Gene Gene information from NCBI Gene database.
Entrez ID 23765
Gene name Interleukin 17 receptor A
Gene symbol IL17RA
Synonyms (NCBI Gene)
CANDF5CD217CDw217IL-17RAIL17RIMD51hIL-17R
Chromosome 22
Chromosome location 22q11.1
Summary Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs201128237 T>C Likely-pathogenic Splice donor variant
rs387906913 C>T Pathogenic Stop gained, coding sequence variant
rs778624945 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs1057518744 ->GGAGATGGTGGAGAGCA Pathogenic Frameshift variant, coding sequence variant
rs1057518745 C>G,T Pathogenic Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
526
miRTarBase ID miRNA Experiments Reference
MIRT019991 hsa-miR-375 Microarray 20215506
MIRT049271 hsa-miR-92a-3p CLASH 23622248
MIRT631783 hsa-miR-5571-5p HITS-CLIP 23824327
MIRT631782 hsa-miR-10b-3p HITS-CLIP 23824327
MIRT631781 hsa-miR-3653-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 21993848, 23695682, 24120361, 28827714, 32353859, 33060197, 33723527
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605461 5985 ENSG00000177663
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96F46
Protein name Interleukin-17 receptor A (IL-17 receptor A) (IL-17RA) (CDw217) (CD antigen CD217)
Protein 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. Receptor for IL17A (PubMed:17911633, PubMed:9367539). Receptor for IL17F (Pub
PDB 3JVF , 4HSA , 4NUX , 5N9B , 5NAN , 7UWL , 7UWM , 7UWN , 7ZAN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16556 IL17R_fnIII_D1 48 198 Interleukin-17 receptor, fibronectin-III-like domain 1 Domain
PF16578 IL17R_fnIII_D2 199 303 Domain
PF08357 SEFIR 378 536 SEFIR domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:21993848}.
Sequence
MGAARSPPSAVPGPLLGLLLLLLGVLAPGGASLRLLDHRALVCSQPGLNCTVKNSTCLDD
SWIHPRNLTPSSPKDLQIQLHFAHTQQGDLFPVAHIEWTLQTDASILYLEGAELSVLQLN
TNERLCVRFEFLSKLRHHHRRWRFTFSHFVVDPDQEYEVTVHHLPKPIPDGDPNHQSKNF
LVPDCEHARMKVTTPCMS
SGSLWDPNITVETLEAHQLRVSFTLWNESTHYQILLTSFPHM
ENHSCFEHMHHIPAPRPEEFHQRSNVTLTLRNLKGCCRHQVQIQPFFSSCLNDCLRHSAT
VSC
PEMPDTPEPIPDYMPLWVYWFITGISILLVGSVILLIVCMTWRLAGPGSEKYSDDTK
YTDGLPAADLIPPPLKPRKVWIIYSADHPLYVDVVLKFAQFLLTACGTEVALDLLEEQAI
SEAGVMTWVGRQKQEMVESNSKIIVLCSRGTRAKWQALLGRGAPVRLRCDHGKPVGDLFT
AAMNMILPDFKRPACFGTYVVCYFSEVSCDGDVPDLFGAAPRYPLMDRFEEVYFRI
QDLE
MFQPGRMHRVGELSGDNYLRSPGGRQLRAALDRFRDWQVRCPDWFECENLYSADDQDAPS
LDEEVFEEPLLPPGTGIVKRAPLVREPGSQACLAIDPLVGEEGGAAVAKLEPHLQPRGQP
APQPLHTLVLAAEEGALVAAVEPGPLADGAAVRLALAGEGEACPLLGSPGAGRNSVLFLP
VDPEDSPLGSSTPMASPDLLPEDVREHLEGLMLSLFEQSLSCQAQGGCSRPAMVLTDPHT
PYEEEQRQSVQSDQGYISRSSPQPPEGLTEMEEEEEEEQDPGKPALPLSPEDLESLRSLQ
RQLLFRQLQKNSGWDTMGSESEGPSA
Sequence length 866
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Chronic mucocutaneous candidiasis Likely pathogenic rs2517164324 RCV004018275
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 51 Likely pathogenic; Pathogenic rs2123797291, rs1330723939, rs2123798029, rs759315432, rs2517158918, rs2061394463, rs2517166028, rs753878546, rs2517164580, rs2517159112, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747
View all (5 more)
RCV001378818
RCV001881672
RCV001885597
RCV002021583
RCV002824235
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Psoriasis Likely pathogenic rs761716238 RCV002254138
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial Candidiasis, Recessive Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 30979738
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 31548328
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 25526314
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 24780906
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 30786053
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 30686933 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 27415816
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 30686933 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 29487139
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28498497, 29884199
★☆☆☆☆
Found in Text Mining only