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Aliases for IL7R Gene

Aliases for IL7R Gene

  • Interleukin 7 Receptor 2 3
  • 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
  • IL-7RA 3 4
  • CD127 3 6
  • IL7RA 3 6
  • Interleukin-7 Receptor Subunit Alpha 3
  • Interleukin 7 Receptor Isoform H5-6 3
  • Interleukin 7 Receptor Alpha Chain 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 interleukine 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 interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2014]

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 immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related. Among its related pathways are PI3K-Akt signaling pathway and Akt Signaling. 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

Transcription factor binding sites by QIAGEN in the IL7R gene promoter:

Genomic Location for IL7R Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for IL7R Gene at MOPED

Post-translational modifications for IL7R Gene

  • N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.
  • Glycosylation at Asn49, Asn65, Asn151, Asn182, Asn232, and Asn233
  • Modification sites at PhosphoSitePlus

Other Protein References for IL7R Gene

Antibody Products

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

Protein Products

No data available for DME Specific Peptides for IL7R Gene

Domains for IL7R Gene

Gene Families for IL7R Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
  • IL :Interleukins and interleukin receptors
IUPHAR :

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 :
  • P16871
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 --
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

Animal Models for IL7R Gene

MGI Knock Outs for IL7R:

Animal Model Products

CRISPR Products

miRNA for IL7R Gene

miRTarBase miRNAs that target IL7R

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IL7R

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 2
cytosol 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 TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL7R: view

Pathways for IL7R Gene

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

PCR Array Products

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

Compounds for IL7R Gene

(8) Novoseek inferred chemical compound relationships for IL7R Gene

Compound -log(P) Hits PubMed IDs
gp 130 42.3 2
tyrosine 24.4 27
ionomycin 21.4 1
herbimycin a 18.8 1
phosphatidylinositol 13.5 7
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IL7R

Primer Products

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 (11.1), Lung (8.1), Small Intestine - Terminal Ileum (7.0), and Spleen (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IL7R Gene

SOURCE GeneReport for Unigene cluster for IL7R Gene Hs.591742

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

In Situ Assay 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 35
  • 99.35 (n)
  • 98.69 (a)
IL7R 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IL7R 35
  • 82.46 (n)
  • 75.76 (a)
IL7R 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL7R 35
  • 83.52 (n)
  • 77.8 (a)
IL7R 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il7r 35
  • 74.56 (n)
  • 64.91 (a)
Il7r 16
Il7r 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL7R 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL7R 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il7r 35
  • 75.37 (n)
  • 66.45 (a)
chicken
(Gallus gallus)
Aves IL7R 35
  • 52.87 (n)
  • 39.14 (a)
IL7R 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL7R 36
  • 31 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii il7r 36
  • 25 (a)
OneToOne
Species with no ortholog for IL7R:
  • 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 MAF
rs700179 -- 35,879,493(+) GATTT(A/C/G/T)ACCGT utr-variant-3-prime, nc-transcript-variant
rs969128 -- 35,861,057(+) TTTTA(A/G)TAGCC intron-variant
rs969129 -- 35,861,166(+) ACAAA(G/T)CTCCT intron-variant
rs987106 -- 35,875,491(-) ATTGA(A/T)AGATG intron-variant
rs987107 -- 35,875,125(-) ACTGA(C/T)AGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483069 CNV Gain 15286789
dgv6034n71 CNV Loss 21882294
dgv6035n71 CNV Loss 21882294
nsv881045 CNV Loss 21882294
nsv880591 CNV Loss 21882294
nsv471011 CNV Gain 18288195
nsv830261 CNV Gain 17160897

Relevant External Links for IL7R Gene

HapMap Linkage Disequilibrium report
IL7R
Human Gene Mutation Database (HGMD)
IL7R
Locus Specific Mutation Databases (LSDB)
IL7R

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

Disorders for IL7R Gene

(1) OMIM Diseases for IL7R Gene (146661)

UniProtKB/Swiss-Prot

IL7RA_HUMAN
  • 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.
  • 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.

(25) Novoseek inferred disease relationships for IL7R Gene

Disease -log(P) Hits PubMed IDs
severe combined immunodeficiency, x-linked 67.1 2
severe combined immunodeficiency 62.3 9
lymphopenia 48.9 3
multiple sclerosis 48.7 24
hiv infections 48.3 17

Relevant External Links for IL7R

Genetic Association Database (GAD)
IL7R
Human Genome Epidemiology (HuGE) Navigator
IL7R
genes like me logo Genes that share disorders with IL7R: view

Publications for IL7R Gene

  1. 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 23 48
  2. The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis. (PMID: 18721276) Alcina A. … Matesanz F. (Tissue Antigens 2008) 3 23 48
  3. Structural and biophysical studies of the human IL-7/IL-7Ralpha complex. (PMID: 19141282) McElroy C.A. … Walsh S.T. (Structure 2009) 3 4 23
  4. Risk alleles for multiple sclerosis identified by a genomewide study. (PMID: 17660530) . … Hauser S.L. (N. Engl. J. Med. 2007) 3 23 48
  5. IL7RA polymorphisms and chronic inflammatory arthropathies. (PMID: 19744146) O'Doherty C. … Vandenbroeck K. (Tissue Antigens 2009) 3 23 48

Products for IL7R Gene

Sources for IL7R Gene

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