Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | IL21 | Human | common variable immunodeficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: IL21 DEFICIENCY | ClinVar | PMID:25741868 and PMID:28492532 | IL21 | Human | common variable immunodeficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: IL21 DEFICIENCY | ClinVar | PMID:24746753 | IL21 | Human | common variable immunodeficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: IL21 DEFICIENCY | ClinVar | PMID:24033266 more ... | IL21 | Human | common variable immunodeficiency 11 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency 11 | ClinVar | PMID:24746753 | IL21 | Human | common variable immunodeficiency 11 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency 11 | ClinVar | PMID:25741868 and PMID:28492532 | IL21 | Human | common variable immunodeficiency 11 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency 11 | ClinVar | PMID:24033266 more ... | IL21 | Human | neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS more ... | ClinVar | PMID:28492532 | IL21 | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Interleukin-21 plays a critical role in the pathogenesis and severity of type I autoimmune hepatitis. | Abe K, etal., Springerplus. 2016 Jun 18;5(1):777. doi: 10.1186/s40064-016-2512-y. eCollection 2016. |
| 2. | Possible role of interleukin 21 and interleukin 33 in patients with genital warts. | Abu El-Hamd M, etal., Dermatol Ther. 2019 Sep;32(5):e13063. doi: 10.1111/dth.13063. Epub 2019 Aug 29. |
| 3. | Impaired autoimmune T helper 17 cell responses following DNA vaccination against rat experimental autoimmune encephalomyelitis. | Andersson A, etal., PLoS One. 2008;3(11):e3682. Epub 2008 Nov 10. |
| 4. | Interleukin-21-dependent modulation of T cell antigen receptor reactivity towards low affinity peptide ligands in autoreactive CD8(+) T lymphocytes. | Bobbala D, etal., Cytokine. 2016 Sep;85:83-91. doi: 10.1016/j.cyto.2016.06.011. Epub 2016 Jun 11. |
| 5. | IL-21 is highly produced in Helicobacter pylori-infected gastric mucosa and promotes gelatinases synthesis. | Caruso R, etal., J Immunol. 2007 May 1;178(9):5957-65. doi: 10.4049/jimmunol.178.9.5957. |
| 6. | A common exonic variant of interleukin21 confers susceptibility to atopic asthma. | Chatterjee R, etal., Int Arch Allergy Immunol. 2009;148(2):137-46. Epub 2008 Sep 19. |
| 7. | Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk. | Einarsdottir E, etal., Tissue Antigens. 2011 Dec;78(6):428-37. doi: 10.1111/j.1399-0039.2011.01791.x. |
| 8. | IL-21 and IL-6 are critical for different aspects of B cell immunity and redundantly induce optimal follicular helper CD4 T cell (Tfh) differentiation. | Eto D, etal., PLoS One. 2011 Mar 14;6(3):e17739. doi: 10.1371/journal.pone.0017739. |
| 9. | HCV-specific interleukin-21+CD4+ T cells responses associated with viral control through the modulation of HCV-specific CD8+ T cells function in chronic hepatitis C patients. | Feng G, etal., Mol Cells. 2013 Oct;36(4):362-7. doi: 10.1007/s10059-013-0181-z. Epub 2013 Oct 22. |
| 10. | Promotion of a functional B cell germinal center response after Leishmania species co-infection is associated with lesion resolution. | Gibson-Corley KN, etal., Am J Pathol. 2012 May;180(5):2009-17. doi: 10.1016/j.ajpath.2012.01.012. Epub 2012 Mar 17. |
| 11. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 12. | Combinatory gene therapy with electrotransfer of midkine promoter-HSV-TK and interleukin-21. | Hanari N, etal., Anticancer Res. 2007 Jul-Aug;27(4B):2305-10. |
| 13. | Antitumor efficacy of viable tumor vaccine modified by heterogenetic ESAT-6 antigen and cytokine IL-21 in melanomatous mouse. | He X, etal., Immunol Res. 2012 Jun;52(3):240-9. doi: 10.1007/s12026-012-8332-4. |
