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 enable ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 38 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