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IL11RA Gene

protein-coding   GIFtS: 60
GCID: GC09P034650

Interleukin 11 Receptor, Alpha

  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)
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Aliases
Interleukin 11 Receptor, Alpha1 2     Interleukin-11 Receptor Alpha Chain2
IL-11 Receptor Subunit Alpha2 3     Interleukin-11 Receptor Subunit Alpha2
IL-11R Subunit Alpha2 3     IL-11R-alpha3
CRSDA2 5     IL-11RA3

External Ids:    HGNC: 59671   Entrez Gene: 35902   Ensembl: ENSG000001370707   OMIM: 6009395   UniProtKB: Q146263   

Export aliases for IL11RA gene to outside databases

Previous GC identifers: GC09P034966 GC09P034820 GC09P034640 GC09P034643


(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 IL11RA Gene:
Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines
that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor,
which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to
ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an
immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript
variants have been found for this gene. (provided by RefSeq, Jun 2012)

GeneCards Summary for IL11RA Gene:
IL11RA (interleukin 11 receptor, alpha) is a protein-coding gene. Diseases associated with IL11RA include craniosynostosis and dental anomalies, and cartilage-hair hypoplasia. GO annotations related to this gene include cytokine receptor activity and signal transducer activity. An important paralog of this gene is ENSG00000258728.

UniProtKB/Swiss-Prot: I11RA_HUMAN, Q14626
Function: Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize
IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of
proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the
normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number

Gene Wiki entry for IL11RA (Interleukin 11 receptor alpha subunit) 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_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL11RA gene promoter:
         p53   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL11RA promoter sequence
   Search Chromatin IP Primers for IL11RA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL11RA


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

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

IL11RA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL11RA gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P034650:  view genomic region     (about GC identifiers)

Start:
34,650,699 bp from pter      End:
34,661,889 bp from pter
Size:
11,191 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: I11RA_HUMAN, Q14626 (See protein sequence)
Recommended Name: Interleukin-11 receptor subunit alpha precursor  
Size: 422 amino acids; 45222 Da
Subunit: On ligand binding, forms a multimer complex with IL6ST/gp130
Secondary accessions: Q16542 Q5VZ80 Q7KYJ7
Alternative splicing: 2 isoforms:  Q14626-1   Q14626-2   (Lacks the entire cytoplasmic domain)

Explore the universe of human proteins at neXtProt for IL11RA: NX_Q14626

Explore proteomics data for IL11RA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn127, Asn194

  • See IL11RA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001136256.1  
    ENSEMBL proteins: 
     ENSP00000450565   ENSP00000450707   ENSP00000394391   ENSP00000452207   ENSP00000450543  
     ENSP00000326500   ENSP00000451553   ENSP00000451447   ENSP00000450640   ENSP00000473647  
     ENSP00000432263   ENSP00000368094  

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    Novus Biologicals IL11RA Lysates
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    Sino Biological Cell Lysate for IL11RA
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    Browse Proteins at Cloud-Clone Corp.

    IL11RA Antibody Products:

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    Abcam antibodies for IL11RA
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    LSBio Antibodies in human, mouse, rat for IL11RA

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-11 receptor, alpha subunit
    IL-6 receptor family

    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR003530 Hematopoietin_rcpt_L_F3_CS
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q14626

    ProtoNet protein and cluster: Q14626

    1 Blocks protein domain: IPB003530 Long hematopoietin receptor

    UniProtKB/Swiss-Prot: I11RA_HUMAN, Q14626
    Similarity: Belongs to the type I cytokine receptor family. Type 3 subfamily
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    IL11RA 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: I11RA_HUMAN, Q14626
    Function: Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize
    IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of
    proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the
    normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number

         Genatlas biochemistry entry for IL11RA:
    interleukin 11,receptor,alpha chain with two alternatively spliced forms A1,A2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS8786120
    GO:0004888transmembrane signaling receptor activity TAS7670098
    GO:0004896cytokine receptor activity IEA--
    GO:0005515protein binding ----
         
    IL11RA for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Il11ra1):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size/body  hematopoietic system 
     immune system  mortality/aging  other  reproductive system 

    IL11RA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IL11RA: Il11ra1tm2Gos Il11ra1tm1Gos Il11ra1tm1Wehi

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL11RA
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IL11RA

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    miRTarBase miRNAs that target IL11RA:
    hsa-mir-346 (MIRT004237)

    Block miRNA regulation of human, mouse, rat IL11RA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate IL11RA:
    hsa-miR-1226 hsa-miR-634 hsa-miR-130b* hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidIL11RA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IL11RA

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IL11RA

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL11RA


    (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
    I11RA_HUMAN, Q14626: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    lysosome1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS7670098
    GO:0016020membrane ----

    IL11RA 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 IL11RA About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    3TGF-Beta Pathway
    MAPK Family Pathway0.60
    4PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    5ERK Signaling
    Molecular Mechanisms of Cancer0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL11RA (see all 7)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling
    Akt Signaling

