Gene
hecw2b
- ID
- ZDB-GENE-101001-3
- Name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2b
- Symbol
- hecw2b Nomenclature History
- Previous Names
-
- nedl2b (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in regulation of dendrite morphogenesis and ubiquitin-dependent protein catabolic process. Predicted to be active in cytoplasm. Orthologous to human HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa5933 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17893 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18393 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19412 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19413 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32583 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38241 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39539 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hecw2b | LaCoursiere et al., 2024 | |
| CRISPR2-hecw2b | LaCoursiere et al., 2024 | |
| CRISPR3-hecw2b | LaCoursiere et al., 2024 | |
| TALEN1-hecw2b | Xiao et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | E3 ubiquitin-protein ligase | E3 ubiquitin-protein ligase HECW1/2, N-terminal | E3 ubiquitin-protein ligase HECW1, helical box domain | E3 ubiquitin-protein ligase HECW, C2 domain | HECT domain | HECT, E3 ligase catalytic domain | WW domain | WW domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RSA0 | InterPro | 1472 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hecw2b-201
(1)
|
Ensembl | 1,350 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 | Fosmid | CH1073-96G22 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_003197612 (1) | 5154 nt | ||
| Genomic | GenBank:LO018629 (1) | 98774 nt | ||
| Polypeptide | UniProtKB:A0A8M1RSA0 (1) | 1472 aa |
- Comparative Orthology
- Alliance
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Lu, Q., Zhang, M.N., Shi, X.Y., Zhang, L.Q., Wang, Y.Y., Liu, L.Y., He, W., Chen, H.M., He, B., Zou, L.P. (2020) Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. American journal of medical genetics. Part A. 185(2):377-383
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Angers, A., Drapeau, P. (2014) Itch Is Required for Lateral Line Development in Zebrafish. PLoS One. 9:e111799
- Xiao, A., Wang, Z., Hu, Y., Wu, Y., Luo, Z., Yang, Z., Zu, Y., Li, W., Huang, P., Tong, X., Zhu, Z., Lin, S., and Zhang, B. (2013) Chromosomal deletions and inversions mediated by TALENs and CRISPR/Cas in zebrafish. Nucleic acids research. 41(14):e141
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