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

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

rs146827975 in PBX2;AGER 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.

rs169504 in PBX2;AGER gene and Physical Activity Measurement PMID 29899525 2018 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.

rs146827975 in PBX2;AGER 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.