Gene: MEF2D

Alternate names for this Gene: -

Gene Summary: This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: myocyte enhancer factor 2D

Type of Gene: protein-coding

rs10908505 in MEF2D gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2274319 in MEF2D gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1050316 in MEF2D gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs1050316 in MEF2D gene and Migraine Disorders PMID 22683712 2012 Genome-wide association analysis identifies susceptibility loci for migraine without aura.

PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs1050316 in MEF2D gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1171563 in MEF2D gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs10908505 in MEF2D gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).