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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
  • Interleukin-17 Receptor D 3
  • 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 RET signaling and Signaling by moderate kinase activity BRAF mutants. Gene Ontology (GO) annotations related to this gene include interleukin-17 receptor activity. An important paralog of this gene is IL17RA.

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).

Additional gene information for IL17RD Gene

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

Genomics for IL17RD Gene

GeneHancer (GH) Regulatory Elements for IL17RD Gene

Promoters and enhancers for IL17RD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J057162 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 656.2 +6.0 5988 2.9 MXI1 SAP130 ARNT ARID4B BACH1 SIN3A ZNF205 ZEB1 ZFHX2 ZNF614 IL17RD DENND6A HESX1 APPL1 SLMAP LOC105377101
GH03J057169 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.1 116 0.8 ELF3 PKNOX1 RB1 ARID4B MZF1 ZNF2 ZNF48 RAD21 ZEB1 ZNF335 IL17RD APPL1 HESX1 PDE12 ASB14 DNAH12 DENND6A DENND6A-DT SLMAP LOC105377101
GH03J057127 Enhancer 1 Ensembl ENCODE dbSUPER 20 +40.2 40209 5.4 NANOG ZSCAN4 MAX SIN3A MNT ETS1 SP1 JUND POLR2A POU5F1 IL17RD ARHGEF3 HESX1 APPL1 ASB14 DNAH12 SLMAP RPL19P2 PIR43010
GH03J057141 Enhancer 0.7 ENCODE dbSUPER 20.2 +27.4 27448 2.1 CTCF GATA3 POLR2A RCOR1 ATF2 CHD2 IL17RD SLMAP RPL19P2 LOC105377101
GH03J057158 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 +9.7 9743 4 KLF1 ZNF384 FEZF1 ZIC2 ETS1 PRDM10 RCOR1 EZH2 ZBTB20 NANOG CCDC66 FAM208A IL17RD HESX1 APPL1 ASB14 DNAH12 SLMAP LOC105377101
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL17RD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL17RD gene promoter:
  • Nkx2-5
  • Pbx1a
  • POU6F1 (c2)
  • p53
  • MEF-2A
  • aMEF-2
  • C/EBPbeta
  • AML1a
  • C/EBPalpha

Genomic Locations for IL17RD Gene

Genomic Locations for IL17RD Gene
chr3:57,089,982-57,170,317
(GRCh38/hg38)
Size:
80,336 bases
Orientation:
Minus strand
chr3:57,124,010-57,204,334
(GRCh37/hg19)
Size:
80,325 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

Post-translational modifications for IL17RD Gene

  • Glycosylation at isoforms=2, 3, 4277, isoforms=2, 3, 4206, Asn171, isoforms=3, 4137, isoforms=3, 480, isoforms=3, 462, Asn55, and Asn19
  • Modification sites at PhosphoSitePlus

Other Protein References for IL17RD Gene

No data available for DME Specific Peptides for IL17RD Gene

Domains & Families for IL17RD Gene

Gene Families for IL17RD Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

No data available for UniProtKB/Swiss-Prot for IL17RD Gene

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).

Phenotypes From GWAS Catalog for IL17RD Gene

Gene Ontology (GO) - Molecular Function for IL17RD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030368 interleukin-17 receptor activity IBA --
genes like me logo Genes that share ontologies with IL17RD: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL17RD gene
Compartment Confidence
nucleus 5
golgi apparatus 5
plasma membrane 4
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL17RD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with IL17RD: view

Pathways & Interactions for IL17RD Gene

SuperPathways for IL17RD Gene

SuperPathway Contained pathways
1 RET signaling
2 IL-17 Family Signaling Pathways
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with IL17RD: view

Interacting Proteins for IL17RD Gene

Gene Ontology (GO) - Biological Process for IL17RD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0019221 cytokine-mediated signaling pathway IEA --
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

mRNA/cDNA for IL17RD Gene

Unigene Clusters for IL17RD Gene

Interleukin 17 receptor D:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for IL17RD Gene



Protein tissue co-expression partners for IL17RD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL17RD Gene:

IL17RD

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL17RD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IL17RD: view

No data available for Evidence on tissue expression from TISSUES for IL17RD Gene

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 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IL17RD 34 33
  • 87.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL17RD 34 33
  • 87.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il17rd 33
  • 85.66 (n)
mouse
(Mus musculus)
Mammalia Il17rd 16 34 33
  • 85.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IL17RD 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL17RD 34 33
  • 72.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL17RD 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia il17rd 33
  • 68.85 (n)
Str.19050 33
zebrafish
(Danio rerio)
Actinopterygii il17rd 34 33 33
  • 60.16 (n)
OneToMany
IL17RD (2 of 2) 34
  • 23 (a)
OneToMany
Species where no ortholog for IL17RD was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IL17RD: view image

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 Variation AA Info Type
rs145221454 pathogenic, Hypogonadotropic hypogonadism 18 with anosmia, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] 57,098,300(-) G/A/C coding_sequence_variant, missense_variant
rs184758350 pathogenic, likely-pathogenic, uncertain-significance, Hypogonadotropic hypogonadism 18 with anosmia, Delayed puberty, not specified, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] 57,110,230(-) T/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs200088377 likely-pathogenic, Delayed puberty 57,106,133(-) G/A coding_sequence_variant, missense_variant
rs369641068 risk-factor, HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] 57,101,207(-) T/C coding_sequence_variant, missense_variant
rs587776979 risk-factor, HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO, Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] 57,096,409(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv3835 CNV deletion 18451855
nsv819583 CNV gain 19587683

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)

Additional Variant Information for IL17RD Gene

Human Gene Mutation Database (HGMD)
IL17RD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL17RD

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

Disorders for IL17RD Gene

MalaCards: The human disease database

(3) MalaCards diseases for IL17RD Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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}.

Additional Disease Information for IL17RD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  2. hSef inhibits PC-12 cell differentiation by interfering with Ras-mitogen-activated protein kinase MAPK signaling. (PMID: 12958313) Xiong S … Chang Z (The Journal of biological chemistry 2003) 3 4 22 58
  3. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. (PMID: 23643382) Miraoui H … Pitteloud N (American journal of human genetics 2013) 3 4 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  5. IL-17RD (Sef or IL-17RLM) interacts with IL-17 receptor and mediates IL-17 signaling. (PMID: 19079364) Rong Z … Chang Z (Cell research 2009) 3 22 58

Products for IL17RD Gene

Sources for IL17RD Gene

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