ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 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. Acts upstream of or within DNA-templated transcription and heart development. Predicted to be active in nucleus. Is expressed in several structures, including bone element; brain; cardiovascular system; head; and mesoderm. 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
- 40 figures from 25 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 | Additional Resources | Length | Holliday junction regulator protein family C-terminal | MADS MEF2-like, N-terminal | Transcription factor, MADS-box | Transcription factor, MADS-box superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:B5A8L9 | InterPro | 475 | ||||
| UniProtKB:A0A8M6Z0P2 | InterPro | 466 | ||||
| UniProtKB:A0A2R8QP40 | InterPro | 472 | ||||
| UniProtKB:F1QNL1 | InterPro | 475 | ||||
| UniProtKB:A0A8M6Z6Z1 | InterPro | 480 | ||||
| UniProtKB:A0A8M3ASR6 | InterPro | 463 | ||||
| UniProtKB:A0A8M3ASM1 | InterPro | 471 | ||||
| UniProtKB:A2BGA7 | InterPro | 474 | ||||
| UniProtKB:A0A8M3B9V7 | InterPro | 483 | ||||
| UniProtKB:A0A8M3B2S1 | InterPro | 483 | ||||
| UniProtKB:A0AB32TRE1 | InterPro | 480 | ||||
| UniProtKB:A0AB32TWY1 | InterPro | 466 | ||||
| UniProtKB:A0AC58JL67 | InterPro | 472 | ||||
| UniProtKB:A0AC58JL68 | InterPro | 480 | ||||
| UniProtKB:A0AC58JL70 | InterPro | 428 | ||||
| UniProtKB:A0AC58JL71 | InterPro | 428 | ||||
| UniProtKB:A0AC58JL72 | InterPro | 475 | ||||
| UniProtKB:A0AC58JL73 | InterPro | 466 | ||||
| UniProtKB:A0AC58JL74 | InterPro | 420 | ||||
| UniProtKB:A0AC58JL75 | InterPro | 411 | ||||
| UniProtKB:A0AC58JL76 | InterPro | 420 | ||||
| UniProtKB:A0AC58JL90 | InterPro | 463 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mef2cb-201
(1)
|
Ensembl | 1,534 nt | ||
| mRNA |
mef2cb-202
(1)
|
Ensembl | 1,580 nt | ||
| mRNA |
mef2cb-204
(1)
|
Ensembl | 5,638 nt | ||
| mRNA |
mef2cb-205
(1)
|
Ensembl | 5,988 nt | ||
| mRNA |
mef2cb-206
(1)
|
Ensembl | 805 nt | ||
| mRNA |
mef2cb-207
(1)
|
Ensembl | 5,979 nt | ||
| mRNA |
mef2cb-208
(1)
|
Ensembl | 5,888 nt | ||
| mRNA |
mef2cb-209
(1)
|
Ensembl | 5,683 nt | ||
| ncRNA |
mef2cb-002
(1)
|
Ensembl | 807 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers