Gene: AGER

Alternate names for this Gene: RAGE|SCARJ1

Gene Summary: The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847).

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: advanced glycosylation end-product specific receptor

Type of Gene: protein-coding

rs2070600 in AGER gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2070600 in AGER gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

PMID 28166215 2017 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

rs3134940 in AGER gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs2070600 in AGER gene and Forced expiratory volume function PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs2070600 in AGER gene and Pulmonary function PMID 20010834 2010 Genome-wide association study identifies five loci associated with lung function.

PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs2070600 in AGER gene and Pulmonary function (finding) PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

PMID 20010834 2010 Genome-wide association study identifies five loci associated with lung function.

rs2070600 in AGER gene and Respiratory Function Tests PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

PMID 20010834 2010 Genome-wide association study identifies five loci associated with lung function.

rs2070600 in AGER gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs1035798 in AGER gene and Systemic Scleroderma PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

rs2070600 in AGER gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs2070600 in AGER gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.