Hs02589093_cn

• Gene Symbol: MEF2C
• Assay Reference Genome Location: Chr.5:88722509 on build GRCh38
• Cytoband: 5q14.3

Target Gene Details

• Entrez Gene ID: 4208
• Gene Name: myocyte enhancer factor 2C
• Gene Aliases: C5DELq14.3, DEL5q14.3
• Location: Chr.5:88718241-88904105 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MEF2C	NM_001131005.2	11	1916	NP_001124477.1
	NM_001193347.1	12	1976	NP_001180276.1
	NM_001193348.1	8	1488	NP_001180277.1
	NM_001193349.1	9	1416	NP_001180278.1
	NM_001193350.1	11	2168	NP_001180279.1
	NM_001308002.1	9	1632	NP_001294931.1
	NM_002397.4	11	2171	NP_002388.2
	XM_005248511.2	11	1705	XP_005248568.1
	XM_006714619.2	12	2027	XP_006714682.1
	XM_006714625.3	11	2034	XP_006714688.1
	XM_011543396.2	11	1756	XP_011541698.1
	XM_011543397.2	11	1937	XP_011541699.1
	XM_011543400.1	11	1847	XP_011541702.1
	XM_011543401.1	10	1823	XP_011541703.1
	XM_017009475.1	11	1998	XP_016864964.1
	XM_017009476.1	10	1980	XP_016864965.1
	XM_017009477.1	10	1919	XP_016864966.1
	XM_017009478.1	10	1974	XP_016864967.1
	XM_017009479.1	11	1908	XP_016864968.1
	XM_017009480.1	12	1931	XP_016864969.1
	XM_017009481.1	11	1609	XP_016864970.1
	XM_017009482.1	10	1884	XP_016864971.1
	XM_017009483.1	10	1878	XP_016864972.1
	AK307883.1	10	1512
	AL833268.1	12	1924
	AL833274.1	11	1865
	L08895.1	11	1918	AAA59578.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
MAPK cascade
blood vessel development
osteoblast differentiation
neuron migration
B cell homeostasis
heart looping
endochondral ossification
blood vessel remodeling
chondrocyte differentiation
germinal center formation
regulation of germinal center formation
primary heart field specification
secondary heart field specification
outflow tract morphogenesis
sinoatrial valve morphogenesis
cardiac ventricle formation
regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
apoptotic process
humoral immune response
nervous system development
heart development
muscle organ development
skeletal muscle tissue development
muscle cell fate determination
learning or memory
response to virus
positive regulation of gene expression
negative regulation of gene expression
positive regulation of alkaline phosphatase activity
neural crest cell differentiation
cardiac muscle hypertrophy in response to stress
myotube differentiation
neuron differentiation
platelet formation
monocyte differentiation
negative regulation of ossification
melanocyte differentiation
positive regulation of bone mineralization
positive regulation of B cell proliferation
cellular response to drug
skeletal muscle cell differentiation
cellular response to trichostatin A
B cell proliferation
regulation of neuron apoptotic process
negative regulation of neuron apoptotic process
regulation of megakaryocyte differentiation
positive regulation of myoblast differentiation
positive regulation of neuron differentiation
positive regulation of osteoblast differentiation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
regulation of neurotransmitter secretion
regulation of synaptic plasticity
positive regulation of skeletal muscle tissue development
neuron development
cell morphogenesis involved in neuron differentiation
embryonic viscerocranium morphogenesis
negative regulation of epithelial cell proliferation
B cell receptor signaling pathway
smooth muscle cell differentiation
positive regulation of muscle cell differentiation
regulation of synapse assembly
regulation of synaptic transmission, glutamatergic
ventricular cardiac muscle cell differentiation
palate development
regulation of synaptic activity
positive regulation of cardiac muscle cell proliferation
excitatory postsynaptic potential
regulation of sarcomere organization
cartilage morphogenesis
regulation of dendritic spine development
renal tubule morphogenesis
cellular response to lipopolysaccharide
cellular response to calcium ion
cellular response to parathyroid hormone stimulus
cellular response to fluid shear stress
cellular response to transforming growth factor beta stimulus
positive regulation of cell proliferation in bone marrow
glomerulus morphogenesis
nephron tubule epithelial cell differentiation
positive regulation of protein homodimerization activity
positive regulation of macrophage apoptotic process
regulation of N-methyl-D-aspartate selective glutamate receptor activity
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
positive regulation of cardiac muscle cell differentiation
positive regulation of behavioral fear response
epithelial cell proliferation involved in renal tubule morphogenesis
positive regulation of skeletal muscle cell differentiation

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 distal enhancer sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter sequence-specific
core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
AT DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
activating transcription factor binding
miRNA binding
histone deacetylase binding
transcription regulatory region DNA binding
protein heterodimerization activity
HMG box domain binding