Interleukin 21 Receptor

Alternative Names

  • IL21R
  • IL21R/BCL6 Fusion Gene

Associated Diseases

Immunodeficiency 56
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OMIM Number

605383

NCBI Gene ID

50615

Uniprot ID

Q9HBE5

Length

49,881 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Interleukin-21 receptor

Molecular Mass

59130 Da

Amino Acid Count

538

Genomic Location

chr16:27,402,162-27,452,042

Gene Map Locus
16p12.1

Description

The IL21R gene codes for a cytokine receptor for interleukin-21. It plays an important role in the proliferationa nd differentiation of B, T and NK cells. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021798.3:c.602G>APalestinechr16:27444636PathogenicPathogenicImmunodeficiency 56NG_012222.1:g.47235G>A; NM_021798.3:c.602G>A; NP_068570.1:p.Arg201Gln397514685638070
NM_021798.3:c.602G>TLebanonchr16:27444636PathogenicPathogenicImmunodeficiency 56NG_012222.1:g.47235G>T; NM_021798.3:c.602G>T; NP_068570.1:p.Arg201Leu39751468542200
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