Gene
zc4h2
- ID
- ZDB-GENE-030131-2207
- Name
- zinc finger, C4H2 domain containing
- Symbol
- zc4h2 Nomenclature History
- Previous Names
-
- un-named hi2729b
- unm hi2729b
- wu:fb99f08
- zgc:63849
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity. Involved in neuromuscular junction development; positive regulation of neuron differentiation; and spinal cord motor neuron differentiation. Acts upstream of or within neuromuscular process controlling balance; neuron differentiation; and swimming behavior. Located in nucleus. Is expressed in nervous system. Used to study epilepsy. Human ortholog(s) of this gene implicated in Wieacker-Wolff syndrome and female-restricted Wieacker-Wolff syndrome. Orthologous to human ZC4H2 (zinc finger C4H2-type containing).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63849 (6 images)
- IMAGE:6908809 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
ck035a | Allele with one deletion | Unknown | Frameshift | TALEN | |
ck035b | Allele with one deletion | Unknown | Frameshift | TALEN | |
hi2729bTg | Transgenic insertion | Exon 1 | Unknown | DNA | |
sa33577 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa38464 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sdu26 | Allele with one delins | Exon 2 | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-zc4h2 | (3) | |
CRISPR2-zc4h2 | Saunders et al., 2023 | |
CRISPR3-zc4h2 | Saunders et al., 2023 | |
MO1-zc4h2 | N/A | Hirata et al., 2013 |
MO2-zc4h2 | N/A | (3) |
TALEN1-zc4h2 | (4) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
female-restricted Wieacker-Wolff syndrome | Alliance | Wieacker-Wolff syndrome, female-restricted | 301041 |
Wieacker-Wolff syndrome | Alliance | Wieacker-Wolff syndrome | 314580 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
epilepsy | WT + MO2-zc4h2 | standard conditions | Hwang et al., 2020 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Zinc finger C4H2 domain-containing protein | Zinc finger C4H2-type |
---|---|---|---|---|
UniProtKB:Q7T3I0 | InterPro | 224 |
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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 | DKEY-286F3 | ZFIN Curated Data | |
Encodes | EST | fb99f08 | ||
Encodes | EST | IMAGE:6908809 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:63849 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_199642 (1) | 1710 nt | ||
Genomic | GenBank:CR812469 (2) | 162086 nt | ||
Polypeptide | UniProtKB:Q7T3I0 (1) | 224 aa |
- Mohd Fahmi, M.S.A., Swain, P., Ramli, A.H., Wan Ibrahim, W.N., Saleh Hodin, N.A., Abu Bakar, N., Tan, Y.S., Mohd Faudzi, S.M., Kim, C.H. (2023) In silico studies, X-ray diffraction analysis and biological investigation of fluorinated pyrrolylated-chalcones in zebrafish epilepsy models. Heliyon. 9:e13685e13685
- Saunders, L.M., Srivatsan, S.R., Duran, M., Dorrity, M.W., Ewing, B., Linbo, T.H., Shendure, J., Raible, D.W., Moens, C.B., Kimelman, D., Trapnell, C. (2023) Embryo-scale reverse genetics at single-cell resolution. Nature. 623(7988):782-791
- Yang, S., Xu, X., Zhang, A., Wang, Y., Ji, G., Sun, C., Li, H. (2023) The evolution and immunomodulatory role of Zc3h12 proteins in zebrafish (Danio rerio). International journal of biological macromolecules. 239:124214
- Wongkittichote, P., Choi, T.I., Kim, O.H., Riley, K., Koeberl, D., Narayanan, V., Ramsey, K., Balak, C., Schwartz, C., Cueto-Gonzalez, A.M., Munell Casadesus, F., Kim, C.H., Shinawi, M.S. (2022) Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: a novel hypomorphic variant and high prevalence of tethered cord. Clinical genetics. 103(2):167-178
- Hwang, K.S., Kan, H., Kim, S.S., Chae, J.S., Yang, J.Y., Shin, D.S., Ahn, S.H., Ahn, J.H., Cho, J.H., Jang, I.S., Shin, J., Joo, J., Kim, C.H., Bae, M.A. (2020) Efficacy and pharmacokinetics evaluation of 4-(2-chloro-4-fluorobenzyl)-3-(2-thienyl)-1,2,4-oxadiazol-5(4H)-one (GM-90432) as an anti-seizure agent. Neurochemistry international. 141:104870
- Frints, S.G.M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H.H., Hunt, D., Mendelsohn, B.A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Deciphering Developmental Disorders (DDD) Study, Fernández-Jaén, A., van Roozendaal, K., Stevens, S.J.C., Macville, M.V.E., Al-Nasiry, S., van Gassen, K., Utzig, N., Koudijs, S.M., McGregor, L., Maas, S.M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A.S., Engle, E.C., Houge, G., Gradek, G.A., Douglas, A.G.L., Longman, C., Joss, S., Velasco, D., Hennekam, R.C., Hirata, H., Kalscheuer, V.M. (2019) Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation. 40(12):2270-2285
- Li, R., Guo, W., Lei, L., Zhang, L., Liu, Y., Han, J., Chen, L., Zhou, B. (2019) Early-life exposure to the organophosphorus flame-retardant tris (1,3-dichloro-2-propyl) phosphate induces delayed neurotoxicity associated with DNA methylation in adult zebrafish. Environment International. 134:105293
- Gao, D., Wang, C., Xi, Z., Zhou, Y., Wang, Y., Zuo, Z. (2017) Early-Life Benzo[a]Pyrene Exposure Causes Neurodegenerative Syndromes in Adult Zebrafish (Danio rerio) and the Mechanism Involved. Toxicological sciences : an official journal of the Society of Toxicology. 157(1):74-84
- May, M., Hwang, K.S., Miles, J., Williams, C., Niranjan, T., Kahler, S.G., Chiurazzi, P., Steindl, K., van der Spek, P.J., Swagemakers, S., Mueller, J., Stefl, S., Alexov, E., Ryu, J.I., Choi, J.H., Kim, H.T., Tarpey, P., Neri, G., Holloway, L., Skinner, C., Stevenson, R.E., Dorsky, R.I., Wang, T., Schwartz, C.E., Kim, C.H. (2015) ZC4H2, an XLID Gene, is Required for the Generation of a Specific Subset of CNS Interneurons. Human molecular genetics. 24(17):4848-61
- Roberto, V.P., Tiago, D.M., Gautvik, K., Cancela, M.L. (2015) Evidence for the conservation of miR-223 in zebrafish (Danio rerio): Implications for function. Gene. 566(1):54-62
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