UniProtKB - P38484 (INGR2_HUMAN)
Protein
Interferon gamma receptor 2
Gene
IFNGR2
Organism
Homo sapiens (Human)
Status
Functioni
Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).4 Publications
GO - Molecular functioni
- cytokine receptor activity Source: GO_Central
- interferon-gamma receptor activity Source: ProtInc
GO - Biological processi
- cell surface receptor signaling pathway Source: ProtInc
- cytokine-mediated signaling pathway Source: GO_Central
- interferon-gamma-mediated signaling pathway Source: Reactome
- regulation of interferon-gamma-mediated signaling pathway Source: Reactome
- response to virus Source: ProtInc
Keywordsi
Molecular function | Receptor |
Enzyme and pathway databases
PathwayCommonsi | P38484 |
Reactomei | R-HSA-877300, Interferon gamma signaling R-HSA-877312, Regulation of IFNG signaling |
SignaLinki | P38484 |
SIGNORi | P38484 |
Names & Taxonomyi
Protein namesi | Recommended name: Interferon gamma receptor 2ImportedShort name: IFN-gamma receptor 2 Short name: IFN-gamma-R2 Alternative name(s): Interferon gamma receptor accessory factor 11 Publication Short name: AF-11 Publication Interferon gamma receptor beta-chain1 Publication Short name: IFN-gamma-R-beta1 Publication Interferon gamma transducer 1Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000159128.14 |
HGNCi | HGNC:5440, IFNGR2 |
MIMi | 147569, gene |
neXtProti | NX_P38484 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Plasma membrane
- Cell membrane 3 Publications; Single-pass type I membrane protein Sequence analysis
Golgi apparatus
- Golgi apparatus membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Other locations
- Cytoplasmic vesicle membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
- Cytoplasm 1 Publication
Note: Has low cell surface expression and high cytoplasmic expression in T cells. The bias towards cytoplasmic expression may be due to ligand-independent receptor internalization and recycling.2 Publications
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi membrane Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: UniProtKB
Other locations
- cytoplasmic vesicle membrane Source: UniProtKB-SubCell
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 28 – 247 | ExtracellularSequence analysisAdd BLAST | 220 | |
Transmembranei | 248 – 268 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 269 – 337 | CytoplasmicSequence analysisAdd BLAST | 69 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Immunodeficiency 28 (IMD28)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075305 | 114 | R → C in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 PublicationsCorresponds to variant dbSNP:rs1243506079Ensembl. | 1 | |
Natural variantiVAR_075306 | 124 | S → F in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication | 1 | |
Natural variantiVAR_075307 | 141 | G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 PublicationCorresponds to variant dbSNP:rs1196094724Ensembl. | 1 | |
Natural variantiVAR_023281 | 168 | T → N in IMD28; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs74315444EnsemblClinVar. | 1 | |
Natural variantiVAR_023282 | 222 – 230 | Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication | 9 | |
Natural variantiVAR_075308 | 227 | G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 110 | N → Q: Complete inhibition of transport to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 137 | N → Q: Complete inhibition of transport to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 168 | T → A or Q: Does not affect function. 1 Publication | 1 | |
Mutagenesisi | 231 | N → Q: Complete inhibition of transport to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 274 – 275 | Missing : Leads to overaccumulation on the cell membrane. 1 Publication | 2 | |
Mutagenesisi | 276 – 277 | LI → AA: Leads to overaccumulation on the cell membrane. Enhances function. 1 Publication | 2 | |
Mutagenesisi | 276 – 277 | Missing : Leads to overaccumulation on the cell membrane. Enhances function. 1 Publication | 2 | |
Mutagenesisi | 276 | L → A: Leads to small increase in accumulation on the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 277 | I → A: Does not affect accumulation on the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 278 – 279 | Missing : Does not affect accumulation on the cell membrane. 1 Publication | 2 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3460 |
MalaCardsi | IFNGR2 |
MIMi | 614889, phenotype |
OpenTargetsi | ENSG00000159128 |
Orphaneti | 319589, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319574, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319547, Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
