This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines,... See more...

Aliases for IL17RC Gene

Aliases for IL17RC Gene

  • Interleukin 17 Receptor C 2 3 5
  • Interleukin-17 Receptor-Like Protein 3 4
  • Interleukin-17 Receptor Homolog 3 4
  • Interleukin-17 Receptor C 3 4
  • IL-17 Receptor C 3 4
  • IL17Rhom 3 4
  • ZcytoR14 3 4
  • IL17-RL 2 3
  • IL-17RL 3 4
  • IL17F Receptor 3
  • IL-17RC 4
  • CANDF9 3
  • IL17RL 3
  • IL17RC 5

External Ids for IL17RC Gene

Previous GeneCards Identifiers for IL17RC Gene

  • GC03P009950
  • GC03P009933
  • GC03P009958
  • GC03P009895

Summaries for IL17RC Gene

Entrez Gene Summary for IL17RC Gene

  • This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]

GeneCards Summary for IL17RC Gene

IL17RC (Interleukin 17 Receptor C) is a Protein Coding gene. Diseases associated with IL17RC include Candidiasis, Familial, 9 and Chronic Mucocutaneous Candidiasis. Among its related pathways are IL-17 Family Signaling Pathways and Cytokine production by Th17 cells in CF (Mouse model). Gene Ontology (GO) annotations related to this gene include interleukin-17 receptor activity. An important paralog of this gene is IL17RE.

UniProtKB/Swiss-Prot Summary for IL17RC Gene

  • Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity (By similarity). Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity. Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA (PubMed:16785495). Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA (PubMed:18684971). Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA (PubMed:17911633). Upon binding of IL17F homodimer triggers downstream activation of TRAF6 and NF-kappa-B signaling pathway (PubMed:16785495, PubMed:32187518). Induces transcriptional activation of IL33, a potent cytokine that stimulates group 2 innate lymphoid cells and adaptive T-helper 2 cells involved in pulmonary allergic response to fungi (By similarity). Promotes sympathetic innervation of peripheral organs by coordinating the communication between gamma-delta T cells and parenchymal cells. Stimulates sympathetic innervation of thermogenic adipose tissue by driving TGFB1 expression (By similarity). Binding of IL17A-IL17F to IL17RA-IL17RC heterodimeric receptor complex triggers homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter through SEFIR domains. This leads to downstream TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (PubMed:18684971, PubMed:17911633). Primarily induces neutrophil activation and recruitment at infection and inflammatory sites (By similarity). Stimulates the production of antimicrobial beta-defensins DEFB1, DEFB103A, and DEFB104A by mucosal epithelial cells, limiting the entry of microbes through the epithelial barriers (By similarity).
  • [Isoform 5]: Receptor for both IL17A and IL17F.
  • [Isoform 6]: Does not bind IL17A or IL17F.
  • [Isoform 7]: Does not bind IL17A or IL17F.
  • [Isoform 8]: Receptor for both IL17A and IL17F.

Gene Wiki entry for IL17RC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL17RC Gene

Genomics for IL17RC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IL17RC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL17RC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL17RC

Top Transcription factor binding sites by QIAGEN in the IL17RC gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for IL17RC Gene

Latest Assembly
chr3:9,917,074-9,933,630
(GRCh38/hg38)
Size:
16,557 bases
Orientation:
Plus strand

Previous Assembly
chr3:9,958,782-9,975,305
(GRCh37/hg19 by Entrez Gene)
Size:
16,524 bases
Orientation:
Plus strand

chr3:9,958,758-9,975,314
(GRCh37/hg19 by Ensembl)
Size:
16,557 bases
Orientation:
Plus strand

Genomic View for IL17RC Gene

Genes around IL17RC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL17RC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL17RC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL17RC Gene

Proteins for IL17RC Gene

  • Protein details for IL17RC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAC3-I17RC_HUMAN
    Recommended name:
    Interleukin-17 receptor C
    Protein Accession:
    Q8NAC3
    Secondary Accessions:
    • A8BWC1
    • A8BWC9
    • A8BWD5
    • E9PHG1
    • E9PHJ6
    • Q6UVY3
    • Q6UWD4
    • Q8NFS1
    • Q9BR97

