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 enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within brain development and optic nerve morphogenesis. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including anterior neural keel; central nervous system; eye; neural plate; and optic vesicle. Human ortholog(s) of this gene implicated in holoprosencephaly and holoprosencephaly 2. 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 | Additional Resources | Length | Homedomain-like superfamily | Homeobox protein SIX1, N-terminal SD domain | Homeodomain |
|---|---|---|---|---|---|
| UniProtKB:O73708 | InterPro | 294 |
Interactions and Pathways
No data available
Plasmids
No data available