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
- Enables transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including ligamentous ossification; muscle cell development; and skeletal system development. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including brain; fin bud; musculature system; pericardial region; and pharyngeal arch. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language. 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