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UniProtKB - P38484 (INGR2_HUMAN)

Protein

Interferon gamma receptor 2

Gene

IFNGR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

  • interferon-gamma receptor activity Source: ProtInc
  • interleukin-10 receptor activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG signaling
SignaLinkiP38484
SIGNORiP38484

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon gamma receptor 2Imported
Short 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
Name:IFNGR2Imported
Synonyms:IFNGT1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000159128.14
HGNCiHGNC:5440 IFNGR2
MIMi147569 gene
neXtProtiNX_P38484

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 247ExtracellularSequence analysisAdd BLAST220
Transmembranei248 – 268HelicalSequence analysisAdd BLAST21
Topological domaini269 – 337CytoplasmicSequence analysisAdd BLAST69

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & 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 manifests early in life, with severe, often fatal, infection.
See also OMIM:614889
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075305114R → C in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications1
Natural variantiVAR_075306124S → F in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication1
Natural variantiVAR_075307141G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication1
Natural variantiVAR_023281168T → 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_023282222 – 230Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication9
Natural variantiVAR_075308227G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi110N → Q: Complete inhibition of transport to the cell membrane. 1 Publication1
Mutagenesisi137N → Q: Complete inhibition of transport to the cell membrane. 1 Publication1
Mutagenesisi168T → A or Q: Does not affect function. 1 Publication1
Mutagenesisi231N → Q: Complete inhibition of transport to the cell membrane. 1 Publication1
Mutagenesisi274 – 275Missing : Leads to overaccumulation on the cell membrane. 1 Publication2
Mutagenesisi276 – 277LI → AA: Leads to overaccumulation on the cell membrane. Enhances function. 1 Publication2
Mutagenesisi276 – 277Missing : Leads to overaccumulation on the cell membrane. Enhances function. 1 Publication2
Mutagenesisi276L → A: Leads to small increase in accumulation on the cell membrane. 1 Publication1
Mutagenesisi277I → A: Does not affect accumulation on the cell membrane. 1 Publication1
Mutagenesisi278 – 279Missing : Does not affect accumulation on the cell membrane. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3460
MalaCardsiIFNGR2
MIMi614889 phenotype
OpenTargetsiENSG00000159128
Orphaneti319589 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
PharmGKBiPA29676

Chemistry databases

ChEMBLiCHEMBL2364171
DrugBankiDB00033 Interferon gamma-1b

Polymorphism and mutation databases

BioMutaiIFNGR2
DMDMi145559548

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001101122 – 337Interferon gamma receptor 2Add BLAST316

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi56N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi85N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi86 ↔ 941 Publication
Glycosylationi110N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi137N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi209 ↔ 2341 Publication
Glycosylationi219N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi231N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP38484
PeptideAtlasiP38484
PRIDEiP38484
ProteomicsDBi55297

PTM databases

iPTMnetiP38484
PhosphoSitePlusiP38484

Expressioni

Tissue specificityi

Expressed in T-cells (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000159128 Expressed in 233 organ(s), highest expression level in blood
CleanExiHS_IFNGR2
ExpressionAtlasiP38484 baseline and differential
GenevisibleiP38484 HS

Organism-specific databases

HPAiHPA001535

Interactioni

Subunit structurei

Heterodimer with IFNGR1, to form the IFNG receptor complex (PubMed:7615558). Interacts (via intracellular domain) with JAK2 (PubMed:7615558, PubMed:7673114).2 Publications

Protein-protein interaction databases

BioGridi109682, 7 interactors
IntActiP38484, 29 interactors
STRINGi9606.ENSP00000290219

Structurei

Secondary structure

1337
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP38484
SMRiP38484
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 129Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini142 – 240Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST99

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi276 – 277Dileucine internalization motif1 Publication2

Sequence similaritiesi

Belongs to the type II cytokine receptor family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVC9 Eukaryota
ENOG410YR1U LUCA
GeneTreeiENSGT00530000063449
HOGENOMiHOG000013157
HOVERGENiHBG052129
InParanoidiP38484
KOiK05133
PhylomeDBiP38484
TreeFamiTF337223

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR015373 Interferon/interleukin_rcp_dom
PfamiView protein in Pfam
PF09294 Interfer-bind, 1 hit
PF01108 Tissue_fac, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.iShow all

