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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

Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2.

GO - Molecular functioni

  • cytokine receptor activity Source: GO_Central
  • interferon-gamma receptor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_24980. Regulation of IFNG signaling.
REACT_25078. Interferon gamma signaling.
SignaLinkiP38484.

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon gamma receptor 2
Short name:
IFN-gamma receptor 2
Short name:
IFN-gamma-R2
Alternative name(s):
Interferon gamma receptor accessory factor 1
Short name:
AF-1
Interferon gamma transducer 1
Gene namesi
Name:IFNGR2
Synonyms:IFNGT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 21, Unplaced

Organism-specific databases

HGNCiHGNC:5440. IFNGR2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 247220ExtracellularSequence AnalysisAdd
BLAST
Transmembranei248 – 26821HelicalSequence AnalysisAdd
BLAST
Topological domaini269 – 33769CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • integral component of membrane Source: GO_Central
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 28 (IMD28)1 Publication

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681T → N in IMD28; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation. 1 Publication
VAR_023281
Natural varianti222 – 2309Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication
VAR_023282

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi168 – 1681T → A or Q: Does not affect function. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614889. phenotype.
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

DrugBankiDB00033. Interferon gamma-1b.

Polymorphism and mutation databases

BioMutaiIFNGR2.
DMDMi145559548.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Chaini28 – 337310Interferon gamma receptor 2PRO_0000011011Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi56 – 561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi137 – 1371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi231 – 2311N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP38484.
PRIDEiP38484.

Expressioni

Gene expression databases

BgeeiP38484.
CleanExiHS_IFNGR2.
ExpressionAtlasiP38484. baseline and differential.
GenevestigatoriP38484.

Organism-specific databases

HPAiHPA001535.

Interactioni

Protein-protein interaction databases

BioGridi109682. 6 interactions.
IntActiP38484. 2 interactions.
MINTiMINT-1508054.
STRINGi9606.ENSP00000290219.

Structurei

3D structure databases

ProteinModelPortaliP38484.
SMRiP38484. Positions 30-240.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 12999Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini142 – 24099Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiNOG42506.
GeneTreeiENSGT00770000120678.
HOGENOMiHOG000013157.
HOVERGENiHBG052129.
InParanoidiP38484.
KOiK05133.
PhylomeDBiP38484.
TreeFamiTF337223.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR015373. Interferon_alpha/beta_rcpt_bsu.
[Graphical view]
PfamiPF09294. Interfer-bind. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581T → R.1 Publication
Corresponds to variant rs4986958 [ dbSNP | Ensembl ].
VAR_020003
Natural varianti64 – 641Q → R.2 Publications
Corresponds to variant rs9808753 [ dbSNP | Ensembl ].
VAR_002718
Natural varianti147 – 1471E → K.1 Publication
Corresponds to variant rs17878639 [ dbSNP | Ensembl ].
VAR_021383
Natural varianti168 – 1681T → N in IMD28; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation. 1 Publication
VAR_023281
Natural varianti182 – 1821K → E.1 Publication
Corresponds to variant rs17878711 [ dbSNP | Ensembl ].
VAR_021384
Natural varianti222 – 2309Missing in IMD28; affects receptor trafficking to the cell surface. 1 Publication
VAR_023282

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

ProteinModelPortaliP38484.
SMRiP38484. Positions 30-240.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109682. 6 interactions.
IntActiP38484. 2 interactions.
MINTiMINT-1508054.
STRINGi9606.ENSP00000290219.

Chemistry

ChEMBLiCHEMBL2364171.
DrugBankiDB00033. Interferon gamma-1b.

Polymorphism and mutation databases

BioMutaiIFNGR2.
DMDMi145559548.

Proteomic databases

PaxDbiP38484.
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.
GeneCardsiGC21P034757.
HGNCiHGNC:5440. IFNGR2.
HPAiHPA001535.
MIMi147569. gene.
614889. phenotype.
neXtProtiNX_P38484.
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

eggNOGiNOG42506.
GeneTreeiENSGT00770000120678.
HOGENOMiHOG000013157.
HOVERGENiHBG052129.
InParanoidiP38484.
KOiK05133.
PhylomeDBiP38484.
TreeFamiTF337223.

Enzyme and pathway databases

ReactomeiREACT_24980. Regulation of IFNG signaling.
REACT_25078. Interferon gamma signaling.
SignaLinkiP38484.

Miscellaneous databases

ChiTaRSiIFNGR2. human.
GenomeRNAii3460.
NextBioi13632.
PROiP38484.
SOURCEiSearch...

Gene expression databases

BgeeiP38484.
CleanExiHS_IFNGR2.
ExpressionAtlasiP38484. baseline and differential.
GenevestigatoriP38484.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR015373. Interferon_alpha/beta_rcpt_bsu.
[Graphical view]
PfamiPF09294. Interfer-bind. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and sequence of an accessory factor required for activation of the human interferon gamma receptor."
    Soh J., Donnelly R.J., Kotenko S., Mariano T.M., Cook J.R., Wang N., Emanuel S.L., Schwartz B., Miki T., Pestka S.
    Cell 76:793-802(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-64.
    Tissue: Lung fibroblast.
  2. SeattleSNPs variation discovery resource
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-58; LYS-147 AND GLU-182.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-64.
    Tissue: Skin.
  4. "The structure of the gene for the second chain of the human interferon gamma receptor."
    Rhee S., Ebensperger C., Dembic Z., Pestka S.
    J. Biol. Chem. 271:28947-28952(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-24.
  5. Cited for: VARIANTS IMD28 ASN-168 AND 222-ASN--SER-230 DEL, MUTAGENESIS OF THR-168, CHARACTERIZATION OF VARIANTS IMD28 ASN-168 AND 222-ASN--SER-230 DEL.

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: April 29, 2015
This is version 146 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.