Gene
hecw2a
- ID
- ZDB-GENE-090311-22
- Name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2a
- Symbol
- hecw2a Nomenclature History
- Previous Names
-
- hecw2
- nedl2a (1)
- si:dkey-191g15.6
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within brain development. 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
- 2 figures from Lu et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000008 | C2 domain |
| Domain | IPR000569 | HECT domain |
| Domain | IPR001202 | WW domain |
| Domain | IPR032348 | E3 ubiquitin-protein ligase HECW1/2, N-terminal |
| Domain | IPR037795 | E3 ubiquitin-protein ligase HECW, C2 domain |
| Domain | IPR040524 | E3 ubiquitin-protein ligase HECW1, helical box domain |
| Family | IPR050409 | E3 ubiquitin-protein ligase |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
| Homologous_superfamily | IPR035983 | HECT, E3 ligase catalytic domain |
| Homologous_superfamily | IPR036020 | WW domain superfamily |
Domain Details Per Protein
| Protein | 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:A0A8M3AW15
|
1475 | ||||||||||
|
UniProtKB:A0A8M3B5N0
|
1466 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hecw2a-201
(1)
|
Ensembl | 4,236 nt | ||
| mRNA |
hecw2a-202
(1)
|
Ensembl | 9,786 nt | ||
| mRNA |
hecw2a-203
(1)
|
Ensembl | 9,885 nt |
Interactions and Pathways
No data available
Plasmids
No data available