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Protein

Interferon gamma receptor 2

Gene

IFNGR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • cell surface receptor signaling pathway Source: ProtInc
  • interferon-gamma-mediated signaling pathway Source: Reactome
  • regulation of interferon-gamma-mediated signaling pathway Source: Reactome
  • response to virus Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159128-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:5440. IFNGR2.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • cytoplasmic vesicle membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: UniProtKB
Complete GO annotation...

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 rs74315444dbSNPEnsembl.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
Mutagenesisi168T → A or Q: Does not affect function. 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...)Sequence analysis1
Glycosylationi85N-linked (GlcNAc...)Sequence analysis1
Glycosylationi110N-linked (GlcNAc...)Sequence analysis1
Glycosylationi137N-linked (GlcNAc...)Sequence analysis1
Glycosylationi219N-linked (GlcNAc...)Sequence analysis1
Glycosylationi231N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP38484.
PeptideAtlasiP38484.
PRIDEiP38484.

PTM databases

iPTMnetiP38484.
PhosphoSitePlusiP38484.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000159128.
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. 6 interactors.
IntActiP38484. 2 interactors.
MINTiMINT-1508054.
STRINGi9606.ENSP00000290219.

Structurei

Secondary structure

1337
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi37 – 41Combined sources5
Beta strandi44 – 48Combined sources5
Beta strandi62 – 68Combined sources7
Helixi79 – 82Combined sources4
Beta strandi87 – 89Combined sources3
Beta strandi91 – 95Combined sources5
Beta strandi109 – 119Combined sources11
Beta strandi122 – 124Combined sources3
Helixi134 – 137Combined sources4
Beta strandi144 – 151Combined sources8
Beta strandi154 – 160Combined sources7
Turni168 – 170Combined sources3
Beta strandi171 – 181Combined sources11
Beta strandi187 – 199Combined sources13
Beta strandi207 – 218Combined sources12
Beta strandi224 – 226Combined sources3
Beta strandi233 – 236Combined sources4

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...

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
Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVC9. Eukaryota.
ENOG410YR1U. LUCA.
GeneTreeiENSGT00820000127138.
HOGENOMiHOG000013157.
HOVERGENiHBG052129.
InParanoidiP38484.
KOiK05133.
PhylomeDBiP38484.
TreeFamiTF337223.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR015373. Interferon/interleukin_rcp_dom.
[Graphical view]
PfamiPF09294. Interfer-bind. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02000358T → R.1 PublicationCorresponds to variant rs4986958dbSNPEnsembl.1
Natural variantiVAR_00271864Q → R.2 PublicationsCorresponds to variant rs9808753dbSNPEnsembl.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 → K.1 PublicationCorresponds to variant rs17878639dbSNPEnsembl.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 rs74315444dbSNPEnsembl.1
Natural variantiVAR_021384182K → E.1 PublicationCorresponds to variant rs17878711dbSNPEnsembl.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

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. 6 interactors.
IntActiP38484. 2 interactors.
MINTiMINT-1508054.
STRINGi9606.ENSP00000290219.

Chemistry databases

ChEMBLiCHEMBL2364171.
DrugBankiDB00033. Interferon gamma-1b.

PTM databases

iPTMnetiP38484.
PhosphoSitePlusiP38484.

Polymorphism and mutation databases

BioMutaiIFNGR2.
DMDMi145559548.

Proteomic databases

PaxDbiP38484.
PeptideAtlasiP38484.
PRIDEiP38484.

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.
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.
GeneTreeiENSGT00820000127138.
HOGENOMiHOG000013157.
HOVERGENiHBG052129.
InParanoidiP38484.
KOiK05133.
PhylomeDBiP38484.
TreeFamiTF337223.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159128-MONOMER.
ReactomeiR-HSA-877300. Interferon gamma signaling.
R-HSA-877312. Regulation of IFNG signaling.
SignaLinkiP38484.
SIGNORiP38484.

Miscellaneous databases

ChiTaRSiIFNGR2. human.
GenomeRNAii3460.
PROiP38484.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159128.
CleanExiHS_IFNGR2.
ExpressionAtlasiP38484. baseline and differential.
GenevisibleiP38484. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR015373. Interferon/interleukin_rcp_dom.
[Graphical view]
PfamiPF09294. Interfer-bind. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiINGR2_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 162 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.