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ZIRC
ZFIN ID: ZDB-GENE-980526-253
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Gene Name: myocyte enhancer factor 2ca
Gene Symbol: mef2ca    Nomenclature History

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Previous Names: mef2c, hoo, hoover, id:ibd5026, wu:fc05b06, zgc:64184, zgc:85726

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 10 Mapping Details/Browsers
Description: Exhibits transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; ligamentous ossification; and skeletal muscle myosin thick filament assembly. Predicted to localize to the nuclear chromatin. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 20. Is expressed in several structures, including brain; mesoderm; musculature system; pericardial region; and pharyngeal arch. Orthologous to several human genes including MEF2C (myocyte enhancer factor 2C).
Genome Resources: Alliance (1),  Gene:30575 (1),  Ensembl(GRCz11):ENSDARG00000029764 (2)
GENE EXPRESSION
All Expression Data: 38 figures from 23 publications
Directly Submitted Expression Data: 6 figures (15 images) from Thisse et al., 2004 [MGC:85726]
  2 figures (3 images) from Kudoh et al., 2001 [ibd5026]
Wild-type Stages, Structures: Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b631 Point Mutation Unknown Missense
  • Zebrafish International Resource Center (ZIRC) (order this)
    • b1086 Point Mutation Exon 2 Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa2569 Point Mutation Unknown Splice Site ENU
    sa31806 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa34988 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa34989 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • tn213 Point Mutation Donor Splice Site of Intron 7 Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
    • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-mef2ca N/A 3
    MO2-mef2ca,mef2d N/A 2
    MO3-mef2d,mef2ca N/A 2
    MO4-mef2ca N/A 1
    MO5-mef2ca N/A 2
    PHENOTYPE
    Data: 14 figures from 8 publications
    Observed in:
    DISEASE ASSOCIATED WITH mef2ca HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal dominant mental retardation 20 Alliance Chromosome 5q14.3 deletion syndrome 613443
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443
    DISEASE ASSOCIATED WITH mef2ca VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process positive regulation of transcription by RNA polymerase II (more)
    Cellular Component nucleus (more)
    Molecular Function transcription regulatory region sequence-specific DNA binding (more)
    GO Terms (all 24)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR002100 (1)
  • InterPro:IPR022102 (1)
  • InterPro:IPR033896 (1)
  • InterPro:IPR036879 (1)
  • PROSITE:PS00350 (1)
  • PROSITE:PS50066 (1)
  • Pfam:PF00319 (1)
  • Pfam:PF12347 (1)
    • TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mef2ca-201    Ensembl 3502
    Select Tool
    mef2ca-203    Ensembl 3567
    Select Tool
    mef2ca-204    Ensembl 6164
    Select Tool
    mef2ca-205    Ensembl 393
    Select Tool
    mef2ca-206    Ensembl 318
    Select Tool
    mef2ca-207    Ensembl 393
    Select Tool
    Browsers: UCSC,  NCBI,  Ensembl,  ZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab2-mef2 polyclonal IgG Rabbit IHC AnaSpec
    		2
    Ab2-mef2c polyclonal Rabbit WB AnaSpec
    		2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM mef2ca No data available
    MARKER RELATIONSHIPS
    mef2ca Contained in: [BAC] CH73-215F7 (1) (order this)
    [Fosmid] CH1073-234A2 (1) (order this), CH1073-412J12 (1) (order this), CH1073-418F12 (1) (order this)
    mef2ca Encodes: [EST] fc05b06, ibd5026 (order this)
    [cDNA] MGC:64184 (1) (order this), MGC:85726 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131312 (1) 4315 bp
    Select Tool
    Genomic GenBank:CU462873 (1) 95788 bp
    Select Tool
    Polypeptide UniProtKB:Q6NSN7 (1) 491 aa
    Select Tool
    Sequence Clusters UniGene:3182 (1)
    Sequence Information (all 60)
    ORTHOLOGY for mef2ca ( Chr: 10 )
    CITATIONS (87)