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IL17RD Gene

protein-coding   GIFtS: 59
GCID: GC03M057124

Interleukin 17 Receptor D

  See IL17RD-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 17 Receptor D1 2     IL17Rhom2 3
SEF2 3 5     hSef2 3
Interleukin-17 Receptor-Like Protein2 3     IL-17 Receptor D2 3
Sef Homolog2 3     HH182 5
IL-17RD2 3     Interleukin-17 Receptor D2
IL17RLM2 3     

External Ids:    HGNC: 176161   Entrez Gene: 547562   Ensembl: ENSG000001447307   OMIM: 6068075   UniProtKB: Q8NFM73   

Export aliases for IL17RD gene to outside databases

Previous GC identifers: GC03M056983 GC03M057085 GC03M057103


(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 IL17RD Gene:
This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded
protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein
and IL-17R does not require the interleukin (PMID: 19079364). The gene product also affects fibroblast growth
factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling (PMID: 21663947, 18096367).
(provided by RefSeq, Nov 2011)

GeneCards Summary for IL17RD Gene:
IL17RD (interleukin 17 receptor D) is a protein-coding gene. Diseases associated with IL17RD include hypogonadotropic hypogonadism 18 with or without anosmia, and polyploidy.

UniProtKB/Swiss-Prot: I17RD_HUMAN, Q8NFM7
Function: Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May
inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially
blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates
JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of
GnRH-secreting neurons (By similarity)




(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 at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL17RD gene promoter:
         C/EBPbeta   AML1a   p53   Pbx1a   POU6F1 (c2)   Nkx2-5   C/EBPalpha   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL17RD promoter sequence
   Search Chromatin IP Primers for IL17RD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL17RD


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

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p21.1

IL17RD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL17RD gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M057124:  view genomic region     (about GC identifiers)

Start:
57,124,010 bp from pter      End:
57,204,334 bp from pter
Size:
80,325 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: I17RD_HUMAN, Q8NFM7 (See protein sequence)
Recommended Name: Interleukin-17 receptor D precursor  
Size: 739 amino acids; 82411 Da
Subunit: Interacts with MAP3K7 (By similarity). Self-associates. Interacts with FGFR1, FGFR2 and phosphorylated
MAP2K1 or MAP2K2. Associates with a MAP2K1/2-MAPK1/3 complex
Secondary accessions: Q2NKP7 Q58EZ7 Q6RVF4 Q6UWI5 Q8N113 Q8NFS0 Q9UFA0
Alternative splicing: 4 isoforms:  Q8NFM7-1   Q8NFM7-2   Q8NFM7-3   Q8NFM7-4   

Explore the universe of human proteins at neXtProt for IL17RD: NX_Q8NFM7

Explore proteomics data for IL17RD at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn19, Asn55, Asn62, Asn80, Asn137, Asn171, Asn206, Asn277
  • Modification sites at PhosphoSitePlus

  • See IL17RD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060033.3  
    ENSEMBL proteins: 
     ENSP00000296318   ENSP00000322250   ENSP00000417516   ENSP00000418368   ENSP00000399209  
    Reactome Protein details: Q8NFM7

    IL17RD Human Recombinant Protein Products:

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    antibodies-online proteins for IL17RD (8 products) 

     
    antibodies-online peptides for IL17RD

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    antibodies-online antibodies for IL17RD (41 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-17 receptor D
    IL-17 receptor family

    2 InterPro protein domains:
     IPR000157 TIR_dom
     IPR013568 SEFIR

    Graphical View of Domain Structure for InterPro Entry Q8NFM7

    ProtoNet protein and cluster: Q8NFM7

    1 Blocks protein domain: IPB013568 SEFIR

    UniProtKB/Swiss-Prot: I17RD_HUMAN, Q8NFM7
    Similarity: Contains 1 SEFIR domain


    Find genes that share domains with IL17RD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: I17RD_HUMAN, Q8NFM7
    Function: Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May
    inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially
    blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates
    JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of
    GnRH-secreting neurons (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with IL17RD           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for IL17RD:
     Cell cycle / mitosis defect  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Il17rd):
     hearing/vestibular/ear  nervous system  normal 

    Find genes that share phenotypes with IL17RD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Il17rdtm1Sla for IL17RD

       genOway: Develop your customized and physiologically relevant rodent model for IL17RD

    miRNA
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    miRTarBase miRNAs that target IL17RD:
    hsa-mir-193b-3p (MIRT041267), hsa-mir-335-5p (MIRT016839)

