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; skeletal system development; and striated muscle cell 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
- 49 figures from 33 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85726 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b631 | Allele with one point mutation | Unknown | Missense | not specified | |
| b1086 | Allele with one point mutation | Exon 2 | Premature Stop | ENU | |
| sa2569 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31806 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34988 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34989 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| tn213 | Allele with one point mutation | Donor Splice Site of Intron 7 | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-mef2ca | N/A | (3) |
| MO2-mef2ca,mef2d | N/A | (2) |
| MO3-mef2d,mef2ca | N/A | (3) |
| MO4-mef2ca | N/A | Miller et al., 2007 |
| MO5-mef2ca | N/A | (2) |
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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:Q6PCS3 | InterPro | 465 | ||||
| UniProtKB:A0A8M3AX72 | InterPro | 457 | ||||
| UniProtKB:A0A8M3AX99 | InterPro | 462 | ||||
| UniProtKB:A0A8M3B3N7 | InterPro | 473 | ||||
| UniProtKB:A0A8M2BGJ3 | InterPro | 449 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mef2ca-201
|
Ensembl | 3,502 nt | ||
| mRNA |
mef2ca-202
(1)
|
Ensembl | 4,285 nt | ||
| mRNA |
mef2ca-203
|
Ensembl | 3,567 nt | ||
| mRNA |
mef2ca-204
|
Ensembl | 6,164 nt | ||
| mRNA |
mef2ca-205
|
Ensembl | 393 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 | CH73-215F7 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-234A2 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-412J12 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-418F12 | ZFIN Curated Data | |
| Encodes | EST | fc05b06 | ||
| Encodes | EST | ibd5026 | ||
| Encodes | cDNA | MGC:64184 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:85726 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131312 (1) | 4315 nt | ||
| Genomic | GenBank:CU462873 | 95788 nt | ||
| Polypeptide | UniProtKB:A0A8M3B3N7 (1) | 473 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | MEF2C | 5 | Conserved genome location (synteny) (3) Other (1) Phylogenetic tree (1) Nucleotide sequence comparison (1) Amino acid sequence comparison (5) | |
| Mouse | Mef2c | 13 | Phylogenetic tree (1) Nucleotide sequence comparison (1) Conserved genome location (synteny) (2) Amino acid sequence comparison (4) |
- Sam, J., Torregroza, I., Evans, T. (2024) Gata6 functions in zebrafish endoderm to regulate late differentiating arterial pole cardiogenesis. Development (Cambridge, England). 151(17):
- Zhou, C., Li, M., Sun, Y., Sultan, Y., Li, X. (2024) Systematic Identification of Long Noncoding RNAs during Three Key Organogenesis Stages in Zebrafish. International Journal of Molecular Sciences. 25(6):
- 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):
- 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:
- Lu, Y., Tang, D., Zheng, Z., Wang, X., Zuo, N., Yan, R., Wu, C., Ma, J., Wang, C., Xu, H., He, Y., Liu, D., Liu, S. (2022) Cingulin b Is Required for Zebrafish Lateral Line Development Through Regulation of Mitogen-Activated Protein Kinase and Cellular Senescence Signaling Pathways. Frontiers in molecular neuroscience. 15:844668
- Ouyang, S., Qin, W.M., Niu, Y.J., Ding, Y.H., Deng, Y. (2022) An EGFP Knock-in Zebrafish Experimental Model Used in Evaluation of the Amantadine Drug Safety During Early Cardiogenesis. Frontiers in cardiovascular medicine. 9:839166
- Varela, T., Varela, D., Martins, G., Conceição, N., Cancela, M.L. (2022) Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder. Scientific Reports. 12:9325
- Jing, Y., Ren, Y., Witzel, H.R., Dobreva, G. (2021) A BMP4-p38 MAPK signaling axis controls ISL1 protein stability and activity during cardiogenesis. Stem Cell Reports. 16(8):1894-1905
- Lüffe, T.M., D'Orazio, A., Bauer, M., Gioga, Z., Schoeffler, V., Lesch, K.P., Romanos, M., Drepper, C., Lillesaar, C. (2021) Increased locomotor activity via regulation of GABAergic signalling in foxp2 mutant zebrafish-implications for neurodevelopmental disorders. Translational psychiatry. 11:529
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