7R Gene

    Size:
    459 amino acids
    Molecular mass:
    51581 Da
    Quaternary structure:
    • The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R.
    SequenceCaution:
    • Sequence=AAH20717.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL7R Gene

    Alternative splice isoforms for IL7R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL7R Gene

Post-translational modifications for IL7R Gene

  • N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.
  • Glycosylation at Asn 49, Asn 65, Asn 151, Asn 182, Asn 232, and Asn 233
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for IL7R (IL-7 R alpha/CD127)
  • Santa Cruz Biotechnology (SCBT) Antibodies for IL7R

No data available for DME Specific Peptides for IL7R Gene

Domains & Families for IL7R Gene

Protein Domains for IL7R Gene

Suggested Antigen Peptide Sequences for IL7R Gene

Graphical View of Domain Structure for InterPro Entry

P16871

UniProtKB/Swiss-Prot:

IL7RA_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with IL7R: view

Function for IL7R Gene

Molecular function for IL7R Gene

GENATLAS Biochemistry:
interleukin 7,receptor (see IL2RG),with a membrane bound and an alternatively spliced secreted form
UniProtKB/Swiss-Prot Function:
Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).

Gene Ontology (GO) - Molecular Function for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding TAS 9495344
GO:0004896 cytokine receptor activity IEA --
GO:0004917 interleukin-7 receptor activity TAS 8266077
GO:0005515 protein binding IPI 8266077
genes like me logo Genes that share ontologies with IL7R: view
genes like me logo Genes that share phenotypes with IL7R: view

Human Phenotype Ontology for IL7R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL7R Gene

MGI Knock Outs for IL7R:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for IL7R (IL-7 R alpha/CD127)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL7R Gene

Localization for IL7R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL7R Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 3: Cell membrane; Single-pass type I membrane protein.
Isoform 4: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IL7R Gene COMPARTMENTS Subcellular localization image for IL7R gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL7R: view

Pathways & Interactions for IL7R Gene

genes like me logo Genes that share pathways with IL7R: view

SIGNOR curated interactions for IL7R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL7R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination TAS 9495344
GO:0000902 cell morphogenesis IEA --
GO:0001915 negative regulation of T cell mediated cytotoxicity IEA --
GO:0002377 immunoglobulin production IEA --
GO:0006955 immune response TAS 9843216
genes like me logo Genes that share ontologies with IL7R: view

Drugs & Compounds for IL7R Gene

(5) Drugs for IL7R Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CYT-107 Pharma 0

(4) Additional Compounds for IL7R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL7R: view

Transcripts for IL7R Gene

Unigene Clusters for IL7R Gene

Interleukin 7 receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for IL7R (IL-7 R alpha/CD127)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL7R Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for IL7R Gene

GeneLoc Exon Structure for
IL7R
ECgene alternative splicing isoforms for
IL7R

Expression for IL7R Gene

mRNA expression in normal human tissues for IL7R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL7R Gene

This gene is overexpressed in Whole Blood (x11.1), Lung (x8.1), Small Intestine - Terminal Ileum (x7.0), and Spleen (x5.3).

Protein differential expression in normal tissues from HIPED for IL7R Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.8) and CD4 Tcells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL7R Gene



Protein tissue co-expression partners for IL7R Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL7R Gene:

IL7R

SOURCE GeneReport for Unigene cluster for IL7R Gene:

Hs.591742
genes like me logo Genes that share expression patterns with IL7R: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for IL7R Gene

Orthologs for IL7R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL7R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL7R 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia IL7R 34 35
  • 83.52 (n)
cow
(Bos Taurus)
Mammalia IL7R 34 35
  • 82.46 (n)
rat
(Rattus norvegicus)
Mammalia Il7r 34
  • 75.37 (n)
mouse
(Mus musculus)
Mammalia Il7r 34 16 35
  • 74.56 (n)
oppossum
(Monodelphis domestica)
Mammalia IL7R 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL7R 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL7R 34 35
  • 52.87 (n)
lizard
(Anolis carolinensis)
Reptilia IL7R 35
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii il7r 35
  • 25 (a)
OneToOne
Species where no ortholog for IL7R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL7R Gene

ENSEMBL:
Gene Tree for IL7R (if available)
TreeFam:
Gene Tree for IL7R (if available)

Paralogs for IL7R Gene

No data available for Paralogs for IL7R Gene

Variants for IL7R Gene

Sequence variations from dbSNP and Humsavar for IL7R Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs104893893 Pathogenic 35,873,593(+) TTCTG(A/G)AGTGA intron-variant, reference, stop-gained
rs104893894 Pathogenic 35,871,070(+) AGGCT(C/T)CTTTT nc-transcript-variant, reference, missense
rs1494555 Pathogenic 35,871,088(-) ATAGA(C/T)GACAC nc-transcript-variant, reference, missense
rs1494558 Pathogenic 35,860,966(-) TGGTG(A/G)TGTTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs193922641 Pathogenic 35,867,437(+) AACCT(A/G)CAAAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for IL7R Gene

Variant ID Type Subtype PubMed ID
esv3570069 CNV loss 25503493
esv3604707 CNV gain 21293372
nsv471011 CNV gain 18288195
nsv483069 CNV gain 15286789
nsv597813 CNV gain 21841781
nsv597814 CNV loss 21841781
nsv597815 CNV loss 21841781
nsv830261 CNV gain 17160897

Variation tolerance for IL7R Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL7R Gene

Human Gene Mutation Database (HGMD)
IL7R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL7R

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL7R Gene

Disorders for IL7R Gene

MalaCards: The human disease database

(18) MalaCards diseases for IL7R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive
  • severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
severe combined immune deficiency
  • severe combined immunodeficiency
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
- elite association - COSMIC cancer census association via MalaCards
Search IL7R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL7RA_HUMAN
  • Multiple sclerosis 3 (MS3) [MIM:612595]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major C allele coding for Thr-244 is detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either C allele (Thr-244) or T allele (Ile-244) shows that the C allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated C risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IL7R

Genetic Association Database (GAD)
IL7R
Human Genome Epidemiology (HuGE) Navigator
IL7R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL7R
genes like me logo Genes that share disorders with IL7R: view

No data available for Genatlas for IL7R Gene

Publications for IL7R Gene

  1. Haplotype 4 of the multiple sclerosis-associated interleukin-7 receptor alpha gene influences the frequency of recent thymic emigrants. (PMID: 20072142) Broux B. … Stinissen P. (Genes Immun. 2010) 3 22 46 64
  2. Structural and biophysical studies of the human IL-7/IL-7Ralpha complex. (PMID: 19141282) McElroy C.A. … Walsh S.T. (Structure 2009) 3 4 22 64
  3. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. (PMID: 17660817) Gregory S.G. … Haines J.L. (Nat. Genet. 2007) 3 4 46 64
  4. Genetic polymorphisms in the genes encoding human interleukin-7 receptor-alpha: prognostic significance in allogeneic stem cell transplantation. (PMID: 16435014) Shamim Z. … MA1ller K. (Bone Marrow Transplant. 2006) 3 22 46 64
  5. Organization of the murine and human interleukin-7 receptor genes: two mRNAs generated by differential splicing and presence of a type I- interferon-inducible promoter. (PMID: 2038316) Pleiman C.M. … Ziegler S.F. (Mol. Cell. Biol. 1991) 3 4 22 64

Products for IL7R Gene

Sources for IL7R Gene

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