PharmGKBi | PA29676 |
Miscellaneous databases
Pharosi | P38484, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2364171 |
DrugBanki | DB00033, Interferon gamma-1b |
Polymorphism and mutation databases
BioMutai | IFNGR2 |
DMDMi | 145559548 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000011011 | 22 – 337 | Interferon gamma receptor 2Add BLAST | 316 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 56 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 85 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 86 ↔ 94 | 1 Publication | ||
Glycosylationi | 110 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 137 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 209 ↔ 234 | 1 Publication | ||
Glycosylationi | 219 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 231 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | P38484 |
PaxDbi | P38484 |
PeptideAtlasi | P38484 |
PRIDEi | P38484 |
ProteomicsDBi | 55297 |
PTM databases
GlyGeni | P38484, 6 sites |
iPTMneti | P38484 |
PhosphoSitePlusi | P38484 |
Expressioni
Tissue specificityi
Expressed in T-cells (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000159128, Expressed in monocyte and 245 other tissues |
ExpressionAtlasi | P38484, baseline and differential |
Genevisiblei | P38484, HS |
Organism-specific databases
HPAi | ENSG00000159128, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP38484
Protein-protein interaction databases
BioGRIDi | 109682, 41 interactors |
IntActi | P38484, 37 interactors |
STRINGi | 9606.ENSP00000290219 |
Miscellaneous databases
RNActi | P38484, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P38484 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 31 – 129 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 99 | |
Domaini | 142 – 240 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 99 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 276 – 277 | Dileucine internalization motif1 Publication | 2 |
Sequence similaritiesi
Belongs to the type II cytokine receptor family.Curated
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S6E7, Eukaryota |
GeneTreei | ENSGT00940000160503 |
InParanoidi | P38484 |
OrthoDBi | 965164at2759 |
PhylomeDBi | P38484 |
TreeFami | TF337223 |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR013783, Ig-like_fold IPR015373, Interferon/interleukin_rcp_dom |
Pfami | View protein in Pfam PF09294, Interfer-bind, 1 hit PF01108, Tissue_fac, 1 hit |
SUPFAMi | SSF49265, SSF49265, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
P38484-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MRPTLLWSLL LLLGVFAAAA AAPPDPLSQL PAPQHPKIRL YNAEQVLSWE
60 70 80 90 100
PVALSNSTRP VVYQVQFKYT DSKWFTADIM SIGVNCTQIT ATECDFTAAS
110 120 130 140 150
PSAGFPMDFN VTLRLRAELG ALHSAWVTMP WFQHYRNVTV GPPENIEVTP
160 170 180 190 200
GEGSLIIRFS SPFDIADTST AFFCYYVHYW EKGGIQQVKG PFRSNSISLD
210 220 230 240 250
NLKPSRVYCL QVQAQLLWNK SNIFRVGHLS NISCYETMAD ASTELQQVIL
260 270 280 290 300
ISVGTFSLLS VLAGACFFLV LKYRGLIKYW FHTPPSIPLQ IEEYLKDPTQ
310 320 330
PILEALDKDS SPKDDVWDSV SIISFPEKEQ EDVLQTL
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EUY1 | E7EUY1_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 356 | Annotation score: | ||
F8WF11 | F8WF11_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 70 | Annotation score: | ||
B5MCZ0 | B5MCZ0_HUMAN | Interferon gamma receptor 2 | IFNGR2 hCG_401179 | 258 | Annotation score: | ||
H7C1V5 | H7C1V5_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 60 | Annotation score: | ||
A0A0G2JLD7 | A0A0G2JLD7_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 332 | Annotation score: | ||
A0A0G2JLE8 | A0A0G2JLE8_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 330 | Annotation score: | ||
F8WE34 | F8WE34_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 37 | Annotation score: | ||
A0A0G2JLC6 | A0A0G2JLC6_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 46 | Annotation score: | ||
A0A0G2JLE2 | A0A0G2JLE2_HUMAN | Interferon gamma receptor 2 | IFNGR2 | 13 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020003 | 58 | T → R1 PublicationCorresponds to variant dbSNP:rs4986958EnsemblClinVar. | 1 | |
Natural variantiVAR_002718 | 64 | Q → R2 PublicationsCorresponds to variant dbSNP:rs9808753Ensembl. | 1 | |
Natural variantiVAR_075305 | 114 | R → C in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 PublicationsCorresponds to variant dbSNP:rs1243506079Ensembl. | 1 | |
Natural variantiVAR_075306 | 124 | S → F in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication | 1 | |
