Gene
esco2
- ID
- ZDB-GENE-050913-156
- Name
- establishment of sister chromatid cohesion N-acetyltransferase 2
- Symbol
- esco2 Nomenclature History
- Previous Names
-
- loc157570
- si:dkey-217m5.6
- un-named hi2865
- unm hi2865
- zgc:111795 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have acetyltransferase activity. Involved in several processes, including positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; sister chromatid cohesion; and tissue regeneration. Predicted to localize to chromatin. Used to study Roberts syndrome. Human ortholog(s) of this gene implicated in Roberts syndrome and SC phocomelia syndrome. Is expressed in digestive system; heart; nervous system; otic vesicle; and pectoral fin. Orthologous to human ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:111795 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Roberts syndrome | Alliance | Roberts-SC phocomelia syndrome | 268300 |
Juberg-Hayward syndrome | 216100 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Roberts syndrome | esco2hi2865Tg/hi2865Tg | standard conditions | Xu et al., 2013 |
Roberts syndrome | WT + MO1-esco2 | standard conditions | (2) |
Roberts syndrome | esco2hi2865Tg/hi2865Tg | standard conditions | Percival et al., 2015 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | N-acetyltransferase ESCO, acetyl-transferase domain | N-acetyltransferase ESCO, zinc-finger |
---|---|---|---|
UniProtKB:Q5SPR8
|
609 | ||
UniProtKB:A0A8M2B7P6
|
608 |
Interactions and Pathways
No data available
Plasmids
No data available