Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IL21 Gene

Aliases for IL21 Gene

  • Interleukin 21 2 3 5
  • IL-21 3 4
  • Za11 3 4
  • Interleukin-21 Isoform 3
  • Interleukin-21 3
  • CVID11 3

External Ids for IL21 Gene

Previous GeneCards Identifiers for IL21 Gene

  • GC04M124446
  • GC04M123813
  • GC04M123926
  • GC04M123992
  • GC04M123891
  • GC04M123534
  • GC04M119260

Summaries for IL21 Gene

Entrez Gene Summary for IL21 Gene

  • This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for IL21 Gene

IL21 (Interleukin 21) is a Protein Coding gene. Diseases associated with IL21 include Immunodeficiency, Common Variable, 11 and Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive. Among its related pathways are PEDF Induced Signaling and PAK Pathway. GO annotations related to this gene include cytokine activity and interleukin-2 receptor binding.

UniProtKB/Swiss-Prot for IL21 Gene

  • Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation.

Gene Wiki entry for IL21 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL21 Gene

Genomics for IL21 Gene

Regulatory Elements for IL21 Gene

Enhancers for IL21 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G122665 1.2 Ensembl ENCODE 11 -46.4 -46422 4.4 PKNOX1 FOXA2 FEZF1 ZNF121 KLF7 FOS JUNB TSHZ1 TBX21 MEF2D IL21 IL21-AS1 FGF2 BBS12
GH04G122150 1.7 FANTOM5 ENCODE dbSUPER 1.1 +469.1 469066 3.7 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 SP3 IL2 KIAA1109 IL21 RN7SL335P
GH04G122660 1.1 Ensembl ENCODE 0.3 -40.4 -40431 1.3 HDAC1 FOXA2 CBX3 ATF1 CREB3L1 ZNF766 GATA2 CREM CEBPB ZEB2 IL21-AS1 BBS12 CETN4P FGF2 IL21
GH04G122699 1.2 Ensembl ENCODE 0.2 -79.2 -79225 1.0 HDGF PKNOX1 ATF1 SIN3A ZNF766 CBX5 GATA2 FOS KDM4B ZNF263 FGF2 IL21-AS1 CETN4P BBS12 IL21
GH04G122689 0.7 ENCODE 0.2 -67.0 -66950 0.0 HDAC1 SMARCE1 PKNOX1 L3MBTL2 NRF1 CEBPG EP300 POLR2H ARID1B MEF2D IL21-AS1 BBS12 IL21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL21 on UCSC Golden Path with GeneCards custom track

Genomic Location for IL21 Gene

Chromosome:
4
Start:
122,612,628 bp from pter
End:
122,621,069 bp from pter
Size:
8,442 bases
Orientation:
Minus strand

Genomic View for IL21 Gene

Genes around IL21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL21 Gene

Proteins for IL21 Gene

  • Protein details for IL21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBE4-IL21_HUMAN
    Recommended name:
    Interleukin-21
    Protein Accession:
    Q9HBE4
    Secondary Accessions:
    • A5J0L4

    Protein attributes for IL21 Gene

    Size:
    155 amino acids
    Molecular mass:
    17923 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG29348.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH66258.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH66259.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH66260.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH66261.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH66262.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH69124.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAU88182.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=ABG36529.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL21 Gene

    Alternative splice isoforms for IL21 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL21 Gene

Post-translational modifications for IL21 Gene

  • Glycosylation at isoforms=290
  • Modification sites at PhosphoSitePlus

Other Protein References for IL21 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

No data available for DME Specific Peptides for IL21 Gene

Domains & Families for IL21 Gene

Gene Families for IL21 Gene

Protein Domains for IL21 Gene

Suggested Antigen Peptide Sequences for IL21 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HBE4

UniProtKB/Swiss-Prot:

IL21_HUMAN :
  • Belongs to the IL-15/IL-21 family.
Family:
  • Belongs to the IL-15/IL-21 family.
genes like me logo Genes that share domains with IL21: view

Function for IL21 Gene

Molecular function for IL21 Gene

UniProtKB/Swiss-Prot Function:
Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation.

Gene Ontology (GO) - Molecular Function for IL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
GO:0005126 cytokine receptor binding TAS 15546387
GO:0005134 interleukin-2 receptor binding IPI 12504082
genes like me logo Genes that share ontologies with IL21: view
genes like me logo Genes that share phenotypes with IL21: view

Human Phenotype Ontology for IL21 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL21 Gene

MGI Knock Outs for IL21:

Animal Model Products

  • Taconic Biosciences Mouse Models for IL21

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IL21

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL21 Gene

Localization for IL21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL21 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL21 gene
Compartment Confidence
extracellular 5
nucleus 1

Gene Ontology (GO) - Cellular Components for IL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space NAS 11081504
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with IL21: view

Pathways & Interactions for IL21 Gene

genes like me logo Genes that share pathways with IL21: view

SIGNOR curated interactions for IL21 Gene

Activates:

