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P38484 (INGR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:IFNGR2
Synonyms:IFNGT1
OrganismHomo sapiens (Human) [Reference proteome]
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

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. Ref.5

Sequence similarities

Belongs to the type II cytokine receptor family.

Contains 2 fibronectin type-III domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Chain28 – 337310Interferon gamma receptor 2
PRO_0000011011

Regions

Topological domain28 – 247220Extracellular Potential
Transmembrane248 – 26821Helical; Potential
Topological domain269 – 33769Cytoplasmic Potential
Domain31 – 12999Fibronectin type-III 1
Domain142 – 24099Fibronectin type-III 2

Amino acid modifications

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. Ref.2
Corresponds to variant rs4986958 [ dbSNP | Ensembl ].
VAR_020003
Natural variant641Q → R. Ref.1 Ref.3
Corresponds to variant rs9808753 [ dbSNP | Ensembl ].
VAR_002718
Natural variant1471E → K. Ref.2
Corresponds to variant rs17878639 [ dbSNP | Ensembl ].
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. Ref.5
VAR_023281
Natural variant1821K → E. Ref.2
Corresponds to variant rs17878711 [ dbSNP | Ensembl ].
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. Ref.5

Sequences

Sequence LengthMass (Da)Tools
P38484 [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] [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]"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] [Europe PMC] [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

IFNGR2base

IFNGR2 mutation db

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS33544.1.
PIRI38500.
RefSeqNP_005525.2. NM_005534.3.
UniGeneHs.634632.

3D structure databases

ProteinModelPortalP38484.
SMRP38484. Positions 30-240.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109682. 6 interactions.
IntActP38484. 2 interactions.
MINTMINT-1508054.
STRING9606.ENSP00000290219.

Chemistry

ChEMBLCHEMBL2364171.
DrugBankDB00033. Interferon gamma-1b.

Polymorphism databases

DMDM145559548.

Proteomic databases

PaxDbP38484.
PRIDEP38484.

Protocols and materials databases

DNASU3460.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290219; ENSP00000290219; ENSG00000159128.
ENST00000576463; ENSP00000458487; ENSG00000262795.
GeneID3460.
KEGGhsa:3460.
UCSCuc002yrp.4. human.

Organism-specific databases

CTD3460.
GeneCardsGC21P034757.
HGNCHGNC:5440. IFNGR2.
HPAHPA001535.
MIM147569. gene.
209950. phenotype.
neXtProtNX_P38484.
Orphanet319589. 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.
PharmGKBPA29676.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42506.
HOGENOMHOG000013157.
HOVERGENHBG052129.
KOK05133.
PhylomeDBP38484.
TreeFamTF337223.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.
SignaLinkP38484.

Gene expression databases

ArrayExpressP38484.
BgeeP38484.
CleanExHS_IFNGR2.
GenevestigatorP38484.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015373. Interferon_alpha/beta_rcpt_bsu.
[Graphical view]
PfamPF09294. Interfer-bind. 1 hit.
PF01108. Tissue_fac. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIFNGR2. human.
GenomeRNAi3460.
NextBio13632.
PROP38484.
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: July 9, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

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