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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IL7R Gene

protein-coding   GIFtS: 66
GCID: GC05P035892

Interleukin 7 Receptor

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 thyroid lymphoma, and among its related super-pathways are STAT3 Pathway and IL-9 Signaling Pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IL7R gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC05P035892:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

  • UniProtKB: N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16871

  • IL7R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IL7R Protein Expression
    REFSEQ proteins: NP_002176.2  
    ENSEMBL proteins: 
     ENSP00000426426   ENSP00000425538   ENSP00000306157   ENSP00000427688   ENSP00000421207  
     ENSP00000425309   ENSP00000426069   ENSP00000420923   ENSP00000345819  
    Reactome Protein details: P16871
    Human Recombinant Protein Products for IL7R: 
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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 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 to membrane IEA--

    IL7R for ontologies           About GeneDecksing



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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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: Il7rtm1Iku Il7rtm1Imx

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IL7R 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IL7R 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IL7R About   (see all 16)                                                                                              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
    2Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-7 Signaling Pathways0.90
    IL-7 Signaling Pathway0.40
    3Signaling by Interleukins
    B-Cell Development0.50
    IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types0.33
    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

    5/13 Downloadable PowerPoint Slides of QIAGEN 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


    4        Reactome Pathways for IL7R
        Interleukin-7 signaling
    Cytokine Signaling in Immune system
    Signaling by Interleukins
    Immune System


    5         Kegg Pathways  (Kegg details for IL7R):
        Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Hematopoietic cell lineage
    Primary immunodeficiency


    IL7R for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IL7R

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

    5/155 Interacting proteins for IL7R (P168711, 3 ENSP000003061574) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    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): 5/16 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IL7R for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about IL7R / IL7RA

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/132 AceView cDNA sequences (see all 132):

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

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/18 selected tissues (see all 18) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 13 entries
             Small Pre B-Cells Hematopoietic Bone Marrow
             Regulatory T cells
             Peripheral blood Pan-T Cells   
     
     Thymus (Hematopoietic System)    fully expand to see all 3 entries
             Double Negative 3 Thymocytes Thymus
             Thymus   
     
     Fibroblast (Uncategorized)    fully expand to see all 3 entries
             Human Prostate Fibroblasts (HPrF)   
     
     Lymph (Cardiovascular System)    fully expand to see all 2 entries
             Human Lymphatic Fibroblasts (HLF)   
             Lymphnode   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Cumulus Cells Antral Follicle
             Human Ovarian Fibroblasts (HOF)   

    See IL7R Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IL7R

    SOURCE GeneReport for Unigene cluster: Hs.591742
        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IL7R gene from 4/10 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 51.77(n)
    38.15(a)
      426054  NM_001080106.1  NP_001073575.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL7R6
    interleukin 7 receptor
    30(a)
    1 ↔ 1
    GL343241.1(1619291-1651310)
    zebrafish
    (Danio rerio)
    Actinopterygii il7r6
    interleukin 7 receptor
    26(a)
    1 ↔ 1
    21(21381380-21387828)


    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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/758 SNPs in IL7R are shown (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--------
    VAR_0348704
    ----see VAR_0348702 P S mis40--------
    rs1819435571,2
    --35798846(+) ATAAAC/TTATTA 1 -- us2k10--------
    rs1421466471,2
    --35798879(+) TTTATG/TTGGCT 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 SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/55 diseases for IL7R (see all 55):    About MalaCards
    severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related    thyroid lymphoma    paresthesia    severe combined immunodeficiency
    lymphopenia    eczema herpeticum    omenn syndrome    optic neuritis
    neuritis    eczema    acute lymphoblastic leukemia    human immunodeficiency virus infectious disease
    lymphoblastic leukemia    cblc    leukopenia    hepatitis b virus infection
    multiple sclerosis    tetanus    primary biliary cirrhosis    cutaneous t cell lymphoma

    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

    10/25 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)
    About This Section

    PubMed articles for IL7R gene, integrated from 9 sources (see all 393):
    (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. (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. (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....Muller K. (2006)
    4. Haplotype 4 of the multiple sclerosis-associated inte rleukin-7 receptor alpha gene influences the frequency of recent thymic emigran ts. (PubMed id 20072142)1, 4, 9 Broux B....Stinissen P. (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. (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. (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. (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. (1991)
    9. Interleukin 7 receptor alpha polymorphism rs6897932 a nd susceptibility to multiple sclerosis in the Western Balkans. (PubMed id 20194581)1, 4, 9 StankoviA8 A....ZivkoviA8 M. (2010)
    10. IL7RA polymorphisms and chronic inflammatory arthropa thies. (PubMed id 19744146)1, 4, 9 O'Doherty C....Vandenbroeck K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3575 HGNC: 6024 AceView: IL7R Ensembl:ENSG00000168685 euGenes: HUgn3575
    ECgene: IL7R Kegg: 3575 H-InvDB: IL7R

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IL7R Pharmacogenomics, SNPs, Pathways
    IL7Rbasehttp://bioinf.uta.fi/IL7Rbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL7R
    SeattleSNPshttp://pga.gs.washington.edu/data/il7r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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