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

Gene: PBX2

Alternate names for this Gene: G17|HOX12|PBX2MHC

Gene Summary: This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: PBX homeobox 2

Type of Gene: protein-coding

rs1800625 in AGER;PBX2 gene and Alanine aminotransferase measurement PMID 26546620 2016 HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.

rs140865314 in AGER;PBX2 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs1800625 in AGER;PBX2 gene and Drug-induced neutropenia PMID 26876947 2016 Pharmacogenomic Study of Clozapine-Induced AgranulocytosisGranulocytopenia in a Japanese Population.

rs1800625 in AGER;PBX2 gene and Malignant Neoplasms PMID 26546620 2016 HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.

rs1800625 in AGER;PBX2 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs140865314 in AGER;PBX2 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs1800625 in AGER;PBX2 gene and Serum Alanine Aminotransferase Measurement PMID 26546620 2016 HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.