Gene: EXOC3L2

Alternate names for this Gene: XTP7

Gene Summary: The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: exocyst complex component 3 like 2

Type of Gene: protein-coding

Gene: MARK4

Alternate names for this Gene: MARK4L|MARK4S|MARKL1|MARKL1L|PAR-1D

Gene Summary: This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: microtubule affinity regulating kinase 4

Type of Gene: protein-coding

rs73036519 in EXOC3L2;MARK4 gene and Age related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs346757 in EXOC3L2;MARK4 gene and Alzheimer's Disease PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 24755620 2014 Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.

rs75727214 in EXOC3L2;MARK4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs11669910 in EXOC3L2;MARK4 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11673093 in EXOC3L2;MARK4 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs11669910 in EXOC3L2;MARK4 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73036519 in EXOC3L2;MARK4 gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs73036519 in EXOC3L2;MARK4 gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs17356664 in EXOC3L2;MARK4 gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs11673000 in EXOC3L2;MARK4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11673000 in EXOC3L2;MARK4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73036519 in EXOC3L2;MARK4 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11673093 in EXOC3L2;MARK4 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73036519 in EXOC3L2;MARK4 gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.