    1 BioSystems Pathway for IL11RA
        Interleukin-11 Signaling Pathway



    3 Kegg Pathways  (Kegg details for IL11RA):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Hematopoietic cell lineage


    IL11RA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL11RA: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for IL11RA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for IL11RA (Q146263 ENSP000003265004) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL6STP401893, ENSP000003387994I2D: score=1 STRING: ENSP00000338799
    IL11P208093, ENSP000002645634I2D: score=3 STRING: ENSP00000264563
    CBLENSP000002640334STRING: ENSP00000264033
    CBLBENSP000002641224STRING: ENSP00000264122
    CBLCENSP000002702794STRING: ENSP00000270279
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS7670098
    GO:0032502developmental process IMP--
    GO:0060322head development IMP--

    IL11RA 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 IL11RA (I11RA)

    1 DrugBank Compound for IL11RA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    OprelvekinAdipogenesis inhibitory factor (see all 4)145941-26-0targetagonist9310465 11752352 8637716 11012177 8676079 11570967

    1 Novoseek inferred chemical compound relationship for IL11RA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 82.7 23 11161848 (4), 10504396 (3), 16718787 (3), 20008143 (3) (see all 7)



    IL11RA 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 IL11RA gene (3 alternative transcripts): 
    NM_001142784.2  NM_004512.3  NM_147162.1  

    Unigene Cluster for IL11RA:

    Interleukin 11 receptor, alpha
    Hs.591088  [show with all ESTs]
    Unigene Representative Sequence: BC003110
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555003(uc003zvi.3) ENST00000555247 ENST00000441545(uc011loq.2)
    ENST00000553620 ENST00000556792 ENST00000318041(uc003zvk.3 uc010mke.3)
    ENST00000478308 ENST00000557298 ENST00000556531 ENST00000555981 ENST00000555579
    ENST00000478802 ENST00000602473 ENST00000553969 ENST00000466082 ENST00000378817(uc003zvj.3)

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    hsa-miR-1226 hsa-miR-634 hsa-miR-130b* hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidIL11RA 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat IL11RA

    Additional mRNA sequence: 

    AK075530.1 AK292073.1 BC003110.1 BT009864.1 NR_052010.1 U32324.1 Z38102.1 Z46595.1 

    24 DOTS entries:

    DT.414418  DT.416078  DT.100790058  DT.91649044  DT.40132520  DT.121165467  DT.40304433  DT.65286445 
    DT.100745523  DT.100818549  DT.121165543  DT.427832  DT.75103202  DT.100037339  DT.100790060  DT.100800724 
    DT.121165423  DT.121165518  DT.121165524  DT.429340  DT.91953599  DT.95246650  DT.95246653  DT.97804333 

    Selected AceView cDNA sequences (see all 27):

    AI873817 AI264000 R02708 AI822143 AA831280 AA514332 AA425624 AA426233 
    BE262666 AA721361 AI184859 AW581150 CD618875 BQ710528 BF347226 AW189741 
    BI770804 AW189494 N77941 AA495792 AI377039 AI970671 R02590 CD618874 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IL11RA (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
    SP1:        -     -     -     -     -     -                       -                       -                                         -               
    SP2:                                -     -                       -                                                                 -               
    SP3:                                -     -                       -                       -                                         -               
    SP4:                                                              -                       -                                                         
    SP5:              -     -     -     -     -                       -                       -                                                         


    ECgene alternative splicing isoforms for IL11RA

    (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)
    About This Section

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    IL11RA expression in normal human tissues (normalized intensities)      IL11RA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IL11RA Expression
    About this image


    IL11RA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Peripheral Blood
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
     
     Bone (Muscoskeletal System)
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
    IL11RA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL11RA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591088

    UniProtKB/Swiss-Prot: I11RA_HUMAN, Q14626
    Tissue specificity: Expressed in a number of cell lines, including the myelogenous leukemia cell line K-562, the
    megakaryocytic leukemia cell line M-07e, the erythroleukemia cell line TF-1, and the osteosarcoma cell lines,
    MG-63 and SaOS-2. Also expressed in normal and malignant prostate epithelial cell lines. Expression levels are
    increased in prostate carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL11RA: 
              Interferons & Receptors 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 IL11RA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL11RA

    (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 IL11RA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il11ra11 , 5 interleukin 11 receptor, alpha chain 11, 5 83.89(n)1
    83.89(a)1
      4 (21.94 cM)5
    161571  NM_010549.31  NP_034679.11 
     416999895 
    chicken
    (Gallus gallus)
    Aves IL11RA1 interleukin 11 receptor, alpha 58.97(n)
    50.86(a)
      693251  NM_001044674.1  NP_001038139.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    47(a)
    1 → many
    GL343552.1(392719-576144)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia il11ra1 interleukin 11 receptor, alpha 54.35(n)
    48.28(a)
      100101801  NM_001100282.1  NP_001093752.1 
    zebrafish
    (Danio rerio)
    Actinopterygii il11ra1 interleukin 11 receptor, alpha 44.35(n)
    33.62(a)
      334010  NM_001113499.1  NP_001106971.1 


