Gene: APOA5

Alternate names for this Gene: APOAV|RAP3

Gene Summary: The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: apolipoprotein A5

Type of Gene: protein-coding

Gene: ZPR1

Alternate names for this Gene: ZNF259

Gene Summary: The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: ZPR1 zinc finger

Type of Gene: protein-coding

rs2266788 in APOA5;ZPR1 gene and Blood Pressure PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs2075291 in APOA5;ZPR1 gene and Coronary Artery Disease PMID 29263402 2017 We identified a missense SNP (rs2075291, G > T, G185C) in APOA5 for CAD that reached robust genome-wide significance (Meta P = 7.09 × 10<sup>-10</sup>, OR = 1.636).

rs2075291 in APOA5;ZPR1 gene and High density lipoprotein measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs2266788 in APOA5;ZPR1 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2075291 in APOA5;ZPR1 gene and Metabolic Syndrome X PMID 31170924 2019 Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs2266788 in APOA5;ZPR1 gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs2266788 in APOA5;ZPR1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2266788 in APOA5;ZPR1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs2266788 in APOA5;ZPR1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2075291 in APOA5;ZPR1 gene and Triglycerides measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.