Interleukin 17 Receptor A

Alternative Names

  • IL17RA
  • IL17R

Associated Diseases

Immunodeficiency 51
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OMIM Number

605461

NCBI Gene ID

23765

Uniprot ID

Q96F46

Length

30,694 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Interleukin-17 receptor A

Molecular Mass

96122 Da

Amino Acid Count

866

Genomic Location

chr22:17,085,000-17,115,693

Gene Map Locus
22q11.1

Description

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 receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014339.7:c.112_119delSaudi ArabiaNC_000022.11:g.17085203_17085210delPathogenicImmunodeficiency 51NG_028257.1:g.5243_5250del; NM_014339.7:c.112_119del; NP_055154.3:p.His38AlafsTer15
NM_014339.7:c.163+1G>AAlgeriaNC_000022.11:g.17097087G>APathogenicImmunodeficiency 51NG_028257.1:g.17127G>A; NM_014339.7:c.163+1G>A
NM_014339.7:c.268delSaudi ArabiaNC_000022.11:g.17097901delPathogenicPathogenicImmunodeficiency 51NG_028257.1:g.17941del; NM_014339.7:c.268del; NP_055154.3:p.Leu90CysfsTer301057518746372207
NM_014339.7:c.850C>TMoroccoNC_000022.11:g.17104729C>TPathogenicPathogenicImmunodeficiency 51NG_028257.1:g.24769C>T; NM_014339.7:c.850C>T; NP_055154.3:p.Gln284Ter38790691330486
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