Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IL17RD Gene

Aliases for IL17RD Gene

  • Interleukin 17 Receptor D 2 3 5
  • Interleukin-17 Receptor-Like Protein 3 4
  • IL-17 Receptor D 3 4
  • Sef Homolog 3 4
  • IL17Rhom 3 4
  • IL-17RD 3 4
  • IL17RLM 3 4
  • SEF 3 4
  • HH18 3
  • HSef 4

External Ids for IL17RD Gene

Previous GeneCards Identifiers for IL17RD Gene

  • GC03M056983
  • GC03M057085
  • GC03M057103

Summaries for IL17RD Gene

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. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]

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 kallmann syndrome. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include interleukin-17 receptor activity. An important paralog of this gene is IL17RB.

UniProtKB/Swiss-Prot for IL17RD Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL17RD Gene

Genomics for IL17RD Gene

Regulatory Elements for IL17RD Gene

Promoters for IL17RD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IL17RD on UCSC Golden Path with GeneCards custom track

Genomic Location for IL17RD Gene

Chromosome:
3
Start:
57,089,982 bp from pter
End:
57,170,317 bp from pter
Size:
80,336 bases
Orientation:
Minus strand

Genomic View for IL17RD Gene

Genes around IL17RD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL17RD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL17RD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL17RD Gene

Proteins for IL17RD Gene

  • Protein details for IL17RD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFM7-I17RD_HUMAN
    Recommended name:
    Interleukin-17 receptor D
    Protein Accession:
    Q8NFM7
    Secondary Accessions:
    • Q2NKP7
    • Q58EZ7
    • Q6RVF4
    • Q6UWI5
    • Q8N113
    • Q8NFS0
    • Q9UFA0

    Protein attributes for IL17RD Gene

    Size:
    739 amino acids
    Molecular mass:
    82411 Da
    Quaternary structure:
    • Interacts with MAP3K7 (By similarity). Self-associates. Interacts with FGFR1, FGFR2 and phosphorylated MAP2K1 or MAP2K2. Associates with a MAP2K1/2-MAPK1/3 complex.

    Alternative splice isoforms for IL17RD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL17RD Gene

Proteomics data for IL17RD Gene at MOPED

Post-translational modifications for IL17RD Gene

  • Glycosylation at Asn 19, Asn 55, Asn 62, Asn 80, Asn 137, Asn 171, Asn 206, and Asn 277
  • Modification sites at PhosphoSitePlus

Other Protein References for IL17RD Gene

Antibody Products

  • R&D Systems Antibodies for IL17RD (IL-17 RD/SEF)
  • Cloud-Clone Corp. Antibodies for IL17RD

No data available for DME Specific Peptides for IL17RD Gene

Domains & Families for IL17RD Gene

Gene Families for IL17RD Gene

Protein Domains for IL17RD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for IL17RD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFM7

UniProtKB/Swiss-Prot:

I17RD_HUMAN :
  • Contains 1 SEFIR domain.
Domain:
  • Contains 1 SEFIR domain.
genes like me logo Genes that share domains with IL17RD: view

Function for IL17RD Gene

Molecular function for IL17RD Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with IL17RD: view

Human Phenotype Ontology for IL17RD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL17RD Gene

MGI Knock Outs for IL17RD:

Animal Model Products

  • Taconic Biosciences Mouse Models for IL17RD

miRNA for IL17RD Gene

miRTarBase miRNAs that target IL17RD

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for IL17RD Gene

Localization for IL17RD Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL17RD Gene

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.
Isoform 4: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IL17RD Gene COMPARTMENTS Subcellular localization image for IL17RD gene
Compartment Confidence
golgi apparatus 5
nucleus 5
plasma membrane 4
extracellular 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for IL17RD Gene

Pathways & Interactions for IL17RD Gene

SuperPathways for IL17RD Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Signaling by GPCR
3 Immune System
4 Developmental Biology
5 IL-17 Family Signaling Pathways
genes like me logo Genes that share pathways with IL17RD: view

Pathways by source for IL17RD Gene

Interacting Proteins for IL17RD Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000296318%0d%0a9606.ENSP00000358335%0d%0a9606.ENSP00000393312%0d%0a
Selected Interacting proteins: Q8NFM7-I17RD_HUMAN ENSP00000296318 for IL17RD Gene via I2D STRING

Gene Ontology (GO) - Biological Process for IL17RD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0007165 signal transduction IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with IL17RD: view

No data available for SIGNOR curated interactions for IL17RD Gene

Drugs & Compounds for IL17RD Gene

(1) Drugs for IL17RD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IL17RD: view

Transcripts for IL17RD Gene

Unigene Clusters for IL17RD Gene

Interleukin 17 receptor D:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL17RD Gene

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

Relevant External Links for IL17RD Gene

GeneLoc Exon Structure for
IL17RD
ECgene alternative splicing isoforms for
IL17RD

Expression for IL17RD Gene

mRNA expression in normal human tissues for IL17RD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL17RD Gene

This gene is overexpressed in Uterus (x4.6).

