Gene

mef2ca

ID
ZDB-GENE-980526-253
Name
myocyte enhancer factor 2ca
Symbol
mef2ca Nomenclature History
Previous Names
  • mef2c
  • hoo
  • hoover
  • id:ibd5026
  • wu:fc05b06
  • zgc:64184
  • zgc:85726
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 nuclear chromatin. Is expressed in several structures, including brain; mesoderm; musculature system; pericardial region; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 20. Orthologous to human MEF2C (myocyte enhancer factor 2C).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
47 figures from 31 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 9 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mef2ca Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Alliance Chromosome 5q14.3 deletion syndrome 613443
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Alliance Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 613443
Associated With mef2ca Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002100 Transcription factor, MADS-box
Domain IPR022102 Holliday junction regulator protein family C-terminal
Domain IPR033896 MADS MEF2-like
Family IPR050142 MADS-box/MEF2 Transcription Factor
Homologous_superfamily IPR036879 Transcription factor, MADS-box superfamily
Domain Details Per Protein
Protein Length Holliday junction regulator protein family C-terminal MADS-box/MEF2 Transcription Factor MADS MEF2-like Transcription factor, MADS-box Transcription factor, MADS-box superfamily
UniProtKB:Q6PCS3 465
UniProtKB:A0A8M3AX72 457
UniProtKB:A0A8M3AX99 462
UniProtKB:A0A8M3B3N7 473
UniProtKB:A0A8M2BGJ3 449
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA mef2ca-201 Ensembl 3,502 nt
mRNA mef2ca-202 (1) Ensembl 4,285 nt
mRNA mef2ca-203 Ensembl 3,567 nt
mRNA mef2ca-204 Ensembl 6,164 nt
mRNA mef2ca-205 Ensembl 393 nt
mRNA mef2ca-206 Ensembl 318 nt
mRNA mef2ca-207 Ensembl 393 nt
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-mef2 polyclonal IgG Rabbit
  • IHC
AnaSpec
5
Ab2-mef2c polyclonal Rabbit
  • WB
AnaSpec
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations