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IL7R Gene

protein-coding   GIFtS: 67
GCID: GC05P035852

Interleukin 7 Receptor

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 7 Receptor1 2     IL7RA2 5
IL-7R-alpha2 3     CDW1272
IL-7RA2 3     ILRA2
CD127 Antigen2 3     Interleukin 7 Receptor Alpha Chain2
IL-7 Receptor Subunit Alpha2 3     Interleukin 7 Receptor Isoform H5-62
IL-7R Subunit Alpha2 3     Interleukin-7 Receptor Subunit Alpha2
CD1272 5     CDw1273

External Ids:    HGNC: 60241   Entrez Gene: 35752   Ensembl: ENSG000001686857   OMIM: 1466615   UniProtKB: P168713   

Export aliases for IL7R gene to outside databases

Previous GC identifers: GC05P036038 GC05P036923 GC05P035857 GC05P035902 GC05P035892


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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).
(provided by RefSeq, Jul 2008)

GeneCards Summary for IL7R Gene:
IL7R (interleukin 7 receptor) is a protein-coding gene. Diseases associated with IL7R include severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related, and granulomatosis with polyangiitis. GO annotations related to this gene include antigen binding and interleukin-7 receptor activity.

UniProtKB/Swiss-Prot: IL7RA_HUMAN, P16871
Function: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP)

Gene Wiki entry for IL7R (Interleukin-7 receptor-α) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL7R gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL7R promoter sequence
   Search Chromatin IP Primers for IL7R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL7R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13

IL7R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL7R gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P035852:  view genomic region     (about GC identifiers)

Start:
35,852,797 bp from pter      End:
35,879,705 bp from pter
Size:
26,909 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IL7RA_HUMAN, P16871 (See protein sequence)
Recommended Name: Interleukin-7 receptor subunit alpha precursor  
Size: 459 amino acids; 51581 Da
Subunit: The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R
Sequence caution: Sequence=AAH20717.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
3 PDB 3D structures from and Proteopedia for IL7R:
3DI2 (3D)        3DI3 (3D)        3UP1 (3D)    
Secondary accessions: B2RCS6 B4DVT1 Q05CU8 Q6NSP4 Q6NWM0 Q6NWM1 Q6NWM2 Q6NWM3 Q6SV45 Q9UPC1
Alternative splicing: 4 isoforms:  P16871-1   P16871-2   P16871-3   P16871-4   

Explore the universe of human proteins at neXtProt for IL7R: NX_P16871

Explore proteomics data for IL7R at MOPED

Post-translational modifications: 

  • N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form1
  • Glycosylation2 at Asn49, Asn65, Asn151, Asn182, Asn232, Asn233
  • Modification sites at PhosphoSitePlus

  • See IL7R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002176.2  
    ENSEMBL proteins: 
     ENSP00000426426   ENSP00000425538   ENSP00000306157   ENSP00000427688   ENSP00000421207  
     ENSP00000425309   ENSP00000426069   ENSP00000420923   ENSP00000345819  
    Reactome Protein details: P16871

    IL7R Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for IL7R
    Sino Biological Cell Lysate for IL7R
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    Cloud-Clone Corp. Proteins for IL7R

    IL7R Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of IL7R
    R&D Systems Antibodies for IL7R (IL-7 R alpha/CD127)
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    IL7R Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for IL7R
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IL7R
    Cloud-Clone Corp. CLIAs for IL7R


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin 7 receptor
    IL-2 receptor family

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003531 Hempt_rcpt_S_F1_CS

    Graphical View of Domain Structure for InterPro Entry P16871

    ProtoNet protein and cluster: P16871

    1 Blocks protein domain: IPB003531 Short hematopoietin receptor

    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
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    IL7R for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IL7RA_HUMAN, P16871
    Function: Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP)

         Genatlas biochemistry entry for IL7R:
    interleukin 7,receptor (see IL2RG),with a membrane bound and an alternatively spliced secreted form

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding TAS9495344
    GO:0004896cytokine receptor activity ----
    GO:0004917interleukin-7 receptor activity TAS8266077
    GO:0005515protein binding IPI8266077
         
