Gene
herc2
- ID
- ZDB-GENE-070718-6
- Name
- HECT and RLD domain containing E3 ubiquitin protein ligase 2
- Symbol
- herc2 Nomenclature History
- Previous Names
-
- fd13h10
- wu:fd13h10 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have ubiquitin-protein transferase activity and zinc ion binding activity. Predicted to be involved in protein ubiquitination. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and pigmentation disease. Orthologous to human HERC2 (HECT and RLD 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 38 | Alliance | Intellectual developmental disorder, autosomal recessive 38 | 615516 |
| [Skin/hair/eye pigmentation 1, blond/brown hair] | 227220 | ||
| [Skin/hair/eye pigmentation 1, blue/nonblue eyes] | 227220 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000433 | Zinc finger, ZZ-type |
| Domain | IPR000569 | HECT domain |
| Domain | IPR001199 | Cytochrome b5-like heme/steroid binding domain |
| Domain | IPR004939 | APC10/DOC domain |
| Domain | IPR010606 | Mib-herc2 |
| Domain | IPR021097 | CPH domain |
| Domain | IPR037976 | HERC2, APC10 domain |
| Domain | IPR041987 | HERC2, zinc finger, ZZ-type |
| Family | IPR051210 | Ubiquitin ligases and GEF domain-containing protein |
| Homologous_superfamily | IPR008979 | Galactose-binding-like domain superfamily |
| Homologous_superfamily | IPR009060 | UBA-like superfamily |
| Homologous_superfamily | IPR009091 | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II |
| Homologous_superfamily | IPR014722 | Large ribosomal subunit protein uL2, domain 2 |
| Homologous_superfamily | IPR035983 | HECT, E3 ligase catalytic domain |
| Homologous_superfamily | IPR036400 | Cytochrome b5-like heme/steroid binding domain superfamily |
| Homologous_superfamily | IPR037252 | Mib/herc2 domain superfamily |
| Homologous_superfamily | IPR043145 | Zinc finger, ZZ-type superfamily |
| Repeat | IPR000408 | Regulator of chromosome condensation, RCC1 |
| Repeat | IPR006624 | Beta-propeller repeat TECPR |
Domain Details Per Protein
| Protein | Length | APC10/DOC domain | Beta-propeller repeat TECPR | CPH domain | Cytochrome b5-like heme/steroid binding domain | Cytochrome b5-like heme/steroid binding domain superfamily | Galactose-binding-like domain superfamily | HECT domain | HECT, E3 ligase catalytic domain | HERC2, APC10 domain | HERC2, zinc finger, ZZ-type | Large ribosomal subunit protein uL2, domain 2 | Mib-herc2 | Mib/herc2 domain superfamily | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II | Regulator of chromosome condensation, RCC1 | UBA-like superfamily | Ubiquitin ligases and GEF domain-containing protein | Zinc finger, ZZ-type | Zinc finger, ZZ-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PKG1
|
2010 | |||||||||||||||||||
|
UniProtKB:A0A8M9QG78
|
4831 | |||||||||||||||||||
|
UniProtKB:A0A8M9PRI1
|
2009 | |||||||||||||||||||
|
UniProtKB:A0A8M9QB68
|
4830 |
Interactions and Pathways
No data available
Plasmids
No data available