P38484-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:337
Mass (Da):37,806
Last modified:March 6, 2007 - v2
Checksum:i18C68BAF7D91B8AA
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EUY1E7EUY1_HUMAN
Interferon gamma receptor 2
IFNGR2
356Annotation score:
B5MCZ0B5MCZ0_HUMAN
Interferon gamma receptor 2 (Interf...
IFNGR2 hCG_401179
258Annotation score:
A0A0G2JLD7A0A0G2JLD7_HUMAN
Interferon gamma receptor 2
IFNGR2
332Annotation score:
A0A0G2JLE8A0A0G2JLE8_HUMAN
Interferon gamma receptor 2
IFNGR2
330Annotation score:
H7C1V5H7C1V5_HUMAN
Interferon gamma receptor 2
IFNGR2
60Annotation score:
F8WF11F8WF11_HUMAN
Interferon gamma receptor 2
IFNGR2
70Annotation score:
F8WE34F8WE34_HUMAN
Interferon gamma receptor 2
IFNGR2
37Annotation score:
A0A0G2JLC6A0A0G2JLC6_HUMAN
Interferon gamma receptor 2
IFNGR2
46Annotation score:
A0A0G2JLE2A0A0G2JLE2_HUMAN
Interferon gamma receptor 2
IFNGR2
13Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02000358T → R1 PublicationCorresponds to variant dbSNP:rs4986958EnsemblClinVar.1
Natural variantiVAR_00271864Q → R2 PublicationsCorresponds to variant dbSNP:rs9808753Ensembl.1
Natural variantiVAR_075305114R → C in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications1
Natural variantiVAR_075306124S → F in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication1
Natural variantiVAR_075307141G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 1 Publication1
Natural variantiVAR_021383147E → K1 PublicationCorresponds to variant dbSNP:rs17878639Ensembl.1
Natural variantiVAR_023281168T → 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_021384182K → E1 PublicationCorresponds to variant dbSNP:rs17878711EnsemblClinVar.1
Natural variantiVAR_023282222 – 230Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication9
Natural variantiVAR_075308227G → R in IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG. 2 Publications1

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
CCDSiCCDS33544.1
PIRiI38500
RefSeqiNP_005525.2, NM_005534.3
UniGeneiHs.634632

Genome annotation databases

EnsembliENST00000290219; ENSP00000290219; ENSG00000159128
ENST00000576463; ENSP00000458487; ENSG00000262795
GeneIDi3460
KEGGihsa:3460
UCSCiuc002yrp.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
CCDSiCCDS33544.1
PIRiI38500
RefSeqiNP_005525.2, NM_005534.3
UniGeneiHs.634632

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EH1X-ray1.80A28-247[»]
ProteinModelPortaliP38484
SMRiP38484
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109682, 7 interactors
IntActiP38484, 29 interactors
STRINGi9606.ENSP00000290219

Chemistry databases

ChEMBLiCHEMBL2364171
DrugBankiDB00033 Interferon gamma-1b

PTM databases

iPTMnetiP38484
PhosphoSitePlusiP38484

Polymorphism and mutation databases

BioMutaiIFNGR2
DMDMi145559548

Proteomic databases

PaxDbiP38484
PeptideAtlasiP38484
PRIDEiP38484
ProteomicsDBi55297

Protocols and materials databases

DNASUi3460
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290219; ENSP00000290219; ENSG00000159128
ENST00000576463; ENSP00000458487; ENSG00000262795
GeneIDi3460
KEGGihsa:3460
UCSCiuc002yrp.4 human

Organism-specific databases

CTDi3460
DisGeNETi3460
EuPathDBiHostDB:ENSG00000159128.14
GeneCardsiIFNGR2
HGNCiHGNC:5440 IFNGR2
HPAiHPA001535
MalaCardsiIFNGR2
MIMi147569 gene
614889 phenotype
neXtProtiNX_P38484
OpenTargetsiENSG00000159128
Orphaneti319589 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
PharmGKBiPA29676
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVC9 Eukaryota
ENOG410YR1U LUCA
GeneTreeiENSGT00530000063449
HOGENOMiHOG000013157
HOVERGENiHBG052129
InParanoidiP38484
KOiK05133
PhylomeDBiP38484
TreeFamiTF337223

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG signaling
SignaLinkiP38484
SIGNORiP38484

Miscellaneous databases

ChiTaRSiIFNGR2 human
GenomeRNAii3460
PROiPR:P38484
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159128 Expressed in 233 organ(s), highest expression level in blood
CleanExiHS_IFNGR2
ExpressionAtlasiP38484 baseline and differential
GenevisibleiP38484 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR015373 Interferon/interleukin_rcp_dom
PfamiView protein in Pfam
PF09294 Interfer-bind, 1 hit
PF01108 Tissue_fac, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiINGR2_HUMAN
AccessioniPrimary (citable) accession number: P38484
Secondary accession number(s): Q9BTL5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: March 6, 2007
Last modified: September 12, 2018
This is version 173 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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