| 14. | Association of IL-17, IL-21, and IL-23R gene polymorphisms with HBV infection in kidney transplant patients. | Hejr S, etal., Viral Immunol. 2013 Jun;26(3):201-6. doi: 10.1089/vim.2013.0007. Epub 2013 May 8. |
| 15. | IL-21 administration into the nostril alleviates murine allergic rhinitis. | Hiromura Y, etal., J Immunol. 2007 Nov 15;179(10):7157-65. |
| 16. | Interleukin-21 mRNA expression during virus infections. | Holm C, etal., Cytokine. 2006 Jan 7;33(1):41-5. doi: 10.1016/j.cyto.2005.11.014. Epub 2006 Jan 5. |
| 17. | Immunization with DNA vaccine expressing herpes simplex virus type 1 gD and IL-21 protects against mouse herpes keratitis. | Hu K, etal., Immunol Invest. 2011;40(3):265-78. doi: 10.3109/08820139.2010.534219. Epub 2011 Jan 4. |
| 18. | Interleukin-21 is upregulated in hepatitis B-related acute-on-chronic liver failure and associated with severity of liver disease. | Hu X, etal., J Viral Hepat. 2011 Jul;18(7):458-67. doi: 10.1111/j.1365-2893.2011.01475.x. Epub 2011 Jun 1. |
| 19. | Interleukin-21 receptor signalling is important for innate immune protection against HSV-2 infections. | Kratholm SK, etal., PLoS One. 2013 Dec 16;8(12):e81790. doi: 10.1371/journal.pone.0081790. eCollection 2013. |
| 20. | Gene-gene and gene-sex epistatic interactions of MiR146a, IRF5, IKZF1, ETS1 and IL21 in systemic lupus erythematosus. | Leng RX, etal., PLoS One. 2012;7(12):e51090. doi: 10.1371/journal.pone.0051090. Epub 2012 Dec 7. |
| 21. | Interleukin-21 responses in patients with chronic hepatitis B. | Li J, etal., J Interferon Cytokine Res. 2015 Feb;35(2):134-42. doi: 10.1089/jir.2013.0119. Epub 2014 Sep 22. |
| 22. | IL21 and IL21R polymorphisms and their interactive effects on serum IL-21 and IgE levels in patients with chronic hepatitis B virus infection. | Li N, etal., Hum Immunol. 2013 May;74(5):567-73. doi: 10.1016/j.humimm.2013.01.005. Epub 2013 Jan 24. |
| 23. | Adaptive immune response in osteoclastic bone resorption induced by orally administered Aggregatibacter actinomycetemcomitans in a rat model of periodontal disease. | Li Y, etal., Mol Oral Microbiol. 2010 Aug;25(4):275-92. |
| 24. | Interleukin-21 Is Associated with Early Antiviral Response in Patients with Hepatitis B e Antigen-Positive Chronic Hepatitis B and Nonalcoholic Fatty Liver Disease. | Liu X, etal., J Interferon Cytokine Res. 2016 Jun;36(6):367-73. doi: 10.1089/jir.2015.0129. Epub 2016 Feb 3. |
| 25. | IL-21 Is Important for Induction of KLRG1+ Effector CD8 T Cells during Acute Intracellular Infection. | Moretto MM and Khan IA, J Immunol. 2016 Jan 1;196(1):375-84. doi: 10.4049/jimmunol.1501258. Epub 2015 Nov 23. |
| 26. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 27. | Increased levels of IL-21 responses are associated with the severity of liver injury in patients with chronic active hepatitis B. | Pan Q, etal., J Viral Hepat. 2014;21(9):e78-88. doi: 10.1111/jvh.12242. Epub 2014 Mar 10. |
| 28. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 29. | Disruption of IL-21 signaling affects T cell-B cell interactions and abrogates protective humoral immunity to malaria. | Pérez-Mazliah D, etal., PLoS Pathog. 2015 Mar 12;11(3):e1004715. doi: 10.1371/journal.ppat.1004715. eCollection 2015 Mar. |
| 30. | Role of IL-21 in HTLV-1 infections with emphasis on HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). | Rajaei T, etal., Med Microbiol Immunol. 2017 Jun;206(3):195-201. doi: 10.1007/s00430-017-0492-3. Epub 2017 Apr 4. |
| 31. | Interleukin 21 augments the hepatitis B virus-specific CD8+ T-cell response in vitro in patients coinfected with HIV-1. | Ren G, etal., AIDS. 2012 Nov 13;26(17):2145-53. doi: 10.1097/QAD.0b013e328359b7ae. |
