MEF2C - myocyte enhancer factor 2C Gene

Also Known as NEDHSIL; DEL5q14.3; C5DELq14.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4208

About MEF2C

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:88,717,117-88,904,105 (from NCBI)

This gene has 56 transcripts (splice variants), 271 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 55.2), lymph node (RPKM 17.7) and 19 other tissues.

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]

MEF2C Products (36)

mRNA	Protein	Name
NM_001131005.2	NP_001124477.1	myocyte-specific enhancer factor 2C isoform 2
NM_001193347.1	NP_001180276.1	myocyte-specific enhancer factor 2C isoform 3
NM_001193348.1	NP_001180277.1	myocyte-specific enhancer factor 2C isoform 4
NM_001193349.3	NP_001180278.1	myocyte-specific enhancer factor 2C isoform 5
NM_001193350.2	NP_001180279.1	myocyte-specific enhancer factor 2C isoform 1
NM_001308002.3	NP_001294931.1	myocyte-specific enhancer factor 2C isoform 6
NM_001363581.2	NP_001350510.1	myocyte-specific enhancer factor 2C isoform 7
NM_001364329.2	NP_001351258.1	myocyte-specific enhancer factor 2C isoform 1
NM_001364330.2	NP_001351259.1	myocyte-specific enhancer factor 2C isoform 1
NM_001364331.2	NP_001351260.1	myocyte-specific enhancer factor 2C isoform 1
NM_001364332.2	NP_001351261.1	myocyte-specific enhancer factor 2C isoform 5
NM_001364333.2	NP_001351262.1	myocyte-specific enhancer factor 2C isoform 6
NM_001364334.2	NP_001351263.1	myocyte-specific enhancer factor 2C isoform 7
NM_001364335.2	NP_001351264.1	myocyte-specific enhancer factor 2C isoform 7
NM_001364336.2	NP_001351265.1	myocyte-specific enhancer factor 2C isoform 7
NM_001364337.2	NP_001351266.1	myocyte-specific enhancer factor 2C isoform 7
NM_001364338.2	NP_001351267.1	myocyte-specific enhancer factor 2C isoform 8
NM_001364339.2	NP_001351268.1	myocyte-specific enhancer factor 2C isoform 9
NM_001364340.2	NP_001351269.1	myocyte-specific enhancer factor 2C isoform 9
NM_001364341.2	NP_001351270.1	myocyte-specific enhancer factor 2C isoform 9
NM_001364342.2	NP_001351271.1	myocyte-specific enhancer factor 2C isoform 9
NM_001364343.2	NP_001351272.1	myocyte-specific enhancer factor 2C isoform 10
NM_001364344.2	NP_001351273.1	myocyte-specific enhancer factor 2C isoform 11
NM_001364345.2	NP_001351274.1	myocyte-specific enhancer factor 2C isoform 12
NM_001364346.2	NP_001351275.1	myocyte-specific enhancer factor 2C isoform 12
NM_001364347.2	NP_001351276.1	myocyte-specific enhancer factor 2C isoform 12
NM_001364348.2	NP_001351277.1	myocyte-specific enhancer factor 2C isoform 13
NM_001364349.2	NP_001351278.1	myocyte-specific enhancer factor 2C isoform 13
NM_001364350.2	NP_001351279.1	myocyte-specific enhancer factor 2C isoform 13
NM_001364352.2	NP_001351281.1	myocyte-specific enhancer factor 2C isoform 14
NM_001364353.2	NP_001351282.1	myocyte-specific enhancer factor 2C isoform 15
NM_001364354.2	NP_001351283.1	myocyte-specific enhancer factor 2C isoform 16
NM_001364355.2	NP_001351284.1	myocyte-specific enhancer factor 2C isoform 16
NM_001364356.2	NP_001351285.1	myocyte-specific enhancer factor 2C isoform 17
NM_001364357.2	NP_001351286.1	myocyte-specific enhancer factor 2C isoform 18
NM_002397.5	NP_002388.2	myocyte-specific enhancer factor 2C isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	11744164	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15486975	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	16043483	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	8455629	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	11160896	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	8455629	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16043483	GOA
enables minor groove of adenine-thymine-rich DNA binding	IDA IDA: Inferred from direct assay	15486975	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15486975	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	9858528	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in MAPK cascade	IDA IDA: Inferred from direct assay	9858528	GOA
involved in MAPK cascade	IMP IMP: Inferred from mutant phenotype	11160896	GOA
involved in cellular response to parathyroid hormone stimulus	IDA IDA: Inferred from direct assay	17696759	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	9770491	GOA
involved in heart development	IEP IEP: Inferred from expression pattern	10458488	GOA
involved in myotube differentiation	IEP IEP: Inferred from expression pattern	8455629	GOA
involved in negative regulation of blood vessel endothelial cell migration	IGI IGI: Inferred from genetic interaction	26184978	GOA
involved in negative regulation of ossification	IDA IDA: Inferred from direct assay	17696759	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18079734	GOA
involved in negative regulation of vascular associated smooth muscle cell migration	IDA IDA: Inferred from direct assay	28799067	GOA
involved in negative regulation of vascular associated smooth muscle cell migration	IGI IGI: Inferred from genetic interaction	26184978	GOA
involved in negative regulation of vascular associated smooth muscle cell proliferation	IDA IDA: Inferred from direct assay	28799067	GOA
involved in negative regulation of vascular associated smooth muscle cell proliferation	IGI IGI: Inferred from genetic interaction	26184978	GOA
involved in negative regulation of vascular endothelial cell proliferation	IGI IGI: Inferred from genetic interaction	26184978	GOA
involved in neuron differentiation	IEP IEP: Inferred from expression pattern	8455629	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11744164	GOA
involved in positive regulation of cardiac muscle cell differentiation	IDA IDA: Inferred from direct assay	9857019	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	9857019	GOA
involved in positive regulation of myoblast differentiation	IMP IMP: Inferred from mutant phenotype	9770491	GOA
involved in positive regulation of skeletal muscle cell differentiation	IDA IDA: Inferred from direct assay	21556048	GOA
involved in positive regulation of skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	9770491	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	8455629	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11160896	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24008018	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	8455629	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	18079734	GOA
located in nucleus	IDA IDA: Inferred from direct assay	8455629	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	15486975	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEF2C Protein Structure

