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    MEF2C myocyte enhancer factor 2C [ Homo sapiens (human) ]

    Gene ID: 4208, updated on 12-Mar-2017
    Official Symbol
    MEF2Cprovided by HGNC
    Official Full Name
    myocyte enhancer factor 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:6996
    See related
    Ensembl:ENSG00000081189 MIM:600662; Vega:OTTHUMG00000162634
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEL5q14.3; C5DELq14.3
    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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    5q14.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (88718241..88904105, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (88014058..88199922, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TMEM161B antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2060 Neighboring gene long intergenic non-protein coding RNA 461 Neighboring gene microRNA 9-2 Neighboring gene uncharacterized LOC107986361 Neighboring gene uncharacterized LOC107986360 Neighboring gene MEF2C antisense RNA 1 Neighboring gene uncharacterized LOC105379074

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
    MedGen: C3150700 OMIM: 613443 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated (2013-02-28)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-02-28)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    NHGRI GWA Catalog
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    NHGRI GWA Catalog
    Genetic loci for retinal arteriolar microcirculation.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog
    Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.
    NHGRI GWA Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
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      miRs in Muscle Cell Differentiation, organism-specific biosystem
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    AT DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II distal enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    activating transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
     
    miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, RNA polymerase II core promoter sequence-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    B cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    B cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac ventricle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell morphogenesis involved in neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to drug ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to fluid shear stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to parathyroid hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to trichostatin A ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic viscerocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell proliferation involved in renal tubule morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    germinal center formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glomerulus morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    humoral immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    monocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    muscle cell fate determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    myotube differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of ossification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nephron tubule epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neural crest cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    platelet formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of alkaline phosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of behavioral fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cardiac muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation in bone marrow IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    positive regulation of myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of skeletal muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    primary heart field specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of AMPA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of NMDA receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dendritic spine development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of germinal center formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of sarcomere organization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of synaptic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    renal tubule morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to vitamin E IEA
    Inferred from Electronic Annotation
    more info
     
    secondary heart field specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sinoatrial valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    transdifferentiation IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myocyte-specific enhancer factor 2C
    Names
    MADS box transcription enhancer factor 2, polypeptide C

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023427.1 RefSeqGene

      Range
      5001..190865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001131005.2NP_001124477.1  myocyte-specific enhancer factor 2C isoform 2

      See identical proteins and their annotated locations for NP_001124477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC008525, AL833268, AL833274, BP231922, L08895
      Consensus CDS
      CCDS47244.1
      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000389610, OTTHUMP00000222411, ENST00000424173, OTTHUMT00000369818
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    2. NM_001193347.1NP_001180276.1  myocyte-specific enhancer factor 2C isoform 3

      See identical proteins and their annotated locations for NP_001180276.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is longer than isoform 1.
      Source sequence(s)
      AC008525, AL833268, AL833274, BP231922, L08895
      Consensus CDS
      CCDS54878.1
      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000340874, OTTHUMP00000222412, ENST00000340208, OTTHUMT00000369819
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:117171
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. NM_001193348.1NP_001180277.1  myocyte-specific enhancer factor 2C isoform 4

      See identical proteins and their annotated locations for NP_001180277.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AC008525, AL833268, FM163484, L08895
      Consensus CDS
      CCDS54877.1
      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000487311, OTTHUMP00000278385, ENST00000628656, OTTHUMT00000480520
      Conserved Domains (2) summary
      COG5068
      Location:1229
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    4. NM_001193349.1NP_001180278.1  myocyte-specific enhancer factor 2C isoform 5

      See identical proteins and their annotated locations for NP_001180278.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AC008525, AL833268, FM180475, L08895
      Consensus CDS
      CCDS78030.1
      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      D8L7E9
      Related
      ENSP00000487184, OTTHUMP00000278384, ENST00000626391, OTTHUMT00000480519
      Conserved Domains (1) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    5. NM_001193350.1NP_001180279.1  myocyte-specific enhancer factor 2C isoform 1

      See identical proteins and their annotated locations for NP_001180279.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Both variants 1 and 6 encode the same isoform (1).
      Source sequence(s)
      AC008525, AL833268, BC026341, DC377336, DC377710, L08895
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL7
      Related
      ENSP00000396219, OTTHUMP00000222410, ENST00000437473, OTTHUMT00000369817
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    6. NM_001308002.1NP_001294931.1  myocyte-specific enhancer factor 2C isoform 6