| 32. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 33. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 34. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 35. | IL-21 and IL-15 cytokine DNA augments HSV specific effector and memory CD8+ T cell response. | Rodrigues L, etal., Mol Immunol. 2009 Apr;46(7):1494-504. doi: 10.1016/j.molimm.2008.12.033. Epub 2009 Feb 23. |
| 36. | Anti-IL-21 monoclonal antibody combined with liraglutide effectively reverses established hyperglycemia in mouse models of type 1 diabetes. | Rydén AK, etal., J Autoimmun. 2017 Nov;84:65-74. doi: 10.1016/j.jaut.2017.07.006. Epub 2017 Jul 12. |
| 37. | IL-21-based therapies induce clearance of hepatitis B virus persistence in mouse models. | Shen Z, etal., Theranostics. 2019 May 31;9(13):3798-3811. doi: 10.7150/thno.35331. eCollection 2019. |
| 38. | Characterization of IL-21-expressing recombinant hepatitis B virus (HBV) as a therapeutic agent targeting persisting HBV infection. | Shen Z, etal., Theranostics. 2020 Apr 25;10(12):5600-5612. doi: 10.7150/thno.44715. eCollection 2020. |
| 39. | IL-21 promotes the pathologic immune response to pneumovirus infection. | Spolski R, etal., J Immunol. 2012 Feb 15;188(4):1924-32. Epub 2012 Jan 11. |
| 40. | IL-21 is required for optimal antibody production and T cell responses during chronic Toxoplasma gondii infection. | Stumhofer JS, etal., PLoS One. 2013 May 7;8(5):e62889. doi: 10.1371/journal.pone.0062889. Print 2013. |
| 41. | Bupi Hewei decoction ameliorates 5-fluorouracil-induced intestinal dysbiosis in rats through T helper 17/T regulatory cell signaling pathway. | Sun Z, etal., J Tradit Chin Med. 2020 Feb;40(1):38-48. |
| 42. | Interleukin 21 Reinvigorates the Antiviral Activity of Hepatitis B Virus (HBV)-Specific CD8+ T Cells in Chronic HBV Infection. | Tang L, etal., J Infect Dis. 2019 Feb 15;219(5):750-759. doi: 10.1093/infdis/jiy576. |
| 43. | Immunization with dendritic cell-based DNA vaccine pRSC-NLDC145.gD-IL21 protects mice against herpes simplex virus keratitis. | Tang R, etal., Immunotherapy. 2018 Mar;10(3):189-200. doi: 10.2217/imt-2017-0060. |
| 44. | Dynamics of interleukin-21 production during the clinical course of primary and secondary dengue virus infections. | Vivanco-Cid H, etal., Immunol Lett. 2014 Sep;161(1):89-95. doi: 10.1016/j.imlet.2014.05.006. Epub 2014 May 22. |
| 45. | Immune correlates of hepatitis B surface antigen spontaneous seroconversion in hepatitis B e antigen negative chronic hepatitis B patients. | Vyas AK, etal., Liver Int. 2018 Jan;38(1):38-49. doi: 10.1111/liv.13475. Epub 2017 Jun 1. |
| 46. | Dysregulated Response of Follicular Helper T Cells to Hepatitis B Surface Antigen Promotes HBV Persistence in Mice and Associates With Outcomes of Patients. | Wang X, etal., Gastroenterology. 2018 Jun;154(8):2222-2236. doi: 10.1053/j.gastro.2018.03.021. Epub 2018 Mar 12. |
| 47. | Role of interleukin-21 and interleukin-21 receptor polymorphisms in the treatment of HBeAg-positive chronic hepatitis B patients with peginterferon. | Wang X, etal., Medicine (Baltimore). 2018 Jun;97(23):e10891. doi: 10.1097/MD.0000000000010891. |
| 48. | Cerebrospinal fluid IL-21 levels in Neuromyelitis Optica and multiple sclerosis. | Wu A, etal., Can J Neurol Sci. 2012 Nov;39(6):813-20. doi: 10.1017/s0317167100015663. |
| 49. | Increased frequency of follicular helper T cells in mice viral myocarditis is relevant with anti-ANT antoantibody. | Yang F, etal., Virol J. 2015 Feb 11;12:20. doi: 10.1186/s12985-015-0257-9. |
| 50. | Interleukin-21 gene polymorphisms and chronic hepatitis B infection in a Chinese population. | Yao JY, etal., World J Gastroenterol. 2015 Apr 14;21(14):4232-9. doi: 10.3748/wjg.v21.i14.4232. |
