Hs05333829_cn

• Gene Symbol: MEF2A
• Assay Reference Genome Location: Chr.15:99594942 on build GRCh38
• Cytoband: 15q26.3

Target Gene Details

• Entrez Gene ID: 4205
• Gene Name: myocyte enhancer factor 2A
• Gene Aliases: ADCAD1, RSRFC4, RSRFC9, mef2
• Location: Chr.15:99565455-99716488 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MEF2A	NM_001130926.2			NP_001124398.1
	NM_001130927.2			NP_001124399.1
	NM_001171894.2			NP_001165365.1
	NM_001319206.1			NP_001306135.1
	NM_005587.3			NP_005578.2
	XM_005254914.2			XP_005254971.1
	XM_005254915.2			XP_005254972.1
	XM_005254916.3			XP_005254973.1
	XM_011521571.2			XP_011519873.1
	XM_011521572.2			XP_011519874.1
	XM_011521573.2			XP_011519875.1
	XM_011521576.2			XP_011519878.1
	XM_011521579.2			XP_011519881.1
	XM_011521581.2			XP_011519883.1
	XM_011521582.2			XP_011519884.1
	XM_011521583.2			XP_011519885.1
	XM_011521585.2			XP_011519887.1
	XM_011521586.2			XP_011519888.1
	XM_011521587.2			XP_011519889.1
	XM_011521590.2			XP_011519892.1
	XM_017022190.1			XP_016877679.1
	XM_017022192.1			XP_016877681.1
	XM_017022193.1			XP_016877682.1
	XM_017022194.1			XP_016877683.1
	XM_017022195.1			XP_016877684.1
	XM_017022196.1			XP_016877685.1
	XM_017022197.1			XP_016877686.1
	XM_017022198.1			XP_016877687.1
	XM_017022200.1			XP_016877689.1
	XM_017022201.1			XP_016877690.1
	XM_017022202.1			XP_016877691.1
	XM_017022203.1			XP_016877692.1
	XM_017022204.1			XP_016877693.1
	AB208985.1			BAD92222.1
	AK291835.1
	AK294207.1
	AL831995.1
	BC013437.2			AAH13437.1
	DA778137.1
	X68504.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3892741	Chr.15:98979139 - 99618239 on Build GRCh38	Gain	LUNAR1 TTC23 LRRC28 MEF2A PGPEP1L SYNM HSP90B2P

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

MADS box transcription factor

Gene Ontology Categories:

Process(es)

mitochondrial genome maintenance
negative regulation of transcription from RNA polymerase II promoter
MAPK cascade
transcription, DNA-templated
transcription from RNA polymerase II promoter
apoptotic process
heart development
muscle organ development
positive regulation of cardiac muscle hypertrophy
positive regulation of transcription from RNA polymerase II promoter
mitochondrion distribution
dendrite morphogenesis
positive regulation of muscle cell differentiation
ventricular cardiac myofibril assembly
cardiac conduction
ERK5 cascade
cellular response to calcium ion

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription factor binding
RNA polymerase II transcription coactivator activity
chromatin binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
protein kinase binding
activating transcription factor binding
histone acetyltransferase binding
histone deacetylase binding
sequence-specific DNA binding
SMAD binding
protein heterodimerization activity