Natural variantiVAR_075307 | 141 | G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 PublicationCorresponds to variant dbSNP:rs1196094724Ensembl. | 1 | |
Natural variantiVAR_021383 | 147 | E → K1 PublicationCorresponds to variant dbSNP:rs17878639EnsemblClinVar. | 1 | |
Natural variantiVAR_023281 | 168 | T → N in IMD28; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs74315444EnsemblClinVar. | 1 | |
Natural variantiVAR_021384 | 182 | K → E1 PublicationCorresponds to variant dbSNP:rs17878711EnsemblClinVar. | 1 | |
Natural variantiVAR_023282 | 222 – 230 | Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication | 9 | |
Natural variantiVAR_075308 | 227 | G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U05875 mRNA Translation: AAA16955.1 U05877 mRNA Translation: AAA16956.1 AY644470 Genomic DNA Translation: AAT45458.1 BC003624 mRNA Translation: AAH03624.1 U68755 Genomic DNA Translation: AAC52066.1 |
CCDSi | CCDS33544.1 |
PIRi | I38500 |
RefSeqi | NP_005525.2, NM_005534.3 |
Genome annotation databases
Ensembli | ENST00000290219; ENSP00000290219; ENSG00000159128 ENST00000576463; ENSP00000458487; ENSG00000262795 |
GeneIDi | 3460 |
KEGGi | hsa:3460 |
UCSCi | uc002yrp.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
IFNGR2base IFNGR2 mutation db |
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U05875 mRNA Translation: AAA16955.1 U05877 mRNA Translation: AAA16956.1 AY644470 Genomic DNA Translation: AAT45458.1 BC003624 mRNA Translation: AAH03624.1 U68755 Genomic DNA Translation: AAC52066.1 |
CCDSi | CCDS33544.1 |
PIRi | I38500 |
RefSeqi | NP_005525.2, NM_005534.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5EH1 | X-ray | 1.80 | A | 28-247 | [»] | |
6E3K | X-ray | 3.25 | E/I | 28-247 | [»] | |
6E3L | X-ray | 3.80 | E/I | 28-247 | [»] | |
SMRi | P38484 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109682, 41 interactors |
IntActi | P38484, 37 interactors |
STRINGi | 9606.ENSP00000290219 |
Chemistry databases
ChEMBLi | CHEMBL2364171 |
DrugBanki | DB00033, Interferon gamma-1b |
PTM databases
GlyGeni | P38484, 6 sites |
iPTMneti | P38484 |
PhosphoSitePlusi | P38484 |
Polymorphism and mutation databases
BioMutai | IFNGR2 |
DMDMi | 145559548 |
Proteomic databases
MassIVEi | P38484 |
PaxDbi | P38484 |
PeptideAtlasi | P38484 |
PRIDEi | P38484 |
ProteomicsDBi | 55297 |
Protocols and materials databases
Antibodypediai | 703, 401 antibodies |
DNASUi | 3460 |
Genome annotation databases
Ensembli | ENST00000290219; ENSP00000290219; ENSG00000159128 ENST00000576463; ENSP00000458487; ENSG00000262795 |
GeneIDi | 3460 |
KEGGi | hsa:3460 |
UCSCi | uc002yrp.4, human |
Organism-specific databases
CTDi | 3460 |
DisGeNETi | 3460 |
EuPathDBi | HostDB:ENSG00000159128.14 |
GeneCardsi | IFNGR2 |
HGNCi | HGNC:5440, IFNGR2 |
HPAi | ENSG00000159128, Low tissue specificity |
MalaCardsi | IFNGR2 |
MIMi | 147569, gene 614889, phenotype |
neXtProti | NX_P38484 |
OpenTargetsi | ENSG00000159128 |
Orphaneti | 319589, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319574, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319547, Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
PharmGKBi | PA29676 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S6E7, Eukaryota |
GeneTreei | ENSGT00940000160503 |
InParanoidi | P38484 |
OrthoDBi | 965164at2759 |
PhylomeDBi | P38484 |
TreeFami | TF337223 |
Enzyme and pathway databases
PathwayCommonsi | P38484 |
Reactomei | R-HSA-877300, Interferon gamma signaling R-HSA-877312, Regulation of IFNG signaling |
SignaLinki | P38484 |
SIGNORi | P38484 |
Miscellaneous databases
BioGRID-ORCSi | 3460, 15 hits in 848 CRISPR screens |
ChiTaRSi | IFNGR2, human |
GenomeRNAii | 3460 |
Pharosi | P38484, Tbio |
PROi | PR:P38484 |
RNActi | P38484, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159128, Expressed in monocyte and 245 other tissues |
ExpressionAtlasi | P38484, baseline and differential |
Genevisiblei | P38484, HS |
Family and domain databases
CDDi | cd00063, FN3, 1 hit |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR013783, Ig-like_fold IPR015373, Interferon/interleukin_rcp_dom |
Pfami | View protein in Pfam PF09294, Interfer-bind, 1 hit PF01108, Tissue_fac, 1 hit |
SUPFAMi | SSF49265, SSF49265, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | INGR2_HUMAN | |
Accessioni | P38484Primary (citable) accession number: P38484 Secondary accession number(s): Q9BTL5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1994 |
Last sequence update: | March 6, 2007 | |
Last modified: | December 2, 2020 | |
This is version 187 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations