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 methylation. 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
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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001202 | WW domain |
| Domain | IPR001214 | SET domain |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR006560 | AWS domain |
| Domain | IPR013257 | Set2 Rpb1 interacting domain |
| Domain | IPR044437 | SETD2/Set2, SET domain |
| Family | IPR042294 | Histone-lysine N-methyltransferase SETD2, animal |
| Homologous_superfamily | IPR036020 | WW domain superfamily |
| Homologous_superfamily | IPR038190 | Set2 Rpb1 interacting domain superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
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 |
Interactions and Pathways
No data available
Plasmids
No data available