Gene: IFNGR2

Alternate names for this Gene: AF-1|IFGR2|IFNGT1|IMD28

Gene Summary: This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.11

Description of this Gene: interferon gamma receptor 2

Type of Gene: protein-coding

rs2284553 in IFNGR2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2284553 in IFNGR2 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs2284553 in IFNGR2 gene and Crohn Disease PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 22936669 2013 A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.

rs74315444 in IFNGR2 gene and IMMUNODEFICIENCY 28 PMID 23963039 2013 Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

PMID 10608793 2000 Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.

PMID 22902943 2012 Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.

PMID 15924140 2005 Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

rs2284553 in IFNGR2 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs9808753 in IFNGR2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs2284553 in IFNGR2 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs2284553 in IFNGR2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.