Gene Ontology (GO) - Biological Process for IL21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production IDA 19322899
GO:0006955 immune response IEA --
GO:0007165 signal transduction NAS 11081504
GO:0007260 tyrosine phosphorylation of STAT protein IDA 12244150
GO:0008284 positive regulation of cell proliferation IDA 17673207
genes like me logo Genes that share ontologies with IL21: view

Drugs & Compounds for IL21 Gene

(2) Drugs for IL21 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IL21 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL21: view

Transcripts for IL21 Gene

mRNA/cDNA for IL21 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IL21 Gene

Interleukin 21:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IL21

Alternative Splicing Database (ASD) splice patterns (SP) for IL21 Gene

No ASD Table

Relevant External Links for IL21 Gene

GeneLoc Exon Structure for
IL21
ECgene alternative splicing isoforms for
IL21

Expression for IL21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL21 Gene

mRNA differential expression in normal tissues according to GTEx for IL21 Gene

This gene is overexpressed in Testis (x41.3).

Protein differential expression in normal tissues from HIPED for IL21 Gene

This gene is overexpressed in Testis (23.6), Adrenal (19.9), Heart (12.1), and Stomach (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL21 Gene



Protein tissue co-expression partners for IL21 Gene

NURSA nuclear receptor signaling pathways regulating expression of IL21 Gene:

IL21

SOURCE GeneReport for Unigene cluster for IL21 Gene:

Hs.567559

mRNA Expression by UniProt/SwissProt for IL21 Gene:

Q9HBE4-IL21_HUMAN
Tissue specificity: Expressed in activated CD4-positive T-cells but not in CD8-positive T-cells, B-cells, or monocytes.

Evidence on tissue expression from TISSUES for IL21 Gene

  • Blood(2.4)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL21 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
Organs:
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • vagina
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL21: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for IL21 Gene

Orthologs for IL21 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL21 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia IL21 34 35
  • 89.04 (n)
cow
(Bos Taurus)
Mammalia IL21 34 35
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Il21 34 16 35
  • 76.94 (n)
rat
(Rattus norvegicus)
Mammalia Il21 34
  • 75.8 (n)
oppossum
(Monodelphis domestica)
Mammalia IL21 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL21 35
  • 30 (a)
OneToOne
Species where no ortholog for IL21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL21 Gene

ENSEMBL:
Gene Tree for IL21 (if available)
TreeFam:
Gene Tree for IL21 (if available)

Paralogs for IL21 Gene

No data available for Paralogs for IL21 Gene

Variants for IL21 Gene

Sequence variations from dbSNP and Humsavar for IL21 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_071292 Immunodeficiency, common variable, 11 (CVID11) [MIM:615767]
rs587777338 Pathogenic 122,620,866(+) TTTTC(A/G)GCTGA reference, missense, splice-acceptor-variant
rs1000176482 -- 122,619,752(+) CTAGA(G/T)AGTGA intron-variant
rs1000944712 -- 122,614,414(+) AATTT(A/G)AAAAA intron-variant
rs1000997036 -- 122,614,197(+) ACATG(C/T)TTAAC intron-variant

Variation tolerance for IL21 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL21 Gene

Human Gene Mutation Database (HGMD)
IL21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for IL21 Gene

Disorders for IL21 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IL21 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 11
  • il21 deficiency
inflammatory bowel disease 25, early onset, autosomal recessive
  • inflammatory bowel disease 25
mikulicz disease
  • mikulicz's disease
dacryoadenitis
  • dacryocystitis
multicentric castleman disease
  • idiopathic multicentric castleman's disease
- elite association - COSMIC cancer census association via MalaCards
Search IL21 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL21_HUMAN
  • Immunodeficiency, common variable, 11 (CVID11) [MIM:615767]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269 PubMed:24746753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IL21

Genetic Association Database (GAD)
IL21
Human Genome Epidemiology (HuGE) Navigator
IL21
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL21
genes like me logo Genes that share disorders with IL21: view

No data available for Genatlas for IL21 Gene

Publications for IL21 Gene

  1. Genetic association of interleukin-21 polymorphisms with systemic lupus erythematosus. (PMID: 17720724) Sawalha A.H. … Harley J.B. (Ann. Rheum. Dis. 2008) 3 22 46 64
  2. Cloning and characterization of an isoform of interleukin-21. (PMID: 17673207) Rahman M. … Asao H. (FEBS Lett. 2007) 3 4 22 64
  3. IFN-alpha regulates IL-21 and IL-21R expression in human NK and T cells. (PMID: 15178704) Strengell M. … Matikainen S. (J. Leukoc. Biol. 2004) 3 4 22 64
  4. Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function. (PMID: 11081504) Parrish-Novak J. … Foster D. (Nature 2000) 2 3 4 64
  5. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. (PMID: 24746753) Salzer E. … Boztug K. (J. Allergy Clin. Immunol. 2014) 3 4 64

Products for IL21 Gene

Sources for IL21 Gene

Content
Loading form....