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UniProtKB - Q9HBE5 (IL21R_HUMAN)

Entry version 180 (02 Jun 2021)
Sequence version 1 (01 Mar 2001)
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Protein

Interleukin-21 receptor

Gene

IL21R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

This is a receptor for interleukin-21.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9HBE5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9020958, Interleukin-21 signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9HBE5

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9HBE5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Interleukin-21 receptor
Short name:
IL-21 receptor
Short name:
IL-21R
Alternative name(s):
Novel interleukin receptor
CD_antigen: CD360
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IL21R
Synonyms:NILR
ORF Names:UNQ3121/PRO10273
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6006, IL21R

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605383, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9HBE5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000103522.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 232ExtracellularSequence analysisAdd BLAST213
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei233 – 253HelicalSequence analysisAdd BLAST21
Topological domaini254 – 538CytoplasmicSequence analysisAdd BLAST285

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Immunodeficiency 56 (IMD56)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06989881 – 82Missing in IMD56; loss of function mutation. 1 Publication2
Natural variantiVAR_069899201R → L in IMD56; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514685EnsemblClinVar.1
Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		50615

MalaCards human disease database

More...MalaCardsi		IL21R
MIMi615207, phenotype

Open Targets

More...OpenTargetsi		ENSG00000103522

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		357329, Combined immunodeficiency due to IL21R deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29821

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9HBE5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IL21R

Domain mapping of disease mutations (DMDM)

More...DMDMi		20454997

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 191 PublicationAdd BLAST19
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001088120 – 538Interleukin-21 receptorAdd BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi20 ↔ 1091 Publication
Disulfide bondi25 ↔ 351 Publication
Disulfide bondi65 ↔ 811 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi73N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi214C-linked (Man) tryptophan1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9HBE5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9HBE5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9HBE5

PeptideAtlas

More...PeptideAtlasi		Q9HBE5

PRoteomics IDEntifications database

More...PRIDEi		Q9HBE5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81535

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9HBE5, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9HBE5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9HBE5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000103522, Expressed in prostate gland and 150 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9HBE5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000103522, Group enriched (blood, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with the common gamma subunit. Associates with JAK1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119095, 6 interactors

Protein interaction database and analysis system

More...IntActi		Q9HBE5, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000338010

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9HBE5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1538
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9HBE5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini21 – 118Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini119 – 228Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST110

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni342 – 367DisorderedSequence analysisAdd BLAST26
Regioni457 – 487DisorderedSequence analysisAdd BLAST31

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi214 – 218WSXWS motif5
Motifi266 – 274Box 1 motif9

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.1 Publication
The box 1 motif is required for JAK interaction and/or activation.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type I cytokine receptor family. Type 4 subfamily.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S0QM, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000048783

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039739_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9HBE5

Identification of Orthologs from Complete Genome Data

More...OMAi		QSEDGYP

Database of Orthologous Groups

More...OrthoDBi		774083at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9HBE5

TreeFam database of animal gene trees

More...TreeFami		TF337874

Family and domain databases

Conserved Domains Database

More...CDDi		cd00063, FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR003531, Hempt_rcpt_S_F1_CS
IPR013783, Ig-like_fold

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49265, SSF49265, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853, FN3, 1 hit
PS01355, HEMATOPO_REC_S_F1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q9HBE5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRGWAAPLL LLLLQGGWGC PDLVCYTDYL QTVICILEMW NLHPSTLTLT 
        60         70         80         90        100
WQDQYEELKD EATSCSLHRS AHNATHATYT CHMDVFHFMA DDIFSVNITD 
       110        120        130        140        150
QSGNYSQECG SFLLAESIKP APPFNVTVTF SGQYNISWRS DYEDPAFYML 
       160        170        180        190        200
KGKLQYELQY RNRGDPWAVS PRRKLISVDS RSVSLLPLEF RKDSSYELQV 
       210        220        230        240        250
RAGPMPGSSY QGTWSEWSDP VIFQTQSEEL KEGWNPHLLL LLLLVIVFIP 
       260        270        280        290        300
AFWSLKTHPL WRLWKKIWAV PSPERFFMPL YKGCSGDFKK WVGAPFTGSS 
       310        320        330        340        350
LELGPWSPEV PSTLEVYSCH PPRSPAKRLQ LTELQEPAEL VESDGVPKPS 
       360        370        380        390        400
FWPTAQNSGG SAYSEERDRP YGLVSIDTVT VLDAEGPCTW PCSCEDDGYP 
       410        420        430        440        450
ALDLDAGLEP SPGLEDPLLD AGTTVLSCGC VSAGSPGLGG PLGSLLDRLK 
       460        470        480        490        500
PPLADGEDWA GGLPWGGRSP GGVSESEAGS PLAGLDMDTF DSGFVGSDCS 
       510        520        530 
SPVECDFTSP GDEGPPRSYL RQWVVIPPPL SSPGPQAS
Length:538
Mass (Da):59,130
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i414079CCB974850A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti386G → R in AAG23419 (PubMed:11016959).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06989881 – 82Missing in IMD56; loss of function mutation. 1 Publication2
Natural variantiVAR_014360191R → C1 PublicationCorresponds to variant dbSNP:rs3093370EnsemblClinVar.1
Natural variantiVAR_069899201R → L in IMD56; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514685EnsemblClinVar.1
Natural variantiVAR_014361318S → R1 PublicationCorresponds to variant dbSNP:rs3093385EnsemblClinVar.1
Natural variantiVAR_014362484G → S1 PublicationCorresponds to variant dbSNP:rs3093386EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF254067 mRNA Translation: AAG29346.1
AF269133 mRNA Translation: AAG23419.1
AY358826 mRNA Translation: AAQ89185.1
AY064474 Genomic DNA Translation: AAL39168.1
AK292663 mRNA Translation: BAF85352.1
CH471145 Genomic DNA Translation: EAW55746.1
CH471145 Genomic DNA Translation: EAW55747.1
CH471145 Genomic DNA Translation: EAW55748.1
BC004348 mRNA Translation: AAH04348.1
BC007946 mRNA Translation: AAH07946.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10630.1