SRF-TF

HJURP_C

0
100
200
300
400
473 a.a.

Protein Preferred Names	Protein Names
myocyte-specific enhancer factor 2C	MADS box transcription enhancer factor 2, polypeptide C

MEF2C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MEF2C	Q06413	CACNA1C	Homo sapiens	Q13936	Anti Bait CoIP	37207277
Intra	MEF2C	Q06413	MYLK2	Homo sapiens	Q9H1R3	Pull Down	21556048
Intra	MEF2C	Q06413	HDAC5	Homo sapiens	Q9UQL6	Y2H Array	20211142
Intra	MEF2C	Q06413	HDAC9	Homo sapiens	Q9UKV0	Y2H Pooling	20936779
Intra	MEF2C	Q06413	HDAC9	Homo sapiens	Q9UKV0	Y2H Array	20211142

Cross: Cross-species interaction Intra: Intraspecies interaction

MEF2C Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81693	MEF2C Antibody (YA1438)	WB, IHC-P	Human, Rat
HY-P84495	MEF2C Antibody (YA4192)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit, Monkey
HY-P84495A	MEF2C Antibody (YA4192)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Rabbit, Monkey

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Chromosome 5q14.3 Deletion Syndrome 5q14.3 Microdeletion Syndrome Mental Retardation, Autosomal Dominant 20 NEDHSIL Autosomal Dominant Mental Retardation 20 Mrd20 Del(5)(Q14.3) Monosomy 5q14.3 Intellectual Disability, Autosomal Dominant 20 Mental Retardation, Autosomal Dominant 20, Formerly Mrd20, Formerly Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations 5q14.3 Deletion Syndrome Autosomal Dominant Intellectual Disability 20 Mental Retardation, Autosomal Dominant, Type 20
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Developmental And Epileptic Encephalopathy 30	DEE30 Epileptic Encephalopathy, Early Infantile, 30 Eiee30 Developmental And Epileptic Encephalopathy, 30 Early Infantile Epileptic Encephalopathy 30 Encephalopathy, Epileptic, Early Infantile, Type 30
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Myoclonic Epilepsy, Juvenile 4	EJM4 Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 Myoclonic Epilepsy, Juvenile, 4 Juvenile Myoclonic Epilepsy 4
Hypotonia
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Cerebral Cavernous Malformations	Cerebral Cavernous Malformation Cavernous Malformations Of Cns And Retina Cerebral Cavernous Malformation 1 Cavernous Angiomatous Malformations Cerebral Capillary Malformations CCM Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations Familial Cavernous Angioma Cavernous Angioma Familial Cerebral Cavernous Malformation Cerebral Cavernous Malformations 1 Cavernous Angioma, Familial Cam Cerebral Cavernous Malformations-1 Cavernoma Central Nervous System Cavernous Hemangioma Cerebral Cavernous Hemangioma Familial Cavernous Hemangioma Familial Cavernous Malformation Familial Cerebral Cavernous Angioma Intracerebral Cavernous Hemangioma CCM1 Cavernous Hemangioma Of The Brain Cerebral Cavernoma Cerebral Cavernous Malformations, Type 1 Hemangioma, Cavernous, Central Nervous System Hemangioma, Cavernous Angioma, Cavernous
Brachydactyly, Type E1	Brachydactyly Type E1 Brachydactyly Type E BDE1 Brachydactyly, Type E Bde Type E Brachydactyly Brachydactyly E1 Brachydactyly Syndrome Type E
Tricuspid Atresia	Congenital Agenesis Of The Tricuspid Valve
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120877	MRT199665		99.85%	Unkown
HY-164288	TDI-6570	Inhibitor	99.64%	Unkown
HY-120877A	(R)-MRT199665		98.70%	Unkown
HY-122610	VUT-MK142	Activator	99.57%	Unkown
HY-RS08311	MEF2C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-170237	SIK2/3-IN-1	Inhibitor	/	Unkown
HY-174479	Mouse Mef2c mRNA		/	Unkown
HY-174583	Human MEF2C mRNA		/	Unkown
HY-RS19021	Mef2c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25510	Mef2c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MEF2C	MGD	MGI:99458
Rattus norvegicus	MEF2C	RGD	RGD:1563119
Macaca mulatta	MEF2C	VGNC	VGNC:84438
Canis familiaris	MEF2C	VGNC	VGNC:43144
Felis catus	MEF2C	VGNC	VGNC:102254
Bos taurus	MEF2C	VGNC	VGNC:31373
Others	MEF2C	NCBI