ENSG00000159128


Homo sapiens

Features
Gene ID: ENSG00000159128
  
Biological name :IFNGR2
  
Synonyms : IFNGR2 / interferon gamma receptor 2 / P38484
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: 1
Band: q22.11
Gene start: 33402896
Gene end: 33479348
  
Corresponding Affymetrix probe sets: 201642_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000407541
Ensembl peptide - ENSP00000371425
Ensembl peptide - ENSP00000442735
Ensembl peptide - ENSP00000385044
Ensembl peptide - ENSP00000402629
Ensembl peptide - ENSP00000290219
NCBI entrez gene - 3460     See in Manteia.
OMIM - 147569
RefSeq - XM_011529554
RefSeq - NM_005534
RefSeq - XM_005260969
RefSeq - XM_011529553
RefSeq Peptide - NP_001316057
RefSeq Peptide - NP_005525
swissprot - E7EUY1
swissprot - P38484
swissprot - B5MCZ0
swissprot - A8K881
swissprot - F8WF11
swissprot - F8WE34
swissprot - H7C1V5
Ensembl - ENSG00000159128
  
Related genetic diseases (OMIM): 614889 - Immunodeficiency 28, mycobacteriosis, 614889
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
 IFNGR2ENSGALG00000032660Gallus gallus
 Ifngr2ENSMUSG00000022965Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IL10RB / Q08334 / interleukin 10 receptor subunit betaENSG0000024364623
IFNAR1 / P17181 / interferon alpha and beta receptor subunit 1ENSG0000014216620


Protein motifs (from Interpro)
Interpro ID Name
 IPR003961  Fibronectin type III
 IPR013783  Immunoglobulin-like fold
 IPR015373  Interferon/interleukin receptor domain
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0009615 response to virus TAS
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060334 regulation of interferon-gamma-mediated signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 molecular_functionGO:0004906 interferon-gamma receptor activity TAS
 molecular_functionGO:0004920 interleukin-10 receptor activity IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Interferon gamma signaling
Regulation of IFNG 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:0002721 Immunodeficiency 
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 HP:0011274 Recurrent mycobacterial infections "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / reaction
 ENSG00000027697 IFNGR1 / P15260 / interferon gamma receptor 1  / complex
 ENSG00000111537 IFNG / P01579 / interferon gamma  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction
 ENSG00000159128 IFNGR2 / P38484 / interferon gamma receptor 2  / complex
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction
 ENSG00000163932 PRKCD / Q05655 / protein kinase C delta  / reaction
 ENSG00000184557 SOCS3 / O14543 / suppressor of cytokine signaling 3  / reaction / complex
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction
 ENSG00000185338 SOCS1 / O15524 / suppressor of cytokine signaling 1  / complex / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction






 

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