Gene
six3b
- ID
- ZDB-GENE-990415-128
- Name
- SIX homeobox 3b
- Symbol
- six3b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 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 embryonic camera-type eye morphogenesis; nervous system development; and sensory epithelium regeneration. 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 ectoderm; hypoblast; immature eye; nervous system; and neural keel. Orthologous to human SIX3 (SIX homeobox 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 83 figures from 55 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb347 (18 images)
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:O73709
|
293 |
Interactions and Pathways
No data available
Plasmids
No data available