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
- Involved in several processes, including body morphogenesis; smoothened signaling pathway; and spindle organization. Predicted to localize to centriole and centrosome. Used to study microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 7. Is expressed in several structures, including gut; heart; nervous system; optic cup; and pronephros. 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