IFNGR2
Interferon gamma receptor 2
Also known as: AF-1, IFNGT1, INGR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P38484
- Gene
- IFNGR2
- Ensembl
- ENSG00000159128
- Chromosome
- 21
- Canonical length
- 337 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Golgi apparatus
OverviewNCBI 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), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
337 residues, UniProt reviewed canonical sequence.
>P38484|IFNGR2
1 MRPTLLWSLL LLLGVFAAAA AAPPDPLSQL PAPQHPKIRL YNAEQVLSWE PVALSNSTRP
61 VVYQVQFKYT DSKWFTADIM SIGVNCTQIT ATECDFTAAS PSAGFPMDFN VTLRLRAELG
121 ALHSAWVTMP WFQHYRNVTV GPPENIEVTP GEGSLIIRFS SPFDIADTST AFFCYYVHYW
181 EKGGIQQVKG PFRSNSISLD NLKPSRVYCL QVQAQLLWNK SNIFRVGHLS NISCYETMAD
241 ASTELQQVIL ISVGTFSLLS VLAGACFFLV LKYRGLIKYW FHTPPSIPLQ IEEYLKDPTQ
301 PILEALDKDS SPKDDVWDSV SIISFPEKEQ EDVLQTLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFNGR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 80 nTPM
Expression across tissuesHPA
Tissue
- spleen: 80 nTPM
- adipose tissue: 73 nTPM
- esophagus: 68 nTPM
- breast: 66 nTPM
- salivary gland: 65 nTPM
- lung: 62 nTPM
Single-cell type
- neutrophils: 217 nCPM
- microglia: 174 nCPM
- monocytes: 94 nCPM
- renal collecting duct intercalated cells: 86 nCPM
- papillary tip epithelial cells: 82 nCPM
- urothelial cells: 81 nCPM
Immune cell
- neutrophil: 671 nTPM
- non-classical monocyte: 318 nTPM
- classical monocyte: 286 nTPM
- intermediate monocyte: 282 nTPM
- basophil: 226 nTPM
- total PBMC: 199 nTPM
Brain region
- white matter: 47 nTPM
- hypothalamus: 43 nTPM
- spinal cord: 39 nTPM
- thalamus: 38 nTPM
- medulla oblongata: 37 nTPM
- cerebral cortex: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFNGR2.
Disease | AllUniProt
Conditions IFNGR2 is implicated in, by any mechanism.
- Immunodeficiency 28 (IMD28) MIM:614889
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 284 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 28
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.34
- gnomAD pLI
- 0.95
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell surface receptor signaling pathway
- cellular response to virus
- cytokine-mediated signaling pathway
- defense response to virus
- microglial cell activation
- positive regulation of glutamate receptor signaling pathway
- response to virus
- type II interferon-mediated signaling pathway
- type III interferon-mediated signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFNGR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IFNGR2 as an antibody target. Whether an autoantibody or antibody against IFNGR2 could matter depends on whether native IFNGR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFNGR2 is annotated at the cell surface, where native IFNGR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IFNGR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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