Gene Gene information from NCBI Gene database.
Entrez ID 3460
Gene name Interferon gamma receptor 2
Gene symbol IFNGR2
Synonyms (NCBI Gene)
AF-1IFGR2IFNGT1IMD28
Chromosome 21
Chromosome location 21q22.11
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147569 5440 ENSG00000159128
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 28 Likely pathogenic; Pathogenic rs1316638883, rs2123368937, rs2123370265, rs587776822, rs74315444, rs587776823, rs398122890, rs1319389333, rs2083655919 RCV001376896
RCV001389082
RCV001728186
RCV000015847
RCV000015848
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 29848382 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anodontia Anodontia Pubtator 36321611 Associate
★☆☆☆☆
Found in Text Mining only
Anus Neoplasms Anus neoplasm Pubtator 23609590 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 25708927 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19247692 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25994869
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30369317
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 24023707 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 20952689
★☆☆☆☆
Found in Text Mining only