    Protein attributes for IL17RC Gene

    Size:
    791 amino acids
    Molecular mass:
    86240 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:32187518). Heterodimer with IL17RA (PubMed:16785495, PubMed:18684971). Heterodimerization with IL17RA is independent of the cytoplasmic tail (By similarity). Associates with non-glycosylated IL17RA constitutively (By similarity). Binding of IL17A and IL17F induces association with glycosylated IL17RA (By similarity). Forms complexes with 2:1 binding stoichiometry: two receptor chains for one interleukin molecule (PubMed:32187518, PubMed:28827714). IL17A homodimer preferentially drives the formation of IL17RA-IL17RC heterodimeric receptor complex, whereas IL17F homodimer forms predominantly complexes with IL17RC homodimer (PubMed:32187518). IL17A-IL17F forms complexes with IL17RA-IL17RC, but with lower affinity when compared to IL17A homodimer (PubMed:32187518). IL17RC chain can not distinguish between IL17A and IL17F molecules, potentially enabling the formation of topologically distinct complexes (PubMed:28827714). Interacts (through SEFIR domain and extended downstream region) with TRAF3IP2/ACT1 (phosphorylated) (PubMed:24120361).

    Three dimensional structures from OCA and Proteopedia for IL17RC Gene

    Alternative splice isoforms for IL17RC Gene

neXtProt entry for IL17RC Gene

Post-translational modifications for IL17RC Gene

  • Glycosylation at Asn189, Asn257, Asn284, Asn297, Asn324, Asn334, Asn420, Asn443, and Asn477
  • Ubiquitination at Lys572
  • Modification sites at PhosphoSitePlus

Assay products for research

  • Abcam assays for IL17RC

No data available for DME Specific Peptides for IL17RC Gene

Domains & Families for IL17RC Gene

Gene Families for IL17RC Gene

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

Protein Domains for IL17RC Gene

InterPro:
Blocks:
  • SEFIR

Suggested Antigen Peptide Sequences for IL17RC Gene

GenScript: Design optimal peptide antigens:
  • IL17F receptor isoform 4 (A8BWC1_HUMAN)
  • IL17F receptor isoform 5 (A8BWC9_HUMAN)
  • IL17F receptor isoform 6 (A8BWD5_HUMAN)
  • cDNA FLJ78323, highly similar to Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 5, mRNA (A8K3Q5_HUMAN)
  • cDNA FLJ60260, highly similar to Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 3, mRNA (B4DI24_HUMAN)
genes like me logo Genes that share domains with IL17RC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IL17RC Gene

Function for IL17RC Gene

Molecular function for IL17RC Gene

UniProtKB/Swiss-Prot Function:
Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity (By similarity). Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity. Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA (PubMed:16785495). Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA (PubMed:18684971). Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA (PubMed:17911633). Upon binding of IL17F homodimer triggers downstream activation of TRAF6 and NF-kappa-B signaling pathway (PubMed:16785495, PubMed:32187518). Induces transcriptional activation of IL33, a potent cytokine that stimulates group 2 innate lymphoid cells and adaptive T-helper 2 cells involved in pulmonary allergic response to fungi (By similarity). Promotes sympathetic innervation of peripheral organs by coordinating the communication between gamma-delta T cells and parenchymal cells. Stimulates sympathetic innervation of thermogenic adipose tissue by driving TGFB1 expression (By similarity). Binding of IL17A-IL17F to IL17RA-IL17RC heterodimeric receptor complex triggers homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter through SEFIR domains. This leads to downstream TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (PubMed:18684971, PubMed:17911633). Primarily induces neutrophil activation and recruitment at infection and inflammatory sites (By similarity). Stimulates the production of antimicrobial beta-defensins DEFB1, DEFB103A, and DEFB104A by mucosal epithelial cells, limiting the entry of microbes through the epithelial barriers (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 5]: Receptor for both IL17A and IL17F.
UniProtKB/Swiss-Prot Function:
[Isoform 6]: Does not bind IL17A or IL17F.
UniProtKB/Swiss-Prot Function:
[Isoform 7]: Does not bind IL17A or IL17F.
UniProtKB/Swiss-Prot Function:
[Isoform 8]: Receptor for both IL17A and IL17F.
UniProtKB/Swiss-Prot Induction:
By HGF and VEGF.

