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 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 embryonic camera-type eye morphogenesis; nervous system development; and sensory epithelium regeneration. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including hypoblast; immature eye; nervous system; neural keel; and neural rod. 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
- 86 figures from 56 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