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. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 20. Is expressed in several structures, including bone element; brain; cardiovascular system; mesoderm; and pharyngeal arch. Orthologous to human MEF2C (myocyte enhancer factor 2C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 24 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
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:B5A8L9
|
475 | |||||
UniProtKB:A0A8M6Z0P2
|
466 | |||||
UniProtKB:A0A2R8QP40
|
472 | |||||
UniProtKB:F1QNL1
|
475 | |||||
UniProtKB:A0A8M6Z6Z1
|
480 | |||||
UniProtKB:A0A8M3ASR6
|
463 | |||||
UniProtKB:A0A8M3ASM1
|
471 | |||||
UniProtKB:A2BGA7
|
474 | |||||
UniProtKB:A0A8M3B9V7
|
483 | |||||
UniProtKB:A0A8M3B2S1
|
483 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
mef2cb-201
(1)
|
Ensembl | 1534 nt | |
mRNA |
mef2cb-202
(1)
|
Havana | 1580 nt | |
mRNA |
mef2cb-204
(1)
|
Ensembl | 5638 nt | |
mRNA |
mef2cb-205
(1)
|
Ensembl | 5988 nt | |
mRNA |
mef2cb-206
(1)
|
Ensembl | 805 nt | |
mRNA |
mef2cb-207
(1)
|
Ensembl | 5979 nt | |
mRNA |
mef2cb-208
(1)
|
Ensembl | 5888 nt | |
mRNA |
mef2cb-209
(1)
|
Ensembl | 5683 nt | |
ncRNA |
mef2cb-002
(1)
|
Havana | 807 nt |
Interactions and Pathways
No data available
Plasmids
No data available