Gene
six3a
- ID
- ZDB-GENE-990415-127
- Name
- SIX homeobox 3a
- Symbol
- six3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and transcription regulatory region sequence-specific DNA binding activity. Involved in brain development and optic nerve morphogenesis. Predicted to localize to nucleus and transcription factor complex. Human ortholog(s) of this gene implicated in holoprosencephaly and holoprosencephaly 2. Is expressed in several structures, including anterior neural keel; nervous system; neural plate; optic vesicle; and presumptive telencephalon. Orthologous to human SIX3 (SIX homeobox 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 46 figures from 41 publications
- 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| holoprosencephaly 2 | Alliance | Holoprosencephaly 2 | 157170 |
| Schizencephaly | 269160 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox protein SIX1, N-terminal SD domain | Homeodomain |
|---|---|---|---|---|
|
UniProtKB:O73708
|
294 |
Interactions and Pathways
No data available
Plasmids
No data available