    ENSEMBL Gene Tree for IL11RA (if available)
    TreeFam Gene Tree for IL11RA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IL11RA gene
    ENSG000002587282  IL6R2  EBI32  CNTFR2  

    IL11RA for paralogs           About GeneDecksing



    (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 IL11RA (see all 321)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666664
    Craniosynostosis and dental anomalies (CRSDA)4--see VAR_0666662 P R mis40--------
    VAR_0666684
    Craniosynostosis and dental anomalies (CRSDA)4--see VAR_0666682 R W mis40--------
    VAR_0666674
    Craniosynostosis and dental anomalies (CRSDA)4--see VAR_0666672 S C mis40--------
    rs1832517791,2
    --34619037(+) ATAGCA/GTTAAT 1 -- us2k10--------
    rs735010241,2
    C,F--34619079(+) CTCTAA/GTATCA 1 -- us2k12Minor allele frequency- G:0.01WA 120
    rs1159850831,2
    F--34619080(+) TCTAAT/CATCAG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs28123451,2
    C,F,H--34619542(+) GGGAGC/TGTGTA 1 -- us2k1 ese311Minor allele frequency- T:0.04NS EA NA CSA WA 1212
    rs1861523051,2
    --34619593(+) GCGGGC/TACCAT 1 -- us2k10--------
    rs1381957211,2
    --34619627(+) CAATCA/GTTGCA 1 -- us2k10--------
    rs779649921,2
    C,F--34619840(+) AGGCAA/C/TTGTGA 1 -- us2k12WA NA 238

    HapMap Linkage Disequilibrium report for IL11RA (34650699 - 34661889 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IL11RA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893038CNV Loss21882294
    nsv818699CNV Gain17921354
    nsv831544CNV Gain17160897

    Human Gene Mutation Database (HGMD): IL11RA
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing IL11RA:
    Prostate Cancer
    SeqTarget long-range PCR primers for resequencing IL11RA
    DNA2.0 Custom Variant and Variant Library Synthesis for IL11RA

    (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: 600939   
    OMIM disorders: 614188  
    UniProtKB/Swiss-Prot: I11RA_HUMAN, Q14626
  • Craniosynostosis and dental anomalies (CRSDA) [MIM:614188]: A disorder characterized by craniosynostosis,
    maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or
    supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for IL11RA (see all 33):    About MalaCards
    craniosynostosis and dental anomalies    cartilage-hair hypoplasia    cblc    molluscum contagiosum
    megakaryocytic leukemia    silicosis    craniosynostosis    endometrial adenocarcinoma
    syndactyly    b-cell chronic lymphocytic leukemia    keloids    chronic lymphocytic leukemia
    thrombocytopenia    multiple myeloma    childhood leukemia    thyroid cancer
    endometriosis    endometrial carcinoma    acute leukemia    meningioma

    1 disease from the University of Copenhagen DISEASES database for IL11RA:
    cartilage-hair hypoplasia

    IL11RA for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for IL11RA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 40.6 1 11545164 (1)
    colorectal carcinoma 34.2 1 16482637 (1)
    adenoma 21.9 4 16482637 (2), 16292518 (2)
    adenocarcinoma 7.95 8 16482637 (5), 17332920 (1)
    tumors 4.41 5 16964382 (2), 17332920 (1), 19244100 (1), 16482637 (1)
    necrosis 0 1 16718787 (1)
    carcinoma 0 5 16482637 (2), 16292518 (2), 17332920 (1)
    cancer 0 2 19244100 (1)

    Genetic Association Database (GAD): IL11RA
    Human Genome Epidemiology (HuGE) Navigator: IL11RA (11 documents)

    Export disorders for IL11RA 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 IL11RA gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with IL11RA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of two isoforms of a receptor for the human hematopoietic cytokine interleukin-11. (PubMed id 7670098)1, 2, 3 Cherel M.... Jacques Y. (Blood 1995)
    2. Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13. (PubMed id 8808281)1, 2, 9 Van Leuven F....Gossler A. (Genomics 1996)
    3. Increased expression of the interleukin-11 receptor and evidence of STAT3 activation in prostate carcinoma. (PubMed id 11141475)1, 2, 9 Campbell C.L.... Savarese T.M. (Am. J. Pathol. 2001)
    4. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients. (PubMed id 11498264)1, 4 Niino M....Tashiro K. (J. Neuroimmunol. 2001)
    9. Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group. (PubMed id 11315919)1, 4 Donn R.P....Thomson W. (Arthritis Rheum. 2001)
    10. Polymorphisms of the IL-1 gene complex in coal miners with silicosis. (PubMed id 11241561)1, 4 Yucesoy B....Luster M.I. (Am. J. Ind. Med. 2001)

    (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: 3590 HGNC: 5967 AceView: IL11RA Ensembl:ENSG00000137070 euGenes: HUgn3590
    ECgene: IL11RA Kegg: 3590 H-InvDB: IL11RA

    (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)
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    NameDescription
    PharmGKB entry for IL11RA Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/il11ra/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL11RA gene:
    Search GeneIP for patents involving IL11RA

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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