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    Selected qRT-PCR Assays for microRNAs that regulate IL17RD (see all 60):
    hsa-miR-2052 hsa-miR-4291 hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-193a-3p hsa-miR-19b-2* hsa-miR-106a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    I17RD_HUMAN, Q8NFM7: Golgi apparatus membrane; Single-pass type I membrane protein. Cell membrane; Single-pass
    type I membrane protein. Note=Predominantly associated with the Golgi apparatus and is partially translocated to
    the plasma membrane upon stimulation
    I17RD_HUMAN, Q8NFM7: Isoform 4: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane5
    nucleus3
    extracellular2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with IL17RD           About GenesLikeMe


    (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 IL17RD About    
    See pathways by source

    SuperPathContained pathways About
    1IL-17 Family Signaling Pathways
    IL-17 Family Signaling Pathways0.51
    IL17 signaling pathway0.51
    2Signaling by FGFR
    Signaling by FGFR0.91
    Signaling by FGFR in disease0.91
    3Signaling by GPCR
    Signal Transduction0.58
    4FGF signaling pathway
    FGF signaling pathway
    5Disease
    Disease


    Find genes that share SuperPaths with IL17RD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IL17RD
        IL-17 Family Signaling Pathways


    2 BioSystems Pathways for IL17RD
        IL17 signaling pathway
    FGF signaling pathway


    1 Reactome Pathway for IL17RD
        Signaling by FGFR


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IL17RD
    Interactions:

        GeneGlobe Interaction Network for IL17RD

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for IL17RD (Q8NFM73 ENSP000002963184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K7O433183, ENSP000003583354I2D: score=1 STRING: ENSP00000358335
    IL17RAQ96F463I2D: score=2 
    IL17RBQ9NRM63I2D: score=1 
    TRAF6Q9Y4K33I2D: score=1 
    FGFR1ENSP000003802804STRING: ENSP00000380280
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--

    Find genes that share ontologies with IL17RD           About GenesLikeMe



    (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 IL17RD (I17RD)

    1 Novoseek inferred chemical compound relationship for IL17RD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 41.1 3 17980404 (1), 17420726 (1), 17266935 (1)



    Find genes that share compounds with IL17RD           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IL17RD gene: 
    NM_017563.3  

    Unigene Cluster for IL17RD:

    Interleukin 17 receptor D
    Hs.150725  [show with all ESTs]
    Unigene Representative Sequence: NM_017563
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296318(uc003dik.3 uc003dil.3 uc010hna.3) ENST00000320057
    ENST00000463523 ENST00000469841(uc011bex.1) ENST00000467210 ENST00000479825
    ENST00000498471 ENST00000427856
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IL17RD (see all 60):
    hsa-miR-2052 hsa-miR-4291 hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-193a-3p hsa-miR-19b-2* hsa-miR-106a
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      QuantiTect SYBR Green Assays in human, mouse, rat IL17RD
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    Additional mRNA sequence: 

    AF458067.1 AF494208.1 AF494211.1 AK001251.1 AK092579.1 AK093074.1 AK125591.1 AK302045.1 
    AL133097.1 AL833913.1 AY358774.1 AY489047.1 BC038369.1 BC111702.1 

    3 DOTS entries:

    DT.91956324  DT.100045072  DT.100880955 

    Selected AceView cDNA sequences (see all 77):

    AI244480 AL705455 BQ017683 AI632165 AU124473 CA417359 AW197455 Z46213 
    AI825305 AA908296 NM_017563 AL133097 BQ277794 Z41840 AA383578 AF494208 
    AA236352 AF494211 AI088588 AI206993 AW445096 AI921938 AI090949 AK125591 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for IL17RD    About this scheme

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


    ECgene alternative splicing isoforms for IL17RD

    (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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    IL17RD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGTCCAG
    IL17RD Expression
    About this image


    IL17RD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Tendon & Ligament
             Tendon Progenitor Cells Syndetome
     
     Somite (Muscoskeletal System)
             Tendon Progenitor Cells Syndetome
    IL17RD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL17RD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.150725

    UniProtKB/Swiss-Prot: I17RD_HUMAN, Q8NFM7
    Tissue specificity: Expressed in umbilical vein endothelial cells and in several highly vascularized tissues such
    as kidney, colon, skeletal muscle, heart and small intestine. Highly expressed in ductal epithelial cells of
    salivary glands, seminal vesicles and the collecting tubules of the kidney. Isoform 1 is also highly expressed in
    both fetal and adult brain, pituitary, tonsils, spleen, adenoids, fetal kidney, liver, testes and ovary. Isoform
    1 is also expressed at moderate levels in primary aortic endothelial cells and adrenal medulla, and at low levels
    in adrenal cortex. Isoform 4 is specifically and highly expressed in pituitary, fetal brain and umbilical vein
    endothelial cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL17RD

