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. 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 human MEF2C (myocyte enhancer factor 2C).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 46 figures from 30 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85726 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Holliday junction regulator protein family C-terminal | 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 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
mef2ca-201
|
3502 nt | |
mRNA |
mef2ca-203
|
3567 nt | |
mRNA |
mef2ca-204
|
6164 nt | |
mRNA |
mef2ca-205
|
393 nt | |
mRNA |
mef2ca-206
|
318 nt | |
mRNA |
mef2ca-207
|
393 nt |
Interactions and Pathways
No data available
Plasmids
No data available