Gene: BORCS8-MEF2B

Alternate names for this Gene: LOC729991-MEF2B|MEF2B|MEF2BNB-MEF2B|RSRFR2

Gene Summary: This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: BORCS8-MEF2B readthrough

Type of Gene: protein-coding

Gene: MEF2B

Alternate names for this Gene: RSRFR2

Gene Summary: The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: myocyte enhancer factor 2B

Type of Gene: protein-coding

rs58190593 in BORCS8-MEF2B;MEF2B gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs7360000 in BORCS8-MEF2B;MEF2B gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs58190593 in BORCS8-MEF2B;MEF2B gene and Mean blood pressure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs7360000 in BORCS8-MEF2B;MEF2B gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7360000 in BORCS8-MEF2B;MEF2B gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.