    (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 IL17RD gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il17rd1 , 5 interleukin 17 receptor D1, 5 85.12(n)1
    87.89(a)1
      14 (16.09 cM)5
    1714631  NM_134437.31  NP_602319.11 
     270390015 
    chicken
    (Gallus gallus)
    Aves IL17RD1 interleukin 17 receptor D 72.14(n)
    74.36(a)
      395186  NM_204515.1  NP_989846.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL17RD6
    interleukin 17 receptor D
    73(a)
    1 ↔ 1
    2(162929342-162952146)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190502 Transcribed sequence with weak similarity to protein more 75.65(n)    BX750910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii il17rd2 interleukin 17 receptor D 74.01(n)   171474  AF401232.1 


    ENSEMBL Gene Tree for IL17RD (if available)
    TreeFam Gene Tree for IL17RD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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 IL17RD (see all 1645)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1847583501,2,,4
    CHypogonadotropic hypogonadism 18 with or without anosmia (HH18)4 --57144258(+) GATCCT/GTTAGA 2 /K /T mis11Minor allele frequency- G:0.00EU 593
    VAR_0699404
    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)4--see VAR_0699402 S L mis40--------
    VAR_0699384
    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)4--see VAR_0699382 P S mis40--------
    VAR_0699374
    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)4--see VAR_0699372 K R mis40--------
    VAR_0699414
    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)4--see VAR_0699412 P Q mis40--------
    VAR_0699424
    Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)4--see VAR_0699422 A V mis40--------
    rs350156271,2
    C--57123532(+) AAAAA-/ATTCAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs803274221,2
    C,F--57123612(+) GAGCAT/AGGGGG 1 -- int11Minor allele frequency- A:0.02NA 120
    rs770108451,2
    F--57123688(+) ATTTGC/TGTGCA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1889611521,2
    --57123757(+) GAAGTC/GAAATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for IL17RD (57124010 - 57204334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IL17RD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3835CNV Loss18451855
    nsv819583CNV Gain19587683
    nsv876819CNV Gain21882294

    Human Gene Mutation Database (HGMD): IL17RD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL17RD
    DNA2.0 Custom Variant and Variant Library Synthesis for IL17RD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606807   
    OMIM disorders: 615267  
    UniProtKB/Swiss-Prot: I17RD_HUMAN, Q8NFM7
  • Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations
    in IL17RD also have a heterozygous mutation in another HH-associated gene including FGFR1 and KISS1R
    (PubMed:23643382)

  • 3 diseases for IL17RD:    
    About MalaCards
    hypogonadotropic hypogonadism 18 with or without anosmia    polyploidy    hypogonadotropic hypogonadism 8 with or without anosmia


    Find genes that share disorders with IL17RD           About GenesLikeMe

    Genetic Association Database (GAD): IL17RD
    Human Genome Epidemiology (HuGE) Navigator: IL17RD (2 documents)

    Export disorders for IL17RD 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 IL17RD gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with IL17RD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing generates an isoform of the human Sef gene with altered subcellular localization and specificity. (PubMed id 14742870)1, 2, 9 Preger E.... Ron D. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. hSef inhibits PC-12 cell differentiation by interfering with Ras- mitogen-activated protein kinase MAPK signaling. (PubMed id 12958313)1, 2, 9 Xiong S.Q.... Chang Z.J. (J. Biol. Chem. 2003)
    3. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PubMed id 23643382)1, 2 Miraoui H....Pitteloud N. (Am. J. Hum. Genet. 2013)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Sef is a spatial regulator for Ras/MAP kinase signaling. (PubMed id 15239952)1, 2 Torii S.... Nishida E. (Dev. Cell 2004)
    6. 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)
    7. A novel interleukin-17 receptor-like protein identified in human umbilical vein endothelial cells antagonizes basic fibroblast growth factor-induced signaling. (PubMed id 12807873)1, 2 Yang R.-B.... Topper J.N. (J. Biol. Chem. 2003)
    8. Sef inhibits fibroblast growth factor signaling by inhibiting FGFR1 tyrosine phosphorylation and subsequent ERK activation. (PubMed id 12604616)1, 3 Kovalenko D....Friesel R. (J. Biol. Chem. 2003)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Identification of Sef, a novel modulator of FGF signalling. (PubMed id 11802164)1, 3 Tsang M....Dawid I.B. (Nat. Cell Biol. 2002)

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

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54756 HGNC: 17616 AceView: IL17RD Ensembl:ENSG00000144730 euGenes: HUgn54756
    ECgene: IL17RD H-InvDB: IL17RD

    (According to HUGE)
    About This Section

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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 IL17RD Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for IL17RD gene:
    Search GeneIP for patents involving IL17RD

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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