Gene: MEF2C

Alternate names for this Gene: C5DELq14.3|DEL5q14.3

Gene Summary: This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: myocyte enhancer factor 2C

Type of Gene: protein-coding

Gene: MEF2C-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: MEF2C antisense RNA 1

Type of Gene: ncRNA

rs12522630 in MEF2C;MEF2C-AS1 gene and Bone Mineral Density Test PMID 23572186 2013 Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.

rs2067663 in MEF2C;MEF2C-AS1 gene and Finding of Mean Corpuscular Hemoglobin 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.

rs2067663 in MEF2C;MEF2C-AS1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs114694170 in MEF2C;MEF2C-AS1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs114694170 in MEF2C;MEF2C-AS1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs114694170 in MEF2C;MEF2C-AS1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2067663 in MEF2C;MEF2C-AS1 gene and Red Blood Cell Count measurement 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.

rs114694170 in MEF2C;MEF2C-AS1 gene and Vascular Endothelial Growth Factor Measurement PMID 26910538 2016 Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.