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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 |
|
| Sequence length |
866 |
| Interactions |
View interactions |
| 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, rs387906913, rs201128237, rs778624945, rs1601340933, rs1321690789 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 |
|
| 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, rs73876645, rs76724856, rs12484781, rs738034, rs5992628, rs62623403, rs537299665, rs3827279, rs4819962, rs11389817, rs917864, rs371342533, rs148319877, rs35219112, rs886057212, rs141573482, rs56069130, rs887796, rs146974604, rs11702918, rs60065827, rs553515179, rs560929034, rs73876647, rs1047929, rs917865, rs140221307, rs879577, rs879576, rs41323645, rs1468488, rs2895332, rs3179921, rs882644, rs886057213, rs866985543, rs1461063811, rs547906480, rs4819961, rs886057226, rs5746995, rs886057229, rs9606617, rs73876646, rs11703539, rs886057236, rs1654, rs13053694, rs531208196, rs2241046, rs2229151, rs879575, rs41516248, rs886057206, rs1555875059, rs886057210, rs12160599, rs57380532, rs114538254, rs1555875263, rs886057225, rs398040433, rs9605216, rs56711032, rs187117742, rs738035, rs11913443, rs12106586, rs3827278, rs1656, rs117907128 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, rs143239201, rs576301533 View all (2 more) |
RCV003961239 RCV003901136 RCV003949163 RCV003976583 RCV003910335 RCV004757211 RCV003957756 RCV004757212 RCV003912437 RCV003945329 RCV003918088 RCV004757270 RCV003937997 RCV004757351 RCV003930680 RCV003940742 RCV004757513 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance |
rs73876645, rs377254160 |
RCV005897519 RCV005909099 |
| Sarcoma |
Uncertain significance |
rs149771513 |
RCV005902053 |
| See cases |
Uncertain significance; Conflicting classifications of pathogenicity |
rs2123807785, rs145378071 |
RCV002252469 RCV002252102 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
rs747381686 |
RCV005930365 |
| Uterine corpus endometrial carcinoma |
Benign |
rs41444249 |
RCV005914192 |
|
| 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 |
| Candidiasis Chronic Mucocutaneous |
Associate |
24120361, 27930337 |
| Carcinoma Hepatocellular |
Associate |
23305119 |
| Carcinoma Renal Cell |
Associate |
39480959 |
| Cerebral Hemorrhage |
Associate |
30836997 |
| Chylomicron retention disease |
Associate |
22977190 |
| Colitis Ulcerative |
Associate |
25834404, 29548809, 34353876 |
| Colonic Neoplasms |
Stimulate |
25834404 |
| Colorectal Neoplasms |
Associate |
26304506, 32462420 |
| Colorectal Neoplasms |
Inhibit |
29548809 |
| COVID 19 |
Associate |
32871183 |
| COVID 19 |
Stimulate |
36481664 |
| Crohn Disease |
Associate |
19235914 |
| Cystic Fibrosis |
Associate |
39837005 |
| Cystitis Interstitial |
Associate |
36979355 |
| Death |
Associate |
22977190 |
| Dermatitis Atopic 1 |
Associate |
33840588 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
20876420 |
| Fanconi Anemia |
Associate |
36790253 |
| Glioma |
Associate |
26755664, 36325335 |
| Hashimoto Disease |
Associate |
35767887 |
| Heart Failure |
Associate |
27399111 |
| Hematologic Diseases |
Associate |
32098966 |
| Hidradenitis Suppurativa |
Associate |
35191018 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate |
35726350 |
| Idiopathic Pulmonary Fibrosis |
Associate |
30604628 |
| Immunologic Deficiency Syndromes |
Associate |
36814216 |
| Infections |
Stimulate |
39837005 |
| Inflammation |
Associate |
22977190, 23305119, 25834404, 29554915, 34544860, 35191018, 36979355 |
| Intervertebral Disc Degeneration |
Associate |
36081453 |
| Intervertebral disc disease |
Associate |
30207057 |
| Leukemia |
Associate |
37808403 |
| Leukemia Myeloid Acute |
Associate |
32098966 |
| Leukoplakia |
Associate |
36790253 |
| Liver Failure |
Associate |
35726350 |
| Lung Diseases |
Associate |
15972674 |
| Lung Diseases Interstitial |
Associate |
30604628 |
| Lupus Erythematosus Systemic |
Associate |
31137925 |
| Lymphoma |
Associate |
37808403 |
| Malaria Cerebral |
Associate |
26667835 |
| Melanoma |
Associate |
37808403 |
| Mouth Abnormalities |
Associate |
36790253 |
| Multiple Myeloma |
Associate |
23594390, 39384864 |
| Multiple Sclerosis |
Associate |
21845543 |
| Mycoses |
Associate |
33359359 |
| Myelodysplastic Syndromes |
Associate |
32098966 |
| Neoplasm Metastasis |
Associate |
17690908 |
| Neoplasm Metastasis |
Stimulate |
26261590 |
| Neoplasms |
Associate |
26261590, 26850593, 31548328, 32462420, 36759154, 37808403, 39480959 |
| Neuroinflammatory Diseases |
Associate |
30836997 |
| Non alcoholic Fatty Liver Disease |
Associate |
31311600 |
| Obesity |
Associate |
33487124 |
| Osteoarthritis |
Associate |
12359166, 34054865 |
| Osteosarcoma |
Associate |
17690908 |
| Pancreatic Neoplasms |
Associate |
31548328 |
| Pediatric Obesity |
Associate |
25612291 |
| Pemphigoid Bullous |
Stimulate |
31572359 |
| Pemphigoid Bullous |
Associate |
33340282 |
| Pneumonia Staphylococcal |
Associate |
27930337 |
| Prostatic Neoplasms |
Associate |
32537467 |
| Pulmonary Disease Chronic Obstructive |
Stimulate |
28298222 |
| Sarcoidosis |
Associate |
29554915 |
| Sarcoma |
Associate |
37808403 |
| Severe Acute Respiratory Syndrome |
Associate |
27746241 |
| Spondylitis Ankylosing |
Associate |
27415816, 32650733, 34744511 |
| Staphylococcal Skin Infections |
Associate |
27930337 |
| Status Asthmaticus |
Stimulate |
25494178, 32842623 |
| Status Asthmaticus |
Associate |
33840588 |
| Stomach Neoplasms |
Associate |
26261590, 29118466, 33661721 |
| Thyroiditis Autoimmune |
Associate |
35767887 |
| Tuberous Sclerosis |
Associate |
23906968 |
| Urinary Bladder Neoplasms |
Inhibit |
27716046 |
| Uterine Cervical Diseases |
Associate |
26241630 |
| Uterine Cervical Neoplasms |
Associate |
26241630 |
| Uveitis |
Associate |
26848019 |
| Vulvar Neoplasms |
Associate |
26241630 |
|