ENSG00000027697
Homo sapiens | |
Features
| Gene ID: | ENSG00000027697 | | | | | Biological name : | IFNGR1 | | | | | Synonyms : | IFNGR1 / interferon gamma receptor 1 / P15260 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | -1 | | Band: | q23.3 | | Gene start: | 137197484 | | Gene end: | 137219449 | | | | | Corresponding Affymetrix probe sets: | 202727_s_at (Human Genome U133 Plus 2.0 Array) 211676_s_at (Human Genome U133 Plus 2.0 Array) 242903_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000496387
Ensembl peptide - ENSP00000496468
Ensembl peptide - ENSP00000496549
Ensembl peptide - ENSP00000356713
Ensembl peptide - ENSP00000389249
Ensembl peptide - ENSP00000394230
Ensembl peptide - ENSP00000494069
Ensembl peptide - ENSP00000494493
Ensembl peptide - ENSP00000495103
Ensembl peptide - ENSP00000495272
Ensembl peptide - ENSP00000495934
NCBI entrez gene - 3459
See in Manteia.
OMIM - 107470
RefSeq - XM_017010827
RefSeq - XM_011535793
RefSeq - XM_011535794
RefSeq - XM_006715471
RefSeq - XM_006715470
RefSeq - NM_000416
RefSeq Peptide - NP_000407
swissprot - Q5TFD1
swissprot - P15260
swissprot - Q5TFC9
swissprot - A0A0S2Z3Y2
Ensembl - ENSG00000027697
| | | | | Related genetic diseases (OMIM): | 209950 - Immunodeficiency 27A, mycobacteriosis, AR, 209950 | | | 615978 - Immunodeficiency 27B, mycobacteriosis, AD, 615978 | | | 600263 - {H. pylori infection, susceptibility to}, 600263 | | | 610424 - {Hepatitis B virus infection, susceptibility to}, 610424 | | | 607948 - {Tuberculosis infection, protection against}, 607948 |
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:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | 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:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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| | HP:0001871 | Hematological abnormality | |
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| | HP:0002721 | Immunodeficiency | |
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| | HP:0002754 | Osteomyelitis | |
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| | HP:0005661 | Salmonella osteomyelitis | |
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| | HP:0008940 | Generalized lymphadenopathy | |
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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)
| ENSG00000058404 | CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta | / reaction | | ENSG00000148660 | CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma | / 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 | | ENSG00000162434 | JAK1 / P23458 / Janus kinase 1 | / complex | | 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 | / reaction / complex | | ENSG00000070808 | CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha | / reaction | | ENSG00000179295 | PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11 | / reaction | | ENSG00000115415 | STAT1 / P42224 / signal transducer and activator of transcription 1 | / complex / reaction | | ENSG00000096968 | JAK2 / O60674 / Janus kinase 2 | / complex | | ENSG00000111537 | IFNG / P01579 / interferon gamma | / reaction / complex | | ENSG00000027697 | IFNGR1 / P15260 / interferon gamma receptor 1 | / complex | | ENSG00000196396 | PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1 | / reaction |
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