Gene
wdr62
- ID
- ZDB-GENE-060503-291
- Name
- WD repeat domain 62
- Symbol
- wdr62 Nomenclature History
- Previous Names
-
- fa11h05
- fb33e12
- si:ch211-152c12.2
- wu:fa11h05
- wu:fb33e12
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Acts upstream of or within heart development. Predicted to be active in mitotic spindle. Used to study microcephaly. Human ortholog(s) of this gene implicated in intellectual disability; polymicrogyria; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 2 with or without cortical malformations. Orthologous to human WDR62 (WD repeat domain 62).
- 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
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la027663Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa5875 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8577 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11070 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16137 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22583 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa28400 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ulb11 | Allele with one deletion | Exon 1 | Unknown | TALEN | |
| ulb12 | Allele with one deletion | Exon 1 | Unknown | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-wdr62 | N/A | Novorol et al., 2013 |
| MO2-wdr62 | N/A | Hao et al., 2022 |
| TALEN1-wdr62 | Duerinckx et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 2 with or without cortical malformations | Alliance | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 604317 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | WT + MO1-wdr62 | standard conditions | Novorol et al., 2013 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR056161 | MABP1/WDR62, first WD40 domain |
| Domain | IPR056162 | MABP1/WDR62, second WD40 domain |
| Family | IPR055292 | Mitogen-activated protein kinase-binding protein 1 |
| Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | MABP1/WDR62, first WD40 domain | MABP1/WDR62, second WD40 domain | Mitogen-activated protein kinase-binding protein 1 | Quinoprotein alcohol dehydrogenase-like superfamily | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F6NPK9 | InterPro | 1493 | |||||||
| UniProtKB:A0A8M2BH37 | InterPro | 1492 | |||||||
| UniProtKB:A0A286YBK5 | InterPro | 1519 | |||||||
| UniProtKB:A0A8M2BGZ4 | InterPro | 1518 |
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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 | CH211-152C12 | ZFIN Curated Data | |
| Contains | SNP | rs3728690 | ZFIN Curated Data | |
| Contains | SNP | rs3728691 | ZFIN Curated Data | |
| Encodes | EST | fa11h05 | ||
| Encodes | EST | fb33e12 | ||
| Encodes | cDNA | MGC:195119 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001312680 (1) | 5204 nt | ||
| Genomic | GenBank:CR388135 (2) | 159848 nt | ||
| Polypeptide | UniProtKB:A0A286YBK5 (1) | 1519 aa |
- Sun, K., Han, Y., Li, J., Yu, S., Huang, Y., Zhang, Y., Reilly, J., Tu, J., Gao, P., Jia, D., Chen, X., Hu, H., Ren, M., Li, P., Luo, J., Ren, X., Zhang, X., Shu, X., Liu, F., Liu, M., Tang, Z. (2023) The splicing factor DHX38 enables retinal development through safeguarding genome integrity. iScience. 26:108103108103
- Hao, L., Ma, J., Wu, F., Ma, X., Qian, M., Sheng, W., Yan, T., Tang, N., Jiang, X., Zhang, B., Xiao, D., Qian, Y., Zhang, J., Jiang, N., Zhou, W., Chen, W., Ma, D., Huang, G. (2022) WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clinical and translational medicine. 12:e941
- Lin, X., Liu, F., Meng, K., Liu, H., Zhao, Y., Chen, Y., Hu, W., Luo, D. (2022) Comprehensive Transcriptome Analysis Reveals Sex-Specific Alternative Splicing Events in Zebrafish Gonads. Life (Basel, Switzerland). 12(9)
- Lefkopoulos, S., Polyzou, A., Derecka, M., Bergo, V., Clapes, T., Cauchy, P., Jerez-Longres, C., Onishi-Seebacher, M., Yin, N., Martagon-Calderón, N.A., Potts, K.S., Klaeylé, L., Liu, F., Bowman, T.V., Jenuwein, T., Mione, M.C., Trompouki, E. (2020) Repetitive Elements Trigger RIG-I-like Receptor Signaling that Regulates the Emergence of Hematopoietic Stem and Progenitor Cells. Immunity. 53:934-951.e9
- Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., Badoer, C., Papadimitriou, S., Borgne, Y.L., Lefort, A., Libert, F., Maertelaer, V., Rooman, M., Costagliola, S., Verloes, A., Lenaerts, T., Pirson, I., Abramowicz, M. (2019) Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways. Human Mutation. 41(2):512-524
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- He, J., Yang, Y., Zhang, J., Chen, J., Wei, X., He, J., Luo, L. (2017) Ribosome biogenesis protein Urb1 acts downstream of mTOR complex 1 to modulate digestive organ development in zebrafish. Journal of genetics and genomics = Yi chuan xue bao. 44(12):567-576
- 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
- Novorol, C., Burkhardt, J., Wood, K.J., Iqbal, A., Roque, C., Coutts, N., Almeida, A.D., He, J., Wilkinson, C.J., and Harris, W.A. (2013) Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Open Biology. 3(10):130065
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
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