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

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

rs3850651 in MEF2C-AS1;MEF2C gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs17560407 in MEF2C-AS1;MEF2C gene and Triglycerides measurement PMID 23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.

rs10066711 in MEF2C-AS1;MEF2C gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.