MEF2C myocyte enhancer factor 2C
Gene ID: 4208, updated on 10-Oct-2024Gene type: protein coding
Also known as: NEDHSIL; DEL5q14.3; C5DELq14.3
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- Go to complete Gene record for MEF2C
- Go to Variation Viewer for MEF2C variants
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. [provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. GeneReviews: Not available | |
| Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. GeneReviews: Not available | |
| Genetic loci for retinal arteriolar microcirculation. GeneReviews: Not available | |
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Intellectual disability, autosomal dominant 20 | See labs |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. GeneReviews: Not available | |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 5q14.3
- Sequence:
- Chromosome: 5; NC_000005.10 (88717117..88904105, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MEF2C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MEF2C database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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