Gene
sox11a
- ID
- ZDB-GENE-980526-395
- Name
- SRY-box transcription factor 11a
- Symbol
- sox11a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in brain development; camera-type eye development; and negative regulation of smoothened signaling pathway. Predicted to localize to nuclear transcription factor complex. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 27. Is expressed in several structures, including mesoderm; nervous system; neural keel; neural rod; and somite. Orthologous to human SOX11 (SRY-box transcription factor 11).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 35 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb237 (25 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Coffin-Siris syndrome 9 | Alliance | Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 615866 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Coffin-Siris syndrome | sox11aihb607/ihb607 (AB) | standard conditions | Jia et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High mobility group box domain | High mobility group box domain superfamily | Transcription factor SOX-12/11/4 |
|---|---|---|---|---|
|
UniProtKB:Q9I9C8
|
354 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sox11a-201
(1)
|
Ensembl | 3,298 nt |
Interactions and Pathways
No data available
Plasmids
No data available