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UniProtKB - P38484 (INGR2_HUMAN)

Entry version 178 (08 May 2019)
Sequence version 2 (06 Mar 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-877300 Interferon gamma signaling
R-HSA-877312 Regulation of IFNG signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P38484

SIGNOR Signaling Network Open Resource

More...SIGNORi		P38484

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IFNGR2Imported
Synonyms:IFNGT1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:5440 IFNGR2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		147569 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P38484

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 247ExtracellularSequence analysisAdd BLAST220
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei248 – 268HelicalSequence analysisAdd BLAST21
Topological domaini269 – 337CytoplasmicSequence analysisAdd BLAST69

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075305114R → 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_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 PublicationCorresponds to variant dbSNP:rs1196094724Ensembl.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_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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		3460

MalaCards human disease database

More...MalaCardsi		IFNGR2
MIMi614889 phenotype

Open Targets

More...OpenTargetsi		ENSG00000159128

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29676

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364171

Drug and drug target database

More...DrugBanki		DB00033 Interferon gamma-1b

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IFNGR2

Domain mapping of disease mutations (DMDM)

More...DMDMi		145559548

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001101122 – 337Interferon gamma receptor 2Add BLAST316

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi56N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi85N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P38484

PeptideAtlas

More...PeptideAtlasi		P38484

PRoteomics IDEntifications database

More...PRIDEi		P38484

ProteomicsDB human proteome resource

More...ProteomicsDBi		55297

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P38484

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P38484

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159128 Expressed in 233 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P38484 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P38484 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA001535

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		109682, 7 interactors

Protein interaction database and analysis system

More...IntActi		P38484, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000290219

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EH1X-ray1.80A28-247[»]
6E3KX-ray3.25E/I28-247[»]
6E3LX-ray3.80E/I28-247[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P38484

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 129Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini142 – 240Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST99

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi276 – 277Dileucine internalization motif1 Publication2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type II cytokine receptor family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IVC9 Eukaryota
ENOG410YR1U LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160503

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000013157

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P38484

KEGG Orthology (KO)

More...KOi		K05133

Database of Orthologous Groups

More...OrthoDBi		965164at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P38484

TreeFam database of animal gene trees

More...TreeFami		TF337223

Family and domain databases

Conserved Domains Database

More...CDDi		cd00063 FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR015373 Interferon/interleukin_rcp_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09294 Interfer-bind, 1 hit
PF01108 Tissue_fac, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49265 SSF49265, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853 FN3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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.Show allAlign 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i18C68BAF7D91B8AA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B5MCZ0B5MCZ0_HUMAN
Interferon gamma receptor 2 (Interf...
IFNGR2 hCG_401179
258Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLD7A0A0G2JLD7_HUMAN
Interferon gamma receptor 2
IFNGR2
332Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1V5H7C1V5_HUMAN
Interferon gamma receptor 2
IFNGR2
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLE8A0A0G2JLE8_HUMAN
Interferon gamma receptor 2
IFNGR2
330Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WF11F8WF11_HUMAN
Interferon gamma receptor 2
IFNGR2
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WE34F8WE34_HUMAN
Interferon gamma receptor 2
IFNGR2
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLE2A0A0G2JLE2_HUMAN
Interferon gamma receptor 2
IFNGR2
13Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLC6A0A0G2JLC6_HUMAN
Interferon gamma receptor 2
IFNGR2
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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 PublicationsCorresponds to variant dbSNP:rs1243506079Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1196094724Ensembl.1
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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33544.1

Protein sequence database of the Protein Information Resource

More...PIRi		I38500

NCBI Reference Sequences

More...RefSeqi		NP_005525.2, NM_005534.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000290219; ENSP00000290219; ENSG00000159128
ENST00000576463; ENSP00000458487; ENSG00000262795

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3460

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3460

UCSC genome browser

More...UCSCi		uc002yrp.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EH1X-ray1.80A28-247[»]
6E3KX-ray3.25E/I28-247[»]
6E3LX-ray3.80E/I28-247[»]
SMRiP38484
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109682, 7 interactors
IntActiP38484, 30 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

The DNASU plasmid repository

More...DNASUi		3460
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3460
DisGeNETi3460

GeneCards: human genes, protein and diseases

More...GeneCardsi		IFNGR2
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IVC9 Eukaryota
ENOG410YR1U LUCA
GeneTreeiENSGT00940000160503
HOGENOMiHOG000013157
InParanoidiP38484
KOiK05133
OrthoDBi965164at2759
PhylomeDBiP38484
TreeFamiTF337223

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		IFNGR2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3460

Protein Ontology

More...PROi		PR:P38484

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159128 Expressed in 233 organ(s), highest expression level in blood
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiINGR2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P38484
Secondary accession number(s): Q9BTL5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: March 6, 2007
Last modified: May 8, 2019
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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