Gene: ABCC4

Alternate names for this Gene: MOAT-B|MOATB|MRP4

Gene Summary: The 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 MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.1

Description of this Gene: ATP binding cassette subfamily C member 4

Type of Gene: protein-coding

rs9590225 in ABCC4 gene and Childhood asthma PMID 23829686 2013 Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.

rs9556465 in ABCC4 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4148546 in ABCC4 gene and Longevity PMID 20834067 2010 Joint influence of small-effect genetic variants on human longevity.

rs9590177 in ABCC4 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16950650 in ABCC4 gene and Non-Small Cell Lung Carcinoma PMID 23478653 2014 A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.

rs4148435 in ABCC4 gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs9556465 in ABCC4 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs9590177 in ABCC4 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16950650 in ABCC4 gene and response to irinotecan PMID 23478653 2014 A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.