AutismKB 2.0

Annotation Details for MEF2C


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Basic Information Top
Gene Symbol:MEF2C ( C5DELq14.3; DEL5q14.3 )
Gene Full Name: myocyte enhancer factor 2C
Band: 5q14.3
Quick LinksEntrez ID:4208; OMIM: 600662; Uniprot ID:MEF2C_HUMAN; ENSEMBL ID: ENSG00000081189; HGNC ID: 6996
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus8455629
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005737IDA-cytoplasm8455629
GO:0016607IDA-nuclear speck18079734
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0043234IDA-protein complex15486975
GO:0098794IEA-postsynapse-
GO ID Evidence Qualifier GO_term References
GO:0000977IDA-RNA polymerase II regulatory region sequence-specific DNA binding8455629
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0000980IEA-RNA polymerase II distal enhancer sequence-specific DNA binding-
GO:0000981ISS-RNA polymerase II transcription factor activity, sequence-specific DNA binding21610032
GO:0000983IDA-transcription factor activity, RNA polymerase II core promoter sequence-specific8455629
GO:0001046IEA-core promoter sequence-specific DNA binding-
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding15486975
GO:0001205IEA-transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding-
GO:0003680IDA-AT DNA binding15486975
GO:0003682IEA-chromatin binding-
GO:0003700IDA-transcription factor activity, sequence-specific DNA binding16043483
GO:0005515IPI-protein binding15486975
GO:0033613IPI-activating transcription factor binding11160896
GO:0035198IDA-miRNA binding21170291
GO:0042826IEA-histone deacetylase binding-
GO:0044212ISS-transcription regulatory region DNA binding-
GO:0046982IPI-protein heterodimerization activity9858528
GO:0071837IEA-HMG box domain binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IMP-negative regulation of transcription from RNA polymerase II promoter18079734
GO:0000165IDA-MAPK cascade9858528
GO:0000165IMP-MAPK cascade11160896
GO:0001568ISS-blood vessel development-
GO:0001649ISS-osteoblast differentiation-
GO:0001764ISS-neuron migration-
GO:0001782ISS-B cell homeostasis-
GO:0001947ISS-heart looping-
GO:0001958ISS-endochondral ossification-
GO:0001974ISS-blood vessel remodeling-
GO:0002062ISS-chondrocyte differentiation-
GO:0002467ISS-germinal center formation-
GO:0002634ISS-regulation of germinal center formation-
GO:0003138ISS-primary heart field specification-
GO:0003139ISS-secondary heart field specification-
GO:0003151ISS-outflow tract morphogenesis-
GO:0003185ISS-sinoatrial valve morphogenesis-
GO:0003211ISS-cardiac ventricle formation-
GO:0006355IDA-regulation of transcription, DNA-templated24008018
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006915IEA-apoptotic process-
GO:0006959ISS-humoral immune response-
GO:0007399TAS-nervous system development8455629
GO:0007507IEP-heart development10458488
GO:0007507ISS-heart development-
GO:0007507NAS-heart development15486975
GO:0007517TAS-muscle organ development8455629
GO:0007519ISS-skeletal muscle tissue development-
GO:0007521ISS-muscle cell fate determination-
GO:0007611ISS-learning or memory-
GO:0009615IEP-response to virus21170291
GO:0010628IDA-positive regulation of gene expression9857019
GO:0010629ISS-negative regulation of gene expression-
GO:0010694ISS-positive regulation of alkaline phosphatase activity-
GO:0014033ISS-neural crest cell differentiation21610032
GO:0014898IEA-cardiac muscle hypertrophy in response to stress-
GO:0014902IEP-myotube differentiation8455629
GO:0021542IEA-dentate gyrus development-
GO:0030182IEP-neuron differentiation8455629
GO:0030182ISS-neuron differentiation-
GO:0030220ISS-platelet formation-
GO:0030224IEA-monocyte differentiation-
GO:0030279IDA-negative regulation of ossification17696759
GO:0030318ISS-melanocyte differentiation21610032
GO:0030501ISS-positive regulation of bone mineralization-
GO:0030890ISS-positive regulation of B cell proliferation-
GO:0033197IEA-response to vitamin E-
GO:0035690ISS-cellular response to drug-
GO:0035914IEA-skeletal muscle cell differentiation-
GO:0035984ISS-cellular response to trichostatin A-
GO:0042100ISS-B cell proliferation-
GO:0043523ISS-regulation of neuron apoptotic process-
GO:0043524ISS-negative regulation of neuron apoptotic process-
GO:0045652ISS-regulation of megakaryocyte differentiation-
GO:0045663IMP-positive regulation of myoblast differentiation9770491
GO:0045666ISS-positive regulation of neuron differentiation-
GO:0045669ISS-positive regulation of osteoblast differentiation-
GO:0045893IDA-positive regulation of transcription, DNA-templated17696759
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter8455629
GO:0045944IMP-positive regulation of transcription from RNA polymerase II promoter11160896
GO:0046928ISS-regulation of neurotransmitter secretion-
GO:0048167ISS-regulation of synaptic plasticity-