    IL7R for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IL7R:
     Decreased viability of wild-ty 

         4 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Il7r):
     cellular  hematopoietic system  immune system  normal 

    IL7R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IL7R: Il7rtm1Imx Il7rtm1Iku

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL7R
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IL7R

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL7R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL7R

    miRNA
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    miRTarBase miRNAs that target IL7R:
    hsa-mir-26b-5p (MIRT029787)

    Block miRNA regulation of human, mouse, rat IL7R using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate IL7R
    SwitchGear 3'UTR luciferase reporter plasmidIL7R 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IL7R

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    Sino Biological Human cDNA Clone for IL7R
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IL7R

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL7R


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IL7RA_HUMAN, P16871: Isoform 1: Cell membrane; Single-pass type I membrane protein
    IL7RA_HUMAN, P16871: Isoform 3: Cell membrane; Single-pass type I membrane protein
    IL7RA_HUMAN, P16871: Isoform 4: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    nucleus2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    IL7R for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IL7R About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    Glucocorticoid Receptor Signaling0.43
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2IL-9 Signaling Pathways
    IL-7 Signaling Pathways0.90
    IL-7 Signaling Pathway0.40
    3IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types
    B-Cell Development0.00
    IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types
    4TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51
    5Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for IL7R
        IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-7 Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL7R (see all 13)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling
    JAK-STAT Pathway

    2 BioSystems Pathways for IL7R
        IL-7 Signaling Pathway
    TSLP Signaling Pathway


    1 Reactome Pathway for IL7R
        Interleukin-7 signaling


    Selected Kegg Pathways  (Kegg details for IL7R) (see all 6):
        Cytokine-cytokine receptor interaction
    FoxO signaling pathway
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Hematopoietic cell lineage


    IL7R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL7R: 
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Th1/Th2 Response in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL7R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IL7R (P168711, 3 ENSP000003061574) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000018regulation of DNA recombination TAS9495344
    GO:0000902cell morphogenesis IEA--
    GO:0001915negative regulation of T cell mediated cytotoxicity IEA--
    GO:0002377immunoglobulin production IEA--
    GO:0006955immune response TAS9843216

    IL7R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL7R (IL7RA)

    8 Novoseek inferred chemical compound relationships for IL7R gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 42.3 4 9890661 (1), 10414448 (1)
    tyrosine 24.4 30 20144186 (7), 1465444 (5), 1531350 (3), 18566415 (3) (see all 10)
    ionomycin 21.4 2 9334853 (1)
    herbimycin a 18.8 1 7522165 (1)
    phosphatidylinositol 13.5 14 7522165 (4), 12354940 (1), 1465444 (1), 1531350 (1)
    phosphotyrosine 1.73 1 12441142 (1)
    phosphoinositide 0 4 1650261 (2), 14962714 (1)
    heparin 0 2 11564764 (1), 16967044 (1)



    IL7R for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IL7R gene: 
    NM_002185.3  

    Unigene Cluster for IL7R:

    Interleukin 7 receptor
    Hs.591742  [show with all ESTs]
    Unigene Representative Sequence: NM_002185
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508941 ENST00000511031 ENST00000515665 ENST00000303115(uc003jjs.3 uc011cop.2)
    ENST00000514217 ENST00000506850(uc011coo.2) ENST00000511982 ENST00000509668
    ENST00000505093 ENST00000505875 ENST00000343305
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiFast Probe-based Assays in human, mouse, rat IL7R

    Additional mRNA sequence: 

    AF373204.1 AK124429.1 AK301220.1 AK315251.1 AL713738.1 BC020717.1 BC067537.1 BC067538.1 
    BC067539.1 BC067540.1 BC069999.1 M29696.1 

    10 DOTS entries:

    DT.410860  DT.100696943  DT.100647709  DT.120876517  DT.95157727  DT.75102339  DT.95157728  DT.120876512 
    DT.97834870  DT.100738559 

    Selected AceView cDNA sequences (see all 132):

    AA311195 NM_002185 AI289167 BM542940 AI865086 BE551191 BU681146 CN479037 
    AA375597 CB134925 BQ213133 BU627008 AA374049 AI807353 BM756442 BC020717 
    BC067540 AL713738 BG231721 BM771908 BE670579 AI290953 BE217880 BQ231881 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IL7R    About this scheme

