Gene
IL21R
interleukin 21 receptor
- HGNC 6006↗(opens in a new tab)
- Ensembl gene ENSG00000103522↗(opens in a new tab)
- NCBI Gene 50615↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p12.1
- Coordinates
- Chromosome 16: 27,402,174–27,452,042 (GRCh38)
- Exons
- 9 exons across 49.9 kb
- Protein
- 538 amino acids
- Also known as
- CD360
- MANE Select transcript
- ENST00000337929.8NM_181078.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
How IL21R is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.8 kb of the gene's 49.9 kb; 1,617 of those bases code for the protein.
How a genome test reads IL21R
9
positions in IL21R where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 49.9 kb of IL21R, introns included, not only the 4.8 kb of exons.
Genes linked to the same conditions
- ADAadenosine deaminaseShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AK2adenylate kinase 2Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- ARPC5actin related protein 2/3 complex subunit 5Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- B2Mbeta-2-microglobulinShares 1 condition
- BACH2BACH transcriptional regulator 2Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
Traits linked to IL21R
The Human Phenotype Ontology lists these as features of the rare conditions IL21R can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IL21R gene: interleukin 21 receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/il21r
Dante Labs. IL21R gene: interleukin 21 receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/il21r
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