Gene
stil
- ID
- ZDB-GENE-020419-39
- Name
- STIL centriolar assembly protein
- Symbol
- stil Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including body morphogenesis; neuron cellular homeostasis; and spindle organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in centriole and centrosome. Is expressed in several structures, including gut; heart; nervous system; optic cup; and pronephros. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 7. Orthologous to human STIL (STIL centriolar assembly protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 7 | Alliance | Microcephaly 7, primary, autosomal recessive | 612703 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| microcephaly | WT + MO4-stil | standard conditions | Novorol et al., 2013 |
| microcephaly | stilhi1262Tg/hi1262Tg | standard conditions | Novorol et al., 2013 |
| microcephaly | stilcz65/cz65 | standard conditions | Novorol et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR026123 | SCL-interrupting locus protein |
Domain Details Per Protein
| Protein | Length | SCL-interrupting locus protein |
|---|---|---|
|
UniProtKB:A0A8M6Z3C1
|
1016 | |
|
UniProtKB:Q8JGS1
|
1263 |
Interactions and Pathways
No data available
Plasmids
No data available