ENSG00000138684


Homo sapiens

Features
Gene ID: ENSG00000138684
  
Biological name :IL21
  
Synonyms : IL21 / interleukin 21 / Q9HBE4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q27
Gene start: 122612628
Gene end: 122621069
  
Corresponding Affymetrix probe sets: 221271_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477555
Ensembl peptide - ENSP00000264497
NCBI entrez gene - 59067     See in Manteia.
OMIM - 605384
RefSeq - NM_001207006
RefSeq - NM_021803
RefSeq Peptide - NP_001193935
RefSeq Peptide - NP_068575
swissprot - Q9HBE4
swissprot - A0A224B028
Ensembl - ENSG00000138684
  
Related genetic diseases (OMIM): 615767 - ?Immunodeficiency, common variable, 11, 615767
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 IL21ENSGALG00000011844Gallus gallus
 Il21ENSMUSG00000027718Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003443  Interleukin-15/Interleukin-21 family
 IPR009079  Four-helical cytokine-like, core
 IPR028151  Interleukin-21


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001819 positive regulation of cytokine production IDA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007260 tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IDA
 biological_processGO:0032740 positive regulation of interleukin-17 production IDA
 biological_processGO:0034105 positive regulation of tissue remodeling IC
 biological_processGO:0038114 interleukin-21-mediated signaling pathway TAS
 biological_processGO:0042102 positive regulation of T cell proliferation IDA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0045078 positive regulation of interferon-gamma biosynthetic process NAS
 biological_processGO:0045954 positive regulation of natural killer cell mediated cytotoxicity IDA
 biological_processGO:0048469 cell maturation IDA
 biological_processGO:0050729 positive regulation of inflammatory response IC
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space NAS
 cellular_componentGO:0005622 intracellular IEA
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0005126 cytokine receptor binding TAS
 molecular_functionGO:0005134 interleukin-2 receptor binding IPI


Pathways (from Reactome)
Pathway description
Interleukin-21 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0002028 Chronic diarrhea 
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 HP:0002037 Inflammatory bowel disease 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002721 Immunodeficiency 
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 HP:0003593 Early onset 
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 HP:0004313 Reduced immunoglobulin levels 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105639 JAK3 / P52333 / Janus kinase 3  / complex
 ENSG00000147168 IL2RG / P31785 / interleukin 2 receptor subunit gamma  / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex
 ENSG00000103522 IL21R / Q9HBE5 / interleukin 21 receptor  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / complex






 

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