Gene
mef2cb
- ID
- ZDB-GENE-040901-7
- Name
- myocyte enhancer factor 2cb
- Symbol
- mef2cb Nomenclature History
- Previous Names
-
- si:ch211-202e12.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and histone deacetylase binding activity. Involved in heart development and transcription, DNA-templated. Predicted to localize to nuclear chromatin. Is expressed in several structures, including bone element; brain; cardiovascular system; mesoderm; 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
-
- All Expression Data
- 37 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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:A0A2R8RQE8
|
81 | ||||
UniProtKB:A0A076GH28
|
472 | ||||
UniProtKB:B5A8L9
|
475 | ||||
UniProtKB:A0A0R4ITE5
|
483 | ||||
UniProtKB:F1QNL1
|
475 | ||||
UniProtKB:A0A0U2S6D4
|
72 | ||||
UniProtKB:A2BGA7
|
474 | ||||
UniProtKB:A0A2R8QP40
|
472 | ||||
UniProtKB:A0A0U3JR38
|
137 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
mef2cb-202
(1)
|
1580 nt | |
ncRNA |
mef2cb-002
(1)
|
807 nt |
Interactions and Pathways
No data available
Plasmids
No data available