      See identical proteins and their annotated locations for NP_001294931.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AL833268, AW191949, DA494302, DA516520, L08895
      Consensus CDS
      CCDS78034.1
      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL6
      Related
      ENSP00000486554, OTTHUMP00000222413, ENST00000629612, OTTHUMT00000369821
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    7. NM_002397.4NP_002388.2  myocyte-specific enhancer factor 2C isoform 1

      See identical proteins and their annotated locations for NP_002388.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1 and 6 encode isoform 1.
      Source sequence(s)
      AC008525, AL833268, DC377336, DC377710, L08895
      Consensus CDS
      CCDS47245.1
      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL7
      Related
      ENSP00000421925, OTTHUMP00000222409, ENST00000504921, OTTHUMT00000369815
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      88718241..88904105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009480.1XP_016864969.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/Swiss-Prot
      Q06413
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    2. XM_017009481.1XP_016864970.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000426665, OTTHUMP00000278382, ENST00000514028, OTTHUMT00000480512
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. XM_017009483.1XP_016864972.1  myocyte-specific enhancer factor 2C isoform X7

      UniProtKB/TrEMBL
      A0A0D9SFD0
      Related
      ENSP00000486490, OTTHUMP00000278379, ENST00000627659, OTTHUMT00000480465
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    4. XM_017009478.1XP_016864967.1  myocyte-specific enhancer factor 2C isoform X4

      UniProtKB/Swiss-Prot
      Q06413
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    5. XM_006714625.3XP_006714688.1  myocyte-specific enhancer factor 2C isoform X8

      See identical proteins and their annotated locations for XP_006714688.1

      UniProtKB/Swiss-Prot
      Q06413
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:117171
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    6. XM_017009482.1XP_016864971.1  myocyte-specific enhancer factor 2C isoform X6

      UniProtKB/TrEMBL
      A0A0R4J2G5
      Related
      ENSP00000422390, OTTHUMP00000222542, ENST00000510942, OTTHUMT00000370092
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    7. XM_017009476.1XP_016864965.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL6
      Related
      ENSP00000490354, OTTHUMP00000282749, ENST00000637481, OTTHUMT00000490554
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    8. XM_017009479.1XP_016864968.1  myocyte-specific enhancer factor 2C isoform X5

      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000490630, OTTHUMP00000282750, ENST00000636998, OTTHUMT00000490555
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    9. XM_011543401.1XP_011541703.1  myocyte-specific enhancer factor 2C isoform X6

      See identical proteins and their annotated locations for XP_011541703.1

      UniProtKB/TrEMBL
      A0A0R4J2G5
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    10. XM_017009477.1XP_016864966.1  myocyte-specific enhancer factor 2C isoform X3

      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL6
      Related
      ENSP00000423597, OTTHUMP00000222544, ENST00000508569, OTTHUMT00000370094
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    11. XM_011543400.1XP_011541702.1  myocyte-specific enhancer factor 2C isoform X5

      See identical proteins and their annotated locations for XP_011541702.1

      UniProtKB/Swiss-Prot
      Q06413
      Related
      ENSP00000424606, OTTHUMP00000222543, ENST00000514015, OTTHUMT00000370093
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    12. XM_006714619.2XP_006714682.1  myocyte-specific enhancer factor 2C isoform X1

      See identical proteins and their annotated locations for XP_006714682.1

      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL7
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    13. XM_011543396.2XP_011541698.1  myocyte-specific enhancer factor 2C isoform X1

      See identical proteins and their annotated locations for XP_011541698.1

      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL7
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    14. XM_005248511.2XP_005248568.1  myocyte-specific enhancer factor 2C isoform X1

      See identical proteins and their annotated locations for XP_005248568.1

      UniProtKB/Swiss-Prot
      Q06413
      UniProtKB/TrEMBL
      A0A024RAL7
      Related
      ENSP00000490473, OTTHUMP00000282752, ENST00000636294, OTTHUMT00000490558
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:107153
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    15. XM_017009475.1XP_016864964.1  myocyte-specific enhancer factor 2C isoform X2

      UniProtKB/TrEMBL
      A0A0D9SGI5
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    16. XM_011543397.2XP_011541699.1  myocyte-specific enhancer factor 2C isoform X2

      See identical proteins and their annotated locations for XP_011541699.1

      UniProtKB/TrEMBL
      A0A0D9SGI5
      Related
      ENSP00000487538, OTTHUMP00000278381, ENST00000625585, OTTHUMT00000480511
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      87447103..87632656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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