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P38484

- INGR2_HUMAN

UniProt

P38484 - INGR2_HUMAN

Protein

Interferon gamma receptor 2

Gene

IFNGR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (06 Mar 2007)
      Previous versions | rss
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    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

    1. interferon-gamma receptor activity Source: ProtInc

    GO - Biological processi

    1. cell surface receptor signaling pathway Source: ProtInc
    2. cytokine-mediated signaling pathway Source: Reactome
    3. interferon-gamma-mediated signaling pathway Source: Reactome
    4. regulation of interferon-gamma-mediated signaling pathway Source: Reactome
    5. response to virus Source: ProtInc

    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: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:5440. IFNGR2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and 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. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. 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. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti168 – 1681T → N in MSMD; 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 MSMD; affects receptor trafficking to the cell surface.
    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

    MIMi209950. 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.

    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

    ArrayExpressiP38484.
    BgeeiP38484.
    CleanExiHS_IFNGR2.
    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...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei248 – 26821HelicalSequence AnalysisAdd
    BLAST

    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.
    HOGENOMiHOG000013157.
    HOVERGENiHBG052129.
    KOiK05133.
    PhylomeDBiP38484.
    TreeFamiTF337223.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR003961. Fibronectin_type3.
    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

    MRPTLLWSLL LLLGVFAAAA AAPPDPLSQL PAPQHPKIRL YNAEQVLSWE    50
    PVALSNSTRP VVYQVQFKYT DSKWFTADIM SIGVNCTQIT ATECDFTAAS 100
    PSAGFPMDFN VTLRLRAELG ALHSAWVTMP WFQHYRNVTV GPPENIEVTP 150
    GEGSLIIRFS SPFDIADTST AFFCYYVHYW EKGGIQQVKG PFRSNSISLD 200
    NLKPSRVYCL QVQAQLLWNK SNIFRVGHLS NISCYETMAD ASTELQQVIL 250
    ISVGTFSLLS VLAGACFFLV LKYRGLIKYW FHTPPSIPLQ IEEYLKDPTQ 300
    PILEALDKDS SPKDDVWDSV SIISFPEKEQ EDVLQTL 337
    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 MSMD; 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 MSMD; affects receptor trafficking to the cell surface.
    VAR_023282

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi145559548.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    IFNGR2base

    IFNGR2 mutation db

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGenei Hs.634632.

    3D structure databases

    ProteinModelPortali P38484.
    SMRi P38484. Positions 30-240.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109682. 6 interactions.
    IntActi P38484. 2 interactions.
    MINTi MINT-1508054.
    STRINGi 9606.ENSP00000290219.

    Chemistry

    ChEMBLi CHEMBL2364171.
    DrugBanki DB00033. Interferon gamma-1b.

    Polymorphism databases

    DMDMi 145559548.

    Proteomic databases

    PaxDbi P38484.
    PRIDEi P38484.

    Protocols and materials databases

    DNASUi 3460.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290219 ; ENSP00000290219 ; ENSG00000159128 .
    ENST00000576463 ; ENSP00000458487 ; ENSG00000262795 .
    GeneIDi 3460.
    KEGGi hsa:3460.
    UCSCi uc002yrp.4. human.

    Organism-specific databases

    CTDi 3460.
    GeneCardsi GC21P034757.
    HGNCi HGNC:5440. IFNGR2.
    HPAi HPA001535.
    MIMi 147569. gene.
    209950. phenotype.
    neXtProti NX_P38484.
    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 NOG42506.
    HOGENOMi HOG000013157.
    HOVERGENi HBG052129.
    KOi K05133.
    PhylomeDBi P38484.
    TreeFami TF337223.

    Enzyme and pathway databases

    Reactomei REACT_24980. Regulation of IFNG signaling.
    REACT_25078. Interferon gamma signaling.
    SignaLinki P38484.

    Miscellaneous databases

    ChiTaRSi IFNGR2. human.
    GenomeRNAii 3460.
    NextBioi 13632.
    PROi P38484.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P38484.
    Bgeei P38484.
    CleanExi HS_IFNGR2.
    Genevestigatori P38484.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR003961. Fibronectin_type3.
    IPR013783. Ig-like_fold.
    IPR015373. Interferon_alpha/beta_rcpt_bsu.
    [Graphical view ]
    Pfami PF09294. Interfer-bind. 1 hit.
    PF01108. Tissue_fac. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 2 hits.
    PROSITEi PS50853. FN3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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 MSMD ASN-168 AND 222-ASN--SER-230 DEL, MUTAGENESIS OF THR-168, CHARACTERIZATION OF VARIANTS MSMD 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: October 1, 2014
    This is version 141 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