IFNGR2 (interferon gamma receptor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3460
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon gamma receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFNGR2
Synonyms (NCBI Gene) Gene synonyms aliases
AF-1, IFGR2, IFNGT1, IMD28
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD)
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs74315444 C>A Pathogenic Missense variant, coding sequence variant
rs398122890 ->ACAATG Pathogenic Inframe insertion, coding sequence variant
rs587776822 AG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(64)
miRTarBase ID miRNA Experiments Reference
MIRT027145 hsa-miR-103a-3p Sequencing 20371350
MIRT030035 hsa-miR-26b-5p Microarray 19088304
MIRT046534 hsa-miR-15b-5p CLASH 23622248
MIRT036154 hsa-miR-1296-5p CLASH 23622248
MIRT711317 hsa-miR-654-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001774 Process Microglial cell activation IEA
GO:0004896 Function Cytokine receptor activity IBA
GO:0004906 Function Type II interferon receptor activity IDA 20015550
GO:0004906 Function Type II interferon receptor activity TAS 9616207
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147569 5440 ENSG00000159128
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P38484
Protein name Interferon gamma receptor 2 (IFN-gamma receptor 2) (IFN-gamma-R2) (Interferon gamma receptor accessory factor 1) (AF-1) (Interferon gamma receptor beta-chain) (IFN-gamma-R-beta) (Interferon gamma transducer 1)
Protein function Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:
PDB 5EH1 , 6E3K , 6E3L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01108 Tissue_fac 4 → 126 Tissue factor Family
PF09294 Interfer-bind 138 → 238 Interferon-alpha/beta receptor, fibronectin type III Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in T-cells (at protein level). {ECO:0000269|PubMed:10605012}.
Sequence
Sequence length 337
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
HIF-1 signaling pathway
Necroptosis
Osteoclast differentiation
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
Leishmaniasis
Chagas disease
Toxoplasmosis
Tuberculosis
Influenza A
Herpes simplex virus 1 infection
Pathways in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease 		  Interferon gamma signaling
Regulation of IFNG signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency 28 rs587776822, rs74315444, rs587776823, rs398122890 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acute Myeloid Leukemia Acute myeloid leukemia Low Expression of IFNGR2 in Cancer Tissues Correlates With Better Survival of AML and KIRC Patients 31921143 CBGDA
Crohn Disease Crohn's disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 29848382
Anodontia Associate 36321611
Anus Neoplasms Associate 23609590
Arthritis Rheumatoid Associate 25708927
Asthma Associate 19247692
Autoimmune Diseases Associate 24023707
Breast Neoplasms Associate 23996684, 27927249
Carcinoma Renal Cell Associate 31921143
Chronic Periodontitis Associate 30304122
Colonic Neoplasms Associate 37370088