Protein differential expression in normal tissues from HIPED for IL17RD Gene

This gene is overexpressed in Bone (62.9) and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL17RD Gene



SOURCE GeneReport for Unigene cluster for IL17RD Gene Hs.150725

mRNA Expression by UniProt/SwissProt for IL17RD Gene

Q8NFM7-I17RD_HUMAN
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.
genes like me logo Genes that share expression patterns with IL17RD: view

Protein tissue co-expression partners for IL17RD Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for IL17RD Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL17RD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL17RD 35
  • 99.27 (n)
  • 99.16 (a)
IL17RD 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IL17RD 36
  • 90 (a)
OneToOne
IL17RD 35
  • 87.44 (n)
  • 89.12 (a)
dog
(Canis familiaris)
Mammalia IL17RD 35
  • 87.83 (n)
  • 90.62 (a)
IL17RD 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Il17rd 16
Il17rd 35
  • 85.12 (n)
  • 87.89 (a)
Il17rd 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL17RD 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Il17rd 35
  • 85.66 (n)
  • 87.65 (a)
chicken
(Gallus gallus)
Aves IL17RD 35
  • 72.14 (n)
  • 74.36 (a)
IL17RD 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL17RD 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia il17rd 35
  • 68.85 (n)
  • 66.1 (a)
Str.19050 35
zebrafish
(Danio rerio)
Actinopterygii il17rd 36
  • 51 (a)
OneToMany
IL17RD (2 of 2) 36
  • 23 (a)
OneToMany
il17rd 35
  • 60.16 (n)
  • 56.13 (a)
Species with no ortholog for IL17RD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL17RD Gene

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

Paralogs for IL17RD Gene

Paralogs for IL17RD Gene

genes like me logo Genes that share paralogs with IL17RD: view

Variants for IL17RD Gene

Sequence variations from dbSNP and Humsavar for IL17RD Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs6780995 - 57,104,391(+) TGGTC(A/G)TCTCT reference, missense
rs17057718 - 57,102,557(+) GGCCA(C/T)GGCTC reference, missense
rs184758350 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) 57,110,230(+) GATCC(G/T)TTAGA reference, missense, utr-variant-5-prime
VAR_069937 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
VAR_069938 Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)

Structural Variations from Database of Genomic Variants (DGV) for IL17RD Gene

Variant ID Type Subtype PubMed ID
nsv876819 CNV Gain 21882294
nsv819583 CNV Gain 19587683
nsv3835 CNV Loss 18451855

Variation tolerance for IL17RD Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.88; 87.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL17RD Gene

HapMap Linkage Disequilibrium report
IL17RD
Human Gene Mutation Database (HGMD)
IL17RD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL17RD Gene

Disorders for IL17RD Gene

MalaCards: The human disease database

(4) MalaCards diseases for IL17RD Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 18 with or without anosmia
  • hh18
kallmann syndrome
  • familial hypogonadism with anosmia
hypogonadotropic hypogonadism with or without anosmia
  • hypogonadotropic hypogonadism 22 with or without anosmia
hypogonadism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I17RD_HUMAN
  • 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). {ECO:0000269 PubMed:23643382}. 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). {ECO:0000269 PubMed:23643382}.

Relevant External Links for IL17RD

Genetic Association Database (GAD)
IL17RD
Human Genome Epidemiology (HuGE) Navigator
IL17RD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL17RD
genes like me logo Genes that share disorders with IL17RD: view

No data available for Genatlas for IL17RD Gene

Publications for IL17RD Gene

  1. Alternative splicing generates an isoform of the human Sef gene with altered subcellular localization and specificity. (PMID: 14742870) Preger E. … Ron D. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23 67
  2. IL-17RD (Sef or IL-17RLM) interacts with IL-17 receptor and mediates IL-17 signaling. (PMID: 19079364) Rong Z. … Chang Z. (Cell Res. 2009) 3 23
  3. Downregulation of Sef, an inhibitor of receptor tyrosine kinase signaling, is common to a variety of human carcinomas. (PMID: 17420726) Zisman-Rozen S. … Ron D. (Oncogene 2007) 3 23
  4. The human sef-a isoform utilizes different mechanisms to regulate receptor tyrosine kinase signaling pathways and subsequent cell fate. (PMID: 17035228) Ziv I. … Ron D. (J. Biol. Chem. 2006) 3 23
  5. Loss of Sef (similar expression to FGF) expression is associated with high grade and metastatic prostate cancer. (PMID: 16474841) Darby S. … Gnanapragasam V.J. (Oncogene 2006) 3 23

Products for IL17RD Gene

Sources for IL17RD Gene

Back to Top

Content