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


    ECgene alternative splicing isoforms for IL7R

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL7R expression in normal human tissues (normalized intensities)      IL7R embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATTTATC
    IL7R Expression
    About this image


    IL7R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 11 entries
             Large Pre B-Cells Hematopoietic Bone Marrow
             Regulatory T cells
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 3 Thymocytes Thymus
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     NULL (Uncategorized)
             CD31, CD144 positive cells
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
    IL7R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL7R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591742
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL7R: 
              Th17 Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Th1/Th2 Response in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IL7R
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL7R

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IL7R gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il7r1 , 5 interleukin 7 receptor1, 5 74.56(n)1
    64.91(a)1
      15 (4.16 cM)5
    161971  NM_008372.41  NP_032398.31 
     95061615 
    chicken
    (Gallus gallus)
    Aves IL7R1 interleukin 7 receptor 52.87(n)
    39.14(a)
      426054  NM_001080106.1  NP_001073575.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL7R6
    interleukin 7 receptor
    31(a)
    1 ↔ 1
    GL343241.1(1619291-1651310)
    zebrafish
    (Danio rerio)
    Actinopterygii il7r6
    interleukin 7 receptor
    25(a)
    1 ↔ 1
    21(21381380-21387828) ENSDARG00000078970


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL7R (see all 758)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs14945581,2,,4
    C,F,A,Hpathogenic135804892(-) TGGTGG/ATGTTG 2 /T /I mis1 ese345Minor allele frequency- A:0.34MN NS EA NA WA CSA EU 9857
    rs1939226411,2
    Cpathogenic135811363(+) AACCTA/GCAAAA 2 Y C mis10--------
    rs1048938941,2
    Cpathogenic135814994(+) AGGCTC/TCTTTT 2 P S mis10--------
    rs14945551,2,,4
    C,F,O,A,Hpathogenic135815012(-) ATAGAT/CGACAC 2 /I /V mis1 ese356Minor allele frequency- C:0.30EA NA MN NS WA CSA EU 11760
    rs1048938931,2
    Cpathogenic135817518(+) TTCTGA/GAGTGA 2 * W stg10--------
    rs1480011591,2
    C,Fprobable-pathogenic135804909(+) AATTTG/CAAATA 2 /Q /E mis12Minor allele frequency- C:0.00NA EU 5871
    rs1939226441,2
    Cprobable-pathogenic135817484(+) AGTTCA/G/TATCCA 2 Q R mis10--------
    rs1819435571,2
    --35798846(+) ATAAAC/TTATTA 1 -- us2k10--------
    rs1421466471,2
    --35798879(+) TTTATG/TTGGCT 1 -- us2k10--------
    rs775793891,2
    --35798906(+) TGCCCA/GGAGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IL7R (35852797 - 35879705 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for IL7R:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv6035n71CNV Loss21882294
    nsv880591CNV Loss21882294
    dgv6034n71CNV Loss21882294
    nsv881045CNV Loss21882294
    nsv471011CNV Gain18288195
    nsv483069CNV Gain15286789
    nsv830261CNV Gain17160897

    Human Gene Mutation Database (HGMD): IL7R
    Locus Specific Mutation Databases (LSDB): IL7R

    2 Site Specific Mutation Identification with PCR Assays for IL7R:
    Cosmic IdAA Change
    131562p.S185C
    131582p.E237_L242>ASWC
    SeqTarget long-range PCR primers for resequencing IL7R
    DNA2.0 Custom Variant and Variant Library Synthesis for IL7R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 146661   
    OMIM disorders: 608971  
    UniProtKB/Swiss-Prot: IL7RA_HUMAN, P16871
  • 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

  • Selected diseases for IL7R (see all 67):    About MalaCards
    severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related    granulomatosis with polyangiitis    thyroid lymphoma    paresthesia
    severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive    primary progressive multiple sclerosis    pre-b-cell acute lymphoblastic leukemia    severe combined immunodeficiency
    lymphopenia    eczema herpeticum    omenn syndrome    hypersplenism
    optic neuritis    neuritis    human immunodeficiency virus infectious disease    vogt-koyanagi-harada disease
    primary biliary cirrhosis    cblc    leukopenia    hepatitis b virus infection