GO:0048643IMP-positive regulation of skeletal muscle tissue development9770491
GO:0048666ISS-neuron development-
GO:0048667ISS-cell morphogenesis involved in neuron differentiation-
GO:0048703IEA-embryonic viscerocranium morphogenesis-
GO:0050680IEA-negative regulation of epithelial cell proliferation-
GO:0050853ISS-B cell receptor signaling pathway-
GO:0051145ISS-smooth muscle cell differentiation-
GO:0051149TAS-positive regulation of muscle cell differentiation-
GO:0051963ISS-regulation of synapse assembly-
GO:0051966ISS-regulation of synaptic transmission, glutamatergic-
GO:0055012ISS-ventricular cardiac muscle cell differentiation-
GO:0060021IEA-palate development-
GO:0060025ISS-regulation of synaptic activity-
GO:0060045ISS-positive regulation of cardiac muscle cell proliferation-
GO:0060079ISS-excitatory postsynaptic potential-
GO:0060290IEA-transdifferentiation-
GO:0060297IEA-regulation of sarcomere organization-
GO:0060536IEA-cartilage morphogenesis-
GO:0060998ISS-regulation of dendritic spine development-
GO:0061333ISS-renal tubule morphogenesis-
GO:0071222ISS-cellular response to lipopolysaccharide-
GO:0071277ISS-cellular response to calcium ion-
GO:0071300IEA-cellular response to retinoic acid-
GO:0071333IEA-cellular response to glucose stimulus-
GO:0071374IDA-cellular response to parathyroid hormone stimulus17696759
GO:0071498ISS-cellular response to fluid shear stress-
GO:0071560IDA-cellular response to transforming growth factor beta stimulus9770491
GO:0071864IEA-positive regulation of cell proliferation in bone marrow-
GO:0072102ISS-glomerulus morphogenesis-
GO:0072160ISS-nephron tubule epithelial cell differentiation-
GO:0090073ISS-positive regulation of protein homodimerization activity-
GO:2000111ISS-positive regulation of macrophage apoptotic process-
GO:2000310ISS-regulation of NMDA receptor activity-
GO:2000311ISS-regulation of AMPA receptor activity-
GO:2000727IDA-positive regulation of cardiac muscle cell differentiation9857019
GO:2000987ISS-positive regulation of behavioral fear response-
GO:2001013ISS-epithelial cell proliferation involved in renal tubule morphogenesis-
GO:2001016IDA-positive regulation of skeletal muscle cell differentiation21556048
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MEF2CMAPK1411037220936779 Two-hybrid
MEF2CMAPK1410781920936779 Two-hybrid
MEF2CEP3001103729001254 Phenotypic Enhancement; Reconstituted Complex
MEF2CEP3001083479001254 Phenotypic Enhancement; Reconstituted Complex
MEF2CEPAS111037220936779 Two-hybrid
MEF2CEPAS110834820936779 Two-hybrid
MEF2CIFRD111037215743821 Affinity Capture-Western; Reconstituted Complex
MEF2CIFRD110969715743821 Affinity Capture-Western; Reconstituted Complex
MEF2CSMAD211037211160896 Reconstituted Complex
MEF2CSMAD211026211160896 Reconstituted Complex
MYOGMEF2C1103728548800 Reconstituted Complex
MYOGMEF2C1107398548800 Reconstituted Complex
MYOD1MEF2C1103729418854 15743821 Reconstituted Complex; Two-hybrid
MYOD1MEF2C1107379418854 15743821 Reconstituted Complex; Two-hybrid
SP1MEF2C1103729748305 Affinity Capture-Western; Two-hybrid
SP1MEF2C1125509748305 Affinity Capture-Western; Two-hybrid
MAPK7MEF2C1103729753748 20936779 Biochemical Activity; Reconstituted Complex; Two-hybrid
MAPK7MEF2C1115849753748 20936779 Biochemical Activity; Reconstituted Complex; Two-hybrid
HDAC4MEF2C11037210523670 11279209 11486037 12709441 15743821 15964851 18332106 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HDAC4MEF2C11510610523670 11279209 11486037 12709441 15743821 15964851 18332106 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HDAC7MEF2C11037211279209 18463162 Affinity Capture-Western; Reconstituted Complex
HDAC7MEF2C11961311279209 18463162 Affinity Capture-Western; Reconstituted Complex
HDAC5MEF2C11037211279209 Reconstituted Complex
HDAC5MEF2C11533111279209 Reconstituted Complex
SOX18MEF2C11037211554755 Affinity Capture-Western; Reconstituted Complex
SOX18MEF2C11993611554755 Affinity Capture-Western; Reconstituted Complex
TWIST2MEF2C11037211809751 Affinity Capture-Western
TWIST2MEF2C12559111809751 Affinity Capture-Western
TEAD1MEF2C11037212061776 Affinity Capture-Western; Reconstituted Complex
TEAD1MEF2C11286212061776 Affinity Capture-Western; Reconstituted Complex
NCOA2MEF2C11037212130539 Reconstituted Complex
NCOA2MEF2C11576112130539 Reconstituted Complex
SIRT1MEF2C11037219553684 Co-localization
SIRT1MEF2C11698319553684 Co-localization
HDAC9MEF2C11037220211142 20936779 Two-hybrid
HDAC9MEF2C11508320211142 20936779 Two-hybrid
COPS5MEF2C11037220936779 Two-hybrid
COPS5MEF2C11618320936779 Two-hybrid
SPTBN1MEF2C11037220936779 Two-hybrid
SPTBN1MEF2C11258920936779 Two-hybrid
YWHAZMEF2C11037220936779 Two-hybrid
YWHAZMEF2C11336620936779 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99458
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040901-7'