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 have DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in brain development and regulation of transcription by RNA polymerase II. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy. Is expressed in olfactory placode; otic placode; otic vesicle; pronephric duct; and pronephros. 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