Gene
grhl2b
- ID
- ZDB-GENE-060503-719
- Name
- grainyhead-like transcription factor 2b
- Symbol
- grhl2b Nomenclature History
- Previous Names
-
- grhl2
- si:dkey-21k18.2
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Exhibits transcription regulatory region DNA binding activity. Involved in apoptotic process involved in morphogenesis; inner ear development; and midbrain-hindbrain boundary morphogenesis. Predicted to localize to nucleus. Used to study autosomