Gene
grhl2a
- ID
- ZDB-GENE-050913-123
- Name
- grainyhead-like transcription factor 2a
- Symbol
- grhl2a Nomenclature History
- Previous Names
-
- zgc:110324
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in brain development; neural tube development; and regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in neurogenic placode; otic vesicle; pronephros; and telencephalon. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy 4. Orthologous to human GRHL2 (grainyhead like transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Dworkin et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 28 | Alliance | Deafness, autosomal dominant 28 | 608641 |
| posterior polymorphous corneal dystrophy 4 | Alliance | Corneal dystrophy, posterior polymorphous, 4 | 618031 |
| Ectodermal dysplasia/short stature syndrome | 616029 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CP2 transcription factor | Transcription factor CP2-like |
|---|---|---|---|
|
UniProtKB:F8W5L7
|
593 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
grhl2a-201
(1)
|
Ensembl | 2,181 nt |
Interactions and Pathways
No data available
Plasmids
No data available