Phenotypes From GWAS Catalog for IL17RC Gene

Gene Ontology (GO) - Molecular Function for IL17RC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005515 protein binding IPI 24120361
GO:0030368 interleukin-17 receptor activity IEA,IDA 17911633
genes like me logo Genes that share ontologies with IL17RC: view
genes like me logo Genes that share phenotypes with IL17RC: view

Human Phenotype Ontology for IL17RC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL17RC Gene

MGI Knock Outs for IL17RC:

Animal Models for research

  • Taconic Biosciences Mouse Models for IL17RC

miRNA for IL17RC Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL17RC

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL17RC Gene

Localization for IL17RC Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL17RC Gene

Cell membrane. Single-pass type I membrane protein. Note=Soluble isoforms may be produced.

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 IL17RC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for IL17RC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL17RC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL17RC Gene

Pathways & Interactions for IL17RC Gene

PathCards logo

SuperPathways for IL17RC Gene

SuperPathway Contained pathways
1 IL-17 Family Signaling Pathways
.48
2 PEDF Induced Signaling
.51
.47
.43
3 TGF-Beta Pathway
.60
.60
.57
.51
4 Akt Signaling
.60
.60
.55
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with IL17RC: view

Pathways by source for IL17RC Gene

1 Sino Biological pathway for IL17RC Gene
1 BioSystems pathway for IL17RC Gene
3 GeneGo (Thomson Reuters) pathways for IL17RC Gene
  • Cytokine production by Th17 cells in CF
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Mucin expression in CF via IL-6, IL-17 signaling pathways
1 R&D Systems pathway for IL17RC Gene
12 Qiagen pathways for IL17RC Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Glucocorticoid Receptor Signaling
  • JAK-STAT Pathway
  • JNK Pathway

Gene Ontology (GO) - Biological Process for IL17RC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0032755 positive regulation of interleukin-6 production IEA --
GO:0050832 defense response to fungus IEA --
GO:0071621 granulocyte chemotaxis IEA --
genes like me logo Genes that share ontologies with IL17RC: view

No data available for SIGNOR curated interactions for IL17RC Gene

Drugs & Compounds for IL17RC Gene

No Compound Related Data Available

Transcripts for IL17RC Gene

mRNA/cDNA for IL17RC Gene

11 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL17RC

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for IL17RC Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - -
SP6: -
SP7: - - - -
SP8:
SP9: - - - -
SP10: - - -
SP11: - - - -
SP12:
SP13: -

ExUns: 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for IL17RC Gene

GeneLoc Exon Structure for
IL17RC

Expression for IL17RC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL17RC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Dermis (Integumentary System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL17RC

SOURCE GeneReport for Unigene cluster for IL17RC Gene:

Hs.129959

mRNA Expression by UniProt/SwissProt for IL17RC Gene:

Q8NAC3-I17RC_HUMAN
Tissue specificity: Expressed in prostate, skeletal muscle, kidney and placenta (at protein level) (PubMed:11706037). Expressed in brain, cartilage, colon, heart, intestine, kidney, liver, lung, muscle, placenta, and prostate (PubMed:11706037). Also detected in thyroid, trachea and adrenal gland (PubMed:17911633). Low expression in thymus and leukocytes (PubMed:11706037).

