Gene
nsd2
- ID
- ZDB-GENE-030131-2581
- Name
- nuclear receptor binding SET domain protein 2
- Symbol
- nsd2 Nomenclature History
- Previous Names
-
- fc12c04
- si:rp71-77d7.2
- whsc1
- wu:fc12c04
- wu:fi20c01
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have histone methyltransferase activity (H3-K36 specific). Involved in cartilage development; embryonic skeletal system development; and histone H3-K36 dimethylation. Predicted to localize to chromatin and nucleus. Human ortholog(s) of this gene implicated in Wolf-Hirschhorn syndrome. Is expressed in several structures, including fin; immature eye; nervous system; neural plate; and pleuroperitoneal region. Orthologous to human NSD2 (nuclear receptor binding SET domain protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158283 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Rauch-Steindl syndrome | 619695 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019786 | Zinc finger, PHD-type, conserved site |
| Domain | IPR000313 | PWWP domain |
| Domain | IPR001214 | SET domain |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR006560 | AWS domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR041306 | NSD, Cys-His rich domain |
| Domain | IPR047435 | Nuclear SET domain-containing protein 2, second PWWP domain |
| Domain | IPR047437 | Nuclear SET domain-containing protein 2, SET domain |
| Family | IPR050777 | SET2 Histone-Lysine N-Methyltransferase |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
Domain Details Per Protein
| Protein | Length | AWS domain | NSD, Cys-His rich domain | Nuclear SET domain-containing protein 2, second PWWP domain | Nuclear SET domain-containing protein 2, SET domain | Post-SET domain | PWWP domain | SET2 Histone-Lysine N-Methyltransferase | SET domain | SET domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B8JIA4
|
1461 |
Interactions and Pathways
No data available
Plasmids
No data available