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 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 located in nucleus. Is expressed in several structures, including bone element; brain; cardiovascular system; mesoderm; 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
- 40 figures from 25 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh288 | Allele with one point mutation | Unknown | Unknown | ENU | |
| mef2cb_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| s3024 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa20523 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-mef2cb | N/A | Lazic et al., 2011 |
| MO2-mef2cb | N/A | Hinits et al., 2012 |
| MO3-mef2cb | N/A | Hinits et al., 2012 |
| MO4-mef2cb | N/A | Raices et al., 2017 |
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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 |
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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 |
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| 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-202E12 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001130962 (1) | 1534 nt | ||
| Genomic | GenBank:BX465834 (2) | 176520 nt | ||
| Polypeptide | UniProtKB:A0A8M3B2S1 (1) | 483 aa |
- Sam, J., Torregroza, I., Evans, T. (2024) Gata6 functions in zebrafish endoderm to regulate late differentiating arterial pole cardiogenesis. Development (Cambridge, England). 151(17):
- Wu, R., Sun, Y., Zhou, Z., Dong, Z., Liu, Y., Liu, M., Gao, H. (2024) MEF2C contributes to axonal branching by regulating Kif2c transcription. The European journal of neuroscience. 59(12):3389-3402
- Adrião, A., Mariano, S., Mariano, J., Gavaia, P.J., Cancela, M.L., Vitorino, M., Conceição, N. (2023) mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour. Biomolecules. 13(5):
- Shainer, I., Kuehn, E., Laurell, E., Al Kassar, M., Mokayes, N., Sherman, S., Larsch, J., Kunst, M., Baier, H. (2023) A single-cell resolution gene expression atlas of the larval zebrafish brain. Science advances. 9:eade9909
- Singh Angom, R., Wang, Y., Wang, E., Dutta, S., Mukhopadhyay, D. (2023) Conditional, Tissue-Specific CRISPR/Cas9 Vector System in Zebrafish Reveals the Role of Nrp1b in Heart Regeneration. Arteriosclerosis, Thrombosis, and Vascular Biology. 43(10):1921-1934
- Bailon-Zambrano, R., Sucharov, J., Mumme-Monheit, A., Murry, M., Stenzel, A., Pulvino, A.T., Mitchell, J.M., Colborn, K.L., Nichols, J. (2022) Variable paralog expression underlies phenotype variation. eLIFE. 11:
- Ciampi, L., Mantica, F., López-Blanch, L., Permanyer, J., Rodriguez-Marín, C., Zang, J., Cianferoni, D., Jiménez-Delgado, S., Bonnal, S., Miravet-Verde, S., Ruprecht, V., Neuhauss, S.C.F., Banfi, S., Carrella, S., Serrano, L., Head, S.A., Irimia, M. (2022) Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision. Proceedings of the National Academy of Sciences of the United States of America. 119:e2117090119
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Duong, T.B., Holowiecki, A., Waxman, J.S. (2021) Retinoic acid signaling restricts the size of the first heart field within the anterior lateral plate mesoderm. Developmental Biology. 473:119-129
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
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