    4 diseases from the University of Copenhagen DISEASES database for IL7R:
    Multiple sclerosis     Severe combined immunodeficiency     Human immunodeficiency virus infectious disease     Lymphopenia

    IL7R for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for IL7R gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    severe combined immunodeficiency, x-linked 67.1 2 7865464 (1), 10098325 (1)
    severe combined immunodeficiency 62.3 11 20021794 (2), 15615257 (2), 14726805 (1), 16418296 (1) (see all 7)
    lymphopenia 48.9 3 19372891 (1), 17201233 (1), 19690616 (1)
    multiple sclerosis 48.7 30 17660816 (3), 20187771 (2), 17928869 (2), 18721276 (2) (see all 17)
    hiv infections 48.3 22 16421946 (3), 18964017 (3), 18390743 (2), 11744834 (2) (see all 11)
    lymphoblastic leukemia acute 45.5 8 1650261 (2), 20060740 (1), 1378163 (1), 8709637 (1) (see all 5)
    immunodeficiency 38.8 8 7805718 (1), 20060740 (1), 18279439 (1), 19864382 (1) (see all 6)
    virus infection 37.6 10 16537621 (3), 17182670 (1), 19011158 (1), 20201040 (1) (see all 7)
    t-all 36.5 9 12145696 (2), 20459861 (2), 14607751 (2)
    leukemia 34.1 9 11052810 (2), 19047679 (1), 16435014 (1), 11858939 (1)

    Genetic Association Database (GAD): IL7R
    Human Genome Epidemiology (HuGE) Navigator: IL7R (58 documents)

    Export disorders for IL7R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IL7R gene, integrated from 10 sources (see all 397):
    (articles sorted by number of sources associating them with IL7R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. (PubMed id 17660817)1, 2, 4, 9 Gregory S.G.... Haines J.L. (Nat. Genet. 2007)
    2. Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily. (PubMed id 2317865)1, 2, 3 Goodwin R.G.... Park L.S. (Cell 1990)
    3. Genetic polymorphisms in the genes encoding human interleukin-7 receptor-alpha: prognostic significance in allogeneic stem cell transplantation. (PubMed id 16435014)1, 4, 9 Shamim Z....MA1ller K. (Bone Marrow Transplant. 2006)
    4. Haplotype 4 of the multiple sclerosis-associated interleukin-7 receptor alpha gene influences the frequency of recent thymic emigrants. (PubMed id 20072142)1, 4, 9 Broux B....Stinissen P. (Genes Immun. 2010)
    5. Structural and biophysical studies of the human IL-7/IL-7Ralpha complex. (PubMed id 19141282)1, 2, 9 McElroy C.A.... Walsh S.T. (Structure 2009)
    6. The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis. (PubMed id 18721276)1, 4, 9 Alcina A....Matesanz F. (Tissue Antigens 2008)
    7. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. (PubMed id 14726805)1, 4, 9 Kalman L....Buckley R. (Genet. Med. 2004)
    8. 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. (PubMed id 2038316)1, 2, 9 Pleiman C.M....Ziegler S.F. (Mol. Cell. Biol. 1991)
    9. Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans. (PubMed id 20194581)1, 4, 9 StankoviA8 A....ZivkoviA8 M. (Mult. Scler. 2010)
    10. IL7RA polymorphisms and chronic inflammatory arthropathies. (PubMed id 19744146)1, 4, 9 O'Doherty C....Vandenbroeck K. (Tissue Antigens 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3575 HGNC: 6024 AceView: IL7R Ensembl:ENSG00000168685 euGenes: HUgn3575
    ECgene: IL7R Kegg: 3575 H-InvDB: IL7R

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IL7R Pharmacogenomics, SNPs, Pathways
    IL7Rbasehttp://bioinf.uta.fi/IL7Rbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IL7R[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/il7r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL7R gene:
    Search GeneIP for patents involving IL7R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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