Gene: ABCB9

Alternate names for this Gene: EST122234|TAPL

Gene Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: ATP binding cassette subfamily B member 9

Type of Gene: protein-coding

rs4275659 in ABCB9 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

rs4275659 in ABCB9 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs4148856 in ABCB9 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs61955196 in ABCB9 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.