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Interferon gamma receptor 2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
IFNGR2
Identifiers
AliasesIFNGR2, AF-1, IFGR2, IFNGT1, IMD28, interferon gamma receptor 2 (interferon gamma transducer 1), interferon gamma receptor 2
External IDsOMIM:147569;MGI:107654;HomoloGene:4041;GeneCards:IFNGR2;OMA:IFNGR2 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for IFNGR2
Genomic location for IFNGR2
Band21q22.11Start33,403,413bp[1]
End33,479,348bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for IFNGR2
Genomic location for IFNGR2
Band16 C3.3|16 53.07 cMStart91,343,960bp[2]
End91,362,511bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • monocyte

  • blood

  • granulocyte

  • placenta

  • tibial nerve

  • appendix

  • rectum

  • gallbladder

  • spleen

  • subcutaneous adipose tissue
Top expressed in
  • interventricular septum

  • granulocyte

  • duodenum

  • cardiac muscles

  • myocardium of ventricle

  • right ventricle

  • temporal muscle

  • knee joint

  • muscle of thigh

  • triceps brachii muscle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3460

15980

Ensembl

ENSG00000159128
ENSG00000262795

ENSMUSG00000022965

UniProt

P38484

n/a

RefSeq (mRNA)

NM_005534
NM_001329128

NM_008338

RefSeq (protein)

NP_001316057
NP_005525

n/a

Location (UCSC)Chr 21: 33.4 – 33.48 MbChr 16: 91.34 – 91.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interferon gamma receptor 2 also known as IFN-γR2 is aprotein which in humans is encoded by theIFNGR2gene.[5]

Function

[edit]

This gene (IFNGR2) encodes the non-ligand-binding beta chain of thegamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains (encoded byIFNGR1) and two IFN-γR2 chains.[6]

Clinical significance

[edit]

Defects inIFNGR2 are a cause ofautosomal recessivemendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection.[7]All known mutations inIFNGR2 are collected in theIFNGR2 mutation database.[8]

References

[edit]
  1. ^abcENSG00000262795 GRCh38: Ensembl release 89: ENSG00000159128, ENSG00000262795Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000022965Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Luster AD, Weinshank RL, Feinman R, Ravetch JV (August 1988)."Molecular and biochemical characterization of a novel gamma-interferon-inducible protein".J. Biol. Chem.263 (24):12036–43.doi:10.1016/S0021-9258(18)37889-X.PMID 3136170.[permanent dead link]
  6. ^"Entrez Gene: IFNGR2".
  7. ^Al-Muhsen S, Casanova JL (December 2008)."The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases".J. Allergy Clin. Immunol.122 (6):1043–51, quiz 1052–3.doi:10.1016/j.jaci.2008.10.037.PMID 19084105.
  8. ^"All genes - Global Variome shared LOVD".

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.


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