Version 5.4
Homo sapiens Protein: IL21R
Summary
InnateDB Protein IDBP-745053.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IL21R
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000456707
InnateDB Gene IDBG-21873 (IL21R)
Protein Structure
UniProt Annotation
Function This is a receptor for interleukin-21.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations IL21R immunodeficiency (IL21RID) [MIM:615207]: An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. {ECO:0000269PubMed:23440042}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.
Tissue Specificity Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 4 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001532 interleukin-21 receptor activity
GO:0005515 protein binding
Biological Process
GO:0030101 natural killer cell activation
GO:0038114 interleukin-21-mediated signaling pathway
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003961 Fibronectin, type III
PFAM PF00041
PF01108
PRINTS
PIRSF
SMART SM00060
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HBE5
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 50615
UniGene Hs.210546
RefSeq NP_851565
HUGO HGNC:6006
OMIM 605383
CCDS CCDS10630
HPRD 05649
IMGT
EMBL AF254067 AF269133 AK292663 AY064474 AY358826 BC004348 BC007946 CH471145
GenPept AAG23419 AAG29346 AAH04348 AAH07946 AAL39168 AAQ89185 BAF85352 EAW55746 EAW55747 EAW55748

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca