Gene
setd2
- ID
- ZDB-GENE-030131-2140
- Name
- SET domain containing 2, histone lysine methyltransferase
- Symbol
- setd2 Nomenclature History
- Previous Names
-
- fb97h09
- wu:fb97h09 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Enables histone H3K36 methyltransferase activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within chromatin organization and regulation of DNA-templated transcription. Predicted to be active in chromosome and nucleus. Is expressed in central nervous system; intermediate cell mass of mesoderm; and telencephalon. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 70; clear cell renal cell carcinoma; gastrointestinal system cancer (multiple); lung disease (multiple); and malignant mesothelioma (multiple). Orthologous to human SETD2 (SET domain containing 2, histone lysine methyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Liu et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| rj33 | Allele with one delins | Exon 3 | Frameshift | CRISPR | |
| rj34 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| rj35 | Allele with one delins | Exon 19 | Frameshift | CRISPR | |
| sa678 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa9194 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22792 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa25011 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36079 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39086 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42691 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-setd2 | Liu et al., 2020 | |
| CRISPR2-setd2 | Liu et al., 2020 | |
| MO1-setd2 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 70 | Alliance | Intellectual developmental disorder, autosomal dominant 70 | 620157 |
| Luscan-Lumish syndrome | 616831 | ||
| Rabin-Pappas syndrome | 620155 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | AWS domain | Histone-lysine N-methyltransferase SETD2, animal | Post-SET domain | Set2 Rpb1 interacting domain | Set2 Rpb1 interacting domain superfamily | SETD2/Set2, SET domain | SET domain | SET domain superfamily | WW domain | WW domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PJZ4 | InterPro | 2723 | ||||||||||
| UniProtKB:F1QJI9 | InterPro | 2737 |
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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 | CH211-193P21 | ||
| Contained in | BAC | DKEY-43F15 | ZFIN Curated Data | |
| Contains | SNP | rs3728778 | ||
| Contains | SNP | rs3728779 | ZFIN Curated Data | |
| Contains | SNP | rs3728780 | ZFIN Curated Data | |
| Contains | SNP | rs3728781 | ZFIN Curated Data | |
| Encodes | EST | fb97h09 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009292184 (1) | 9914 nt | ||
| Genomic | GenBank:CU138519 (2) | 93287 nt | ||
| Polypeptide | UniProtKB:F1QJI9 (1) | 2737 aa |
- Calvird, A.E., Broniec, M.N., Duval, K.L., Higgs, A.N., Arora, V., Ha, L.N., Schouten, E.B., Crippen, A.R., McGrail, M., Laue, K., Goll, M.G. (2022) Uncovering Regulators of Heterochromatin Mediated Silencing Using a Zebrafish Transgenic Reporter. Frontiers in cell and developmental biology. 10:832461
- Gabellini, C., Pucci, C., De Cesari, C., Martini, D., Di Lauro, C., Digregorio, M., Norton, W., Zippo, A., Sessa, A., Broccoli, V., Andreazzoli, M. (2022) CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish. International Journal of Molecular Sciences. 24(1):
- Liu, D.J., Zhang, F., Chen, Y., Jin, Y., Zhang, Y.L., Chen, S.B., Xie, Y.Y., Huang, Q.H., Zhao, W.L., Wang, L., Xu, P.F., Chen, Z., Chen, S.J., Li, B., Zhang, A., Sun, X.J. (2020) setd2 knockout zebrafish is viable and fertile: differential and developmental stress-related requirements for Setd2 and histone H3K36 trimethylation in different vertebrate animals. Cell discovery. 6:72
- Fellous, A., Earley, R.L., Silvestre, F. (2018) The Kdm/Kmt gene families in the self-fertilizing mangrove rivulus fish, Kryptolebias marmoratus, suggest involvement of histone methylation machinery in development and reproduction. Gene. 687:173-187
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Sun, X.J., Xu, P.F., Zhou, T., Hu, M., Fu, C.T., Zhang, Y., Jin, Y., Chen, Y., Chen, S.J., Huang, Q.H., Liu, T.X., and Chen, Z. (2008) Genome-Wide Survey and Developmental Expression Mapping of Zebrafish SET Domain-Containing Genes. PLoS One. 3(1):e1499
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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