| 51. | Interleukin-21 (IL-21) Downregulates Dendritic Cell Cytokine Responses to Helicobacter pylori and Modulates T Lymphocyte IL-17A Expression in Peyer's Patches during Infection. | Yasmin S, etal., Infect Immun. 2019 Oct 18;87(11). pii: IAI.00237-19. doi: 10.1128/IAI.00237-19. Print 2019 Nov. |
| 52. | Fusobacterium Nucleatum Subspecies Animalis Influences Proinflammatory Cytokine Expression and Monocyte Activation in Human Colorectal Tumors. | Ye X, etal., Cancer Prev Res (Phila). 2017 Jul;10(7):398-409. doi: 10.1158/1940-6207.CAPR-16-0178. Epub 2017 May 8. |
| 53. | IL-21 promotes late activator APC-mediated T follicular helper cell differentiation in experimental pulmonary virus infection. | Yoo JK and Braciale TJ, PLoS One. 2014 Sep 24;9(9):e105872. doi: 10.1371/journal.pone.0105872. eCollection 2014. |
Additional References at PubMed
| PMID:8626603 | PMID:11081504 | PMID:11267886 | PMID:11418623 | PMID:12244150 | PMID:12477932 | PMID:12504082 | PMID:12759422 | PMID:12893770 | PMID:14635054 | PMID:15100251 | PMID:15147560 |
| PMID:15178704 | PMID:15207081 | PMID:15489334 | PMID:15494482 | PMID:15546387 | PMID:15684054 | PMID:15765404 | PMID:15919378 | PMID:16002671 | PMID:16081794 | PMID:16138102 | PMID:16339522 |
| PMID:16424177 | PMID:16482511 | PMID:16551679 | PMID:17015683 | PMID:17015709 | PMID:17130531 | PMID:17142735 | PMID:17178921 | PMID:17207965 | PMID:17241869 | PMID:17462506 | PMID:17509926 |
| PMID:17558408 | PMID:17565991 | PMID:17624663 | PMID:17672918 | PMID:17673207 | PMID:17698559 | PMID:17703412 | PMID:17712836 | PMID:17713571 | PMID:17720724 | PMID:17785794 | PMID:17888893 |
| PMID:17921346 | PMID:17938255 | PMID:17947662 | PMID:17988587 | PMID:18005035 | PMID:18056361 | PMID:18182577 | PMID:18209077 | PMID:18222514 | PMID:18259184 | PMID:18296629 | PMID:18299268 |
| PMID:18311140 | PMID:18418394 | PMID:18469800 | PMID:18482208 | PMID:18593762 | PMID:18641314 | PMID:18684866 | PMID:18773086 | PMID:18788946 | PMID:18805825 | PMID:18829491 | PMID:18947877 |
| PMID:18981102 | PMID:19022821 | PMID:19026702 | PMID:19073967 | PMID:19201773 | PMID:19234181 | PMID:19258923 | PMID:19302705 | PMID:19322899 | PMID:19404967 | PMID:19447148 | PMID:19471255 |
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| PMID:34328597 | PMID:35122427 | PMID:35151928 | PMID:35416717 | PMID:35580639 | PMID:35648273 | PMID:35891764 | PMID:35911775 | PMID:36189580 | PMID:36233301 | PMID:36505431 | PMID:36738539 |
| PMID:36872451 | PMID:37107636 | PMID:37195820 | PMID:37196065 | PMID:37220805 | PMID:37249661 | PMID:37339051 | PMID:37415982 | PMID:37628716 | PMID:37759505 | PMID:37759746 | PMID:37815034 |
| PMID:37875903 | PMID:37972478 | PMID:38638431 | PMID:39056553 |
Genomics
Comparative Map Data
| IL21 (Homo sapiens - human) |
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| Il21 (Mus musculus - house mouse) |
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| Il21 (Rattus norvegicus - Norway rat) |
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| Il21 (Chinchilla lanigera - long-tailed chinchilla) |
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| IL21 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| IL21 (Canis lupus familiaris - dog) |
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| Il21 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| IL21 (Sus scrofa - pig) |
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| IL21 (Chlorocebus sabaeus - green monkey) |
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| Il21 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in IL21
83 total Variants 
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