ENSG00000103522
Homo sapiens | |
Features
| Gene ID: | ENSG00000103522 | | | | | Biological name : | IL21R | | | | | Synonyms : | IL21R / interleukin 21 receptor / Q9HBE5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 16 | | Strand: | 1 | | Band: | p12.1 | | Gene start: | 27402162 | | Gene end: | 27452042 | | | | | Corresponding Affymetrix probe sets: | 219971_at (Human Genome U133 Plus 2.0 Array) 221658_s_at (Human Genome U133 Plus 2.0 Array) 237753_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000338010
Ensembl peptide - ENSP00000379103
Ensembl peptide - ENSP00000456707
NCBI entrez gene - 50615
See in Manteia.
OMIM - 605383
RefSeq - XM_017023257
RefSeq - NM_021798
RefSeq - NM_181078
RefSeq - NM_181079
RefSeq - XM_011545857
RefSeq - XM_011545858
RefSeq Peptide - NP_068570
RefSeq Peptide - NP_851564
RefSeq Peptide - NP_851565
swissprot - Q9HBE5
Ensembl - ENSG00000103522
| | | | | Related genetic diseases (OMIM): | 147050 - [IgE, elevated level of], 147050 | | | 615207 - Immunodeficiency 56, 615207 |
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)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| 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:0001394 | Cirrhosis | |
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| | HP:0001399 | Hepatic failure | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0002028 | Chronic diarrhea | |
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| | HP:0002090 | Pneumonia | |
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| | HP:0002110 | Bronchiectasis | |
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| | HP:0002721 | Immunodeficiency | |
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| | HP:0011108 | Recurrent sinusitis | "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| | HP:0030151 | Cholangitis | "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson] |
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| | HP:0200124 | Chronic hepatitis due to cryptospridium infection | |
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Interacting proteins (from Reactome)
| ENSG00000168610 | STAT3 / P40763 / signal transducer and activator of transcription 3 | / complex | | ENSG00000147168 | IL2RG / P31785 / interleukin 2 receptor subunit gamma | / complex | | ENSG00000162434 | JAK1 / P23458 / Janus kinase 1 | / complex | | ENSG00000138684 | IL21 / Q9HBE4 / interleukin 21 | / complex | | ENSG00000105639 | JAK3 / P52333 / Janus kinase 3 | / complex | | ENSG00000115415 | STAT1 / P42224 / signal transducer and activator of transcription 1 | / complex | | ENSG00000138378 | STAT4 / Q14765 / signal transducer and activator of transcription 4 | / complex |
0 s.
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