NCBI Reference Sequences

More...RefSeqi		NP_068570.1, NM_021798.3
NP_851564.1, NM_181078.2
NP_851565.4, NM_181079.4
XP_016878746.1, XM_017023257.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000337929; ENSP00000338010; ENSG00000103522
ENST00000395754; ENSP00000379103; ENSG00000103522
ENST00000564089; ENSP00000456707; ENSG00000103522

Database of genes from NCBI RefSeq genomes

More...GeneIDi		50615

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:50615

UCSC genome browser

More...UCSCi		uc002doq.2, human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF254067 mRNA Translation: AAG29346.1
AF269133 mRNA Translation: AAG23419.1
AY358826 mRNA Translation: AAQ89185.1
AY064474 Genomic DNA Translation: AAL39168.1
AK292663 mRNA Translation: BAF85352.1
CH471145 Genomic DNA Translation: EAW55746.1
CH471145 Genomic DNA Translation: EAW55747.1
CH471145 Genomic DNA Translation: EAW55748.1
BC004348 mRNA Translation: AAH04348.1
BC007946 mRNA Translation: AAH07946.2
CCDSiCCDS10630.1
RefSeqiNP_068570.1, NM_021798.3
NP_851564.1, NM_181078.2
NP_851565.4, NM_181079.4
XP_016878746.1, XM_017023257.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TGXX-ray2.80A/C/E/G/I/K/M/O20-232[»]
4NZDX-ray2.75A/B/C20-232[»]
6PLHX-ray1.60C202-232[»]
SMRiQ9HBE5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119095, 6 interactors
IntActiQ9HBE5, 1 interactor
STRINGi9606.ENSP00000338010

PTM databases

GlyGeniQ9HBE5, 6 sites
iPTMnetiQ9HBE5
PhosphoSitePlusiQ9HBE5

Genetic variation databases

BioMutaiIL21R
DMDMi20454997

Proteomic databases

MassIVEiQ9HBE5
MaxQBiQ9HBE5
PaxDbiQ9HBE5
PeptideAtlasiQ9HBE5
PRIDEiQ9HBE5
ProteomicsDBi81535

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q9HBE5, 59 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12828, 478 antibodies

The DNASU plasmid repository

More...DNASUi		50615

Genome annotation databases

EnsembliENST00000337929; ENSP00000338010; ENSG00000103522
ENST00000395754; ENSP00000379103; ENSG00000103522
ENST00000564089; ENSP00000456707; ENSG00000103522
GeneIDi50615
KEGGihsa:50615
UCSCiuc002doq.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		50615
DisGeNETi50615

GeneCards: human genes, protein and diseases

More...GeneCardsi		IL21R
HGNCiHGNC:6006, IL21R
HPAiENSG00000103522, Group enriched (blood, lymphoid tissue)
MalaCardsiIL21R
MIMi605383, gene
615207, phenotype
neXtProtiNX_Q9HBE5
OpenTargetsiENSG00000103522
Orphaneti357329, Combined immunodeficiency due to IL21R deficiency
PharmGKBiPA29821
VEuPathDBiHostDB:ENSG00000103522.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S0QM, Eukaryota
GeneTreeiENSGT00510000048783
HOGENOMiCLU_039739_0_0_1
InParanoidiQ9HBE5
OMAiQSEDGYP
OrthoDBi774083at2759
PhylomeDBiQ9HBE5
TreeFamiTF337874

Enzyme and pathway databases

PathwayCommonsiQ9HBE5
ReactomeiR-HSA-9020958, Interleukin-21 signaling
SignaLinkiQ9HBE5
SIGNORiQ9HBE5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		50615, 4 hits in 982 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		IL21R, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Interleukin-21_receptor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		50615
PharosiQ9HBE5, Tbio

Protein Ontology

More...PROi		PR:Q9HBE5
RNActiQ9HBE5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103522, Expressed in prostate gland and 150 other tissues
GenevisibleiQ9HBE5, HS

Family and domain databases

CDDicd00063, FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR003531, Hempt_rcpt_S_F1_CS
IPR013783, Ig-like_fold
SUPFAMiSSF49265, SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853, FN3, 1 hit
PS01355, HEMATOPO_REC_S_F1, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIL21R_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HBE5
Secondary accession number(s): A8K9E8
, D3DWF7, Q96HZ1, Q9HB91
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: March 1, 2001
Last modified: June 2, 2021
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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