Evidence on tissue expression from TISSUES for IL17RC Gene

  • Spleen(4.5)
  • Nervous system(4.2)
  • Skin(3.2)
  • Pancreas(2.7)
  • Lung(2.5)
  • Heart(2.5)
  • Liver(2.4)
  • Intestine(2.3)
  • Kidney(2.2)
  • Muscle(2.2)
  • Lymph node(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL17RC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL17RC: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for IL17RC Gene

Orthologs for IL17RC Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL17RC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IL17RC 29 30
  • 98.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IL17RC 29 30
  • 84.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IL17RC 29 30
  • 84.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Il17rc 29
  • 77.42 (n)
Mouse
(Mus musculus)
Mammalia Il17rc 29 16 30
  • 77.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IL17RC 30
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IL17RC 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101750586 29
  • 53.95 (n)
IL17RC 30
  • 42 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IL17RC 30
  • 36 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486154 29
  • 44.94 (n)
Species where no ortholog for IL17RC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for IL17RC Gene

ENSEMBL:
Gene Tree for IL17RC (if available)
TreeFam:
Gene Tree for IL17RC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL17RC: view image
Alliance of Genome Resources:
Additional Orthologs for IL17RC

Paralogs for IL17RC Gene

Paralogs for IL17RC Gene

genes like me logo Genes that share paralogs with IL17RC: view

Variants for IL17RC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL17RC Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1001477 Uncertain Significance: Candidiasis, familial, 9 9,933,555(+) G/C
NM_153460.4(IL17RC):c.2125G>C (p.Gly709Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1001948 Uncertain Significance: Candidiasis, familial, 9 9,930,107(+) G/A
NM_153460.4(IL17RC):c.1236G>A (p.Leu412=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
1002278 Uncertain Significance: Candidiasis, familial, 9 9,932,657(+) C/CG
NM_153460.4(IL17RC):c.1438dup (p.Ala480fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1004349 Uncertain Significance: Candidiasis, familial, 9 9,933,471(+) G/A
NM_153460.4(IL17RC):c.2041G>A (p.Ala681Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1004864 Uncertain Significance: Candidiasis, familial, 9 9,917,955(+) G/A
NM_153460.4(IL17RC):c.160G>A (p.Val54Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IL17RC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IL17RC Gene

Variant ID Type Subtype PubMed ID
nsv589648 CNV loss 21841781
nsv834615 CNV loss 17160897

Variation tolerance for IL17RC Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.62; 78.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL17RC Gene

Human Gene Mutation Database (HGMD)
IL17RC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL17RC
Leiden Open Variation Database (LOVD)
IL17RC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL17RC Gene

Disorders for IL17RC Gene

MalaCards: The human disease database

(11) MalaCards diseases for IL17RC Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
candidiasis, familial, 9
  • candf9
chronic mucocutaneous candidiasis
  • familiar chronic mucocutaneous candidiasis
candidiasis
  • disseminated candidiasis
immunodeficiency 29
  • imd29
cutaneous candidiasis
  • candidiasis, cutaneous
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I17RC_HUMAN
  • Candidiasis, familial, 9 (CANDF9) [MIM:616445]: A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269 PubMed:25918342}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IL17RC

genes like me logo Genes that share disorders with IL17RC: view

No data available for Genatlas for IL17RC Gene

Publications for IL17RC Gene

  1. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. (PMID: 25918342) Ling Y … Puel A (The Journal of experimental medicine 2015) 3 4 72
  2. Soluble and transmembrane isoforms of novel interleukin-17 receptor-like protein by RNA splicing and expression in prostate cancer. (PMID: 11706037) Haudenschild D … Reddi AH (The Journal of biological chemistry 2002) 2 3 4
  3. Structural Analysis Reveals that the Cytokine IL-17F Forms a Homodimeric Complex with Receptor IL-17RC to Drive IL-17RA-Independent Signaling. (PMID: 32187518) Goepfert A … Rondeau JM (Immunity 2020) 3 4
  4. The human IL-17A/F heterodimer: a two-faced cytokine with unique receptor recognition properties. (PMID: 28827714) Goepfert A … Rondeau JM (Scientific reports 2017) 3 4
  5. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. (PMID: 24120361) Boisson B … Casanova JL (Immunity 2013) 3 4

Products for IL17RC Gene

Sources for IL17RC Gene