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Reviewed, UniProtKB/Swiss-Prot P38484 (INGR2_HUMAN)

Last modified November 25, 2008. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Interferon-gamma receptor beta chain
Alternative name(s):
    Interferon-gamma receptor accessory factor 1
      Short name=AF-1
    Interferon-gamma transducer 1
Gene names
Name: IFNGR2
Synonyms: IFNGT1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length337 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Single-pass type I membrane protein.

Involvement in disease

Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. 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.

Sequence similarities

Belongs to the type II cytokine receptor family.

Contains 2 fibronectin type-III domains.

Ontologies

Keywords

   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainRepeat
Signal
Transmembrane
   Molecular functionReceptor
   PTMGlycoprotein
Phosphoprotein

Gene Ontology (GO)

   Biological processcell surface receptor linked signal transduction

Traceable author statement. Source: ProtInc

response to virus Ref.1

Traceable author statement. Source: ProtInc

   Cellular componentendoplasmic reticulum

Inferred from direct assay. Source: UniProtKB

integral to plasma membrane Ref.4

Traceable author statement. Source: ProtInc

   Molecular functioninterferon-gamma receptor activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Chain28 – 337310Interferon-gamma receptor beta chain
PRO_0000011011

Regions

Topological domain28 – 247220Extracellular Potential
Transmembrane248 – 26821 Potential
Topological domain269 – 33769Cytoplasmic Potential
Domain31 – 12999Fibronectin type-III 1
Domain139 – 22991Fibronectin type-III 2

Amino acid modifications

Modified residue1981Phosphoserine
Glycosylation561N-linked (GlcNAc...) Potential
Glycosylation851N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation1371N-linked (GlcNAc...) Potential
Glycosylation2191N-linked (GlcNAc...) Potential
Glycosylation2311N-linked (GlcNAc...) Potential

Natural variations

Natural variant581T → R: dbSNP rs4986958.
VAR_020003
Natural variant641Q → R: dbSNP rs9808753.
VAR_002718
Natural variant1471E → K: dbSNP rs17878639.
VAR_021383
Natural variant1681T → N in MSMD; does not affect receptor trafficking to the cell surface; loss of function due to gain of N-glycosylation.
VAR_023281
Natural variant1821K → E: dbSNP rs17878711.
VAR_021384
Natural variant222 – 2309Missing in MSMD; affects receptor trafficking to the cell surface.
VAR_023282

Experimental info

Mutagenesis1681T → A or Q: Does not affect function

Sequences

Sequence LengthMass (Da)Tools
P38484-1 [UniParc].

Last modified March 6, 2007. Version 2.
Checksum: 18C68BAF7D91B8AA

FASTA33737,806
        10         20         30         40         50         60 
MRPTLLWSLL LLLGVFAAAA AAPPDPLSQL PAPQHPKIRL YNAEQVLSWE PVALSNSTRP 

        70         80         90        100        110        120 
VVYQVQFKYT DSKWFTADIM SIGVNCTQIT ATECDFTAAS PSAGFPMDFN VTLRLRAELG 

       130        140        150        160        170        180 
ALHSAWVTMP WFQHYRNVTV GPPENIEVTP GEGSLIIRFS SPFDIADTST AFFCYYVHYW 

       190        200        210        220        230        240 
EKGGIQQVKG PFRSNSISLD NLKPSRVYCL QVQAQLLWNK SNIFRVGHLS NISCYETMAD 

       250        260        270        280        290        300 
ASTELQQVIL ISVGTFSLLS VLAGACFFLV LKYRGLIKYW FHTPPSIPLQ IEEYLKDPTQ 

       310        320        330 
PILEALDKDS SPKDDVWDSV SIISFPEKEQ EDVLQTL 

« Hide

References

« Hide 'large scale' references
[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: 8124716] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-64.
Tissue: Lung fibroblast.
[2]SeattleSNPs program for genomic applications
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: 15489334] [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: 8910544] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-24.
[5]"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-198, MASS SPECTROMETRY.
Tissue: Epithelium.
[6]"Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations."
Vogt G., Chapgier A., Yang K., Chuzhanova N., Feinberg J., Fieschi C., Boisson-Dupuis S., Alcais A., Filipe-Santos O., Bustamante J., de Beaucoudrey L., Al-Mohsen I., Al-Hajjar S., Al-Ghonaium A., Adimi P., Mirsaeidi M., Khalilzadeh S., Rosenzweig S. expand/collapse author list , de la Calle-Martin O., Bauer T.R., Puck J.M., Ochs H.D., Furthner D., Engelhorn C., Belohradsky B., Mansouri D., Holland S.M., Schreiber R.D., Abel L., Cooper D.N., Soudais C., Casanova J.-L.
Nat. Genet. 37:692-700(2005) [PubMed: 15924140] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

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.
PIRI38500.
RefSeqNP_005525.2.
UniGeneHs.634632

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteP38484.

Genome annotation databases

EnsemblENSG00000159128. Homo sapiens. [Contig view]
GeneID3460.
KEGGhsa:3460.

Organism-specific databases

H-InvDBHIX0016076.
HGNCHGNC:5440. IFNGR2.
HPAHPA001535.
MIM147569. gene.
209950. phenotype.
Orphanet748. Mendelian susceptibility to atypical mycobacteria.
PharmGKBPA29676.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENP38484.

Gene expression databases

ArrayExpressP38484.
CleanExHS_IFNGR2.
GermOnlineENSG00000159128. Homo sapiens.

Family and domain databases

InterProIPR008957. Fibronectin_typ-III-like_fold.
IPR003961. FN_III.
[Graphical view]
Gene3DG3DSA:2.60.40.30. FN_III-like. 1 hit.
PfamPF00041. fn3. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
[Graphical view]
PROSITEPS50853. FN3. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00033. Interferon gamma-1b.
NextBio13632.
SOURCESearch...

Entry information

Entry nameINGR2_HUMAN
AccessionPrimary (citable) accession number: P38484
Secondary accession number(s): Q9BTL5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: March 6, 2007
Last modified: November 25, 2008
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents