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 located in centriole and nucleus. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa10421 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13507 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13593 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13641 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15868 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20751 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa20752 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa20753 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30874 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33904 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | Diverse Signaling and Regulatory Domain-Containing Protein | 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 | Zinc finger, ZZ-type | Zinc finger, ZZ-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PKG1 | InterPro | 2010 | |||||||||||||||||||
| UniProtKB:A0A8M9QG78 | InterPro | 4831 | |||||||||||||||||||
| UniProtKB:A0A8M9PRI1 | InterPro | 2009 | |||||||||||||||||||
| UniProtKB:A0A8M9QB68 | InterPro | 4830 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-125I12 | ZFIN Curated Data | |
| Encodes | EST | fd13h10 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021477196 (1) | 15344 nt | ||
| Genomic | GenBank:LO018116 (1) | 134385 nt | ||
| Polypeptide | UniProtKB:A0A8M9QG78 (1) | 4831 aa |
- Jia, H., Wu, R., Yang, H., Luo, K.Q. (2025) FRET-Based Sensor Zebrafish Reveal Muscle Cells Do Not Undergo Apoptosis in Starvation or Natural Aging-Induced Muscle Atrophy. Advanced science (Weinheim, Baden-Wurttemberg, Germany). :e2416811e2416811
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Rapkins, R.W., Hore, T., Smithwick, M., Ager, E., Pask, A.J., Renfree, M.B., Kohn, M., Hameister, H., Nicholls, R.D., Deakin, J.E., and Graves, J.A. (2006) Recent assembly of an imprinted domain from non-imprinted components. PLoS Genetics. 2(10):e182
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