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P38484

- INGR2_HUMAN

UniProt

P38484 - INGR2_HUMAN

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Protein
Interferon gamma receptor 2
Gene
IFNGR2, IFNGT1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
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: Chromosome 21

Organism-specific databases

HGNCiHGNC:5440. IFNGR2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 247220Extracellular Reviewed prediction
Add
BLAST
Transmembranei248 – 26821Helical; Reviewed prediction
Add
BLAST
Topological domaini269 – 33769Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2727 Reviewed prediction
Add
BLAST
Chaini28 – 337310Interferon gamma receptor 2
PRO_0000011011Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

« 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 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: September 3, 2014
This is version 140 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

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