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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
IL-17 signaling pathway
Alcoholic liver disease
  Interleukin-17 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
899
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic mucocutaneous candidiasis Likely pathogenic rs2517164324 RCV004018275
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
RCV003004983
RCV003448864
RCV003641271
RCV003856953
RCV004555146
RCV000412511
RCV000412594
RCV000412660
RCV000412553
RCV000412583
RCV000023443
RCV000701763
RCV000704330
RCV000804480
RCV001063413
Psoriasis Likely pathogenic rs761716238 RCV002254138
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs4819961 RCV005897518
Familial cancer of breast Conflicting classifications of pathogenicity rs143239201 RCV005906190
Familial Candidiasis, Recessive Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs143652002, rs17205308, rs12484684, rs4819555, rs3804060, rs143534372, rs882643, rs55893323, rs4563337, rs770923252, rs886057222, rs369637114, rs56004960, rs376084268, rs143177937
View all (71 more)
RCV000352789
RCV000357195
RCV000315878
RCV000350688
RCV000310633
RCV000302750
RCV000332485
RCV000309999
RCV000306331
RCV000370338
RCV000262498
RCV000372541
RCV000323670
RCV000377828
RCV000314171
RCV000321823
RCV000266457
RCV000386266
RCV000337488
RCV000343453
RCV000405866
RCV000364290
RCV000285318
RCV000346293
RCV000260850
RCV000372717
RCV000274104
RCV000379138
RCV000290041
RCV000402918
RCV000370692
RCV000364485
RCV000344523
RCV000388113
RCV000359024
RCV000270105
RCV000398087
RCV000260591
RCV000291319
RCV000287803
RCV000293416
RCV000278506
RCV000367282
RCV000399063
RCV000385365
RCV000358659
RCV000330329
RCV000295393
RCV000296969
RCV000354506
RCV000300693
RCV000283371
RCV000368131
RCV000361024
RCV000260383
RCV000272479
RCV000382349
RCV000403125
RCV000264116
RCV000275875
RCV000309646
RCV000367325
RCV000300909
RCV000396848
RCV000315798
RCV000353604
RCV000341309
RCV000362761
RCV000264672
RCV000304955
RCV000361969
RCV000352582
RCV000382089
RCV000285323
RCV000397733
RCV000275487
RCV000300636
RCV000355451
RCV000396995
RCV000296902
RCV000327594
RCV000287874
RCV000298451
RCV000324899
RCV000282593
RCV000373484
RCV000275458
RCV000379537
RCV000352179
RCV000353396
RCV000361334
IL17RA-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs751753949, rs770175173, rs922730539, rs2517164662, rs143652002, rs143008696, rs371342533, rs140221307, rs41482444, rs113571926, rs146478431, rs2228077, rs138446583, rs141467790, rs577217331
View all (2 more)
RCV003961239
RCV003901136
RCV003949163
RCV003976583
RCV003910335
RCV004757211
RCV003957756
RCV004757212
RCV003912437
RCV003945329
RCV003918088
RCV004757270
RCV003937997
RCV004757351
RCV003930680
RCV003940742
RCV004757513
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 21785272
Adenocarcinoma of Lung Associate 33802737
Adenomyosis Associate 39456936
Aneurysm Associate 30686933
Aortic Aneurysm Abdominal Associate 30686933
Arthritis Rheumatoid Associate 11966773, 15059275, 15879699, 30604628, 37926850
Asthma Stimulate 32302698, 33840588
Bacterial Infections Associate 27930337
Balkan Nephropathy Associate 24131581
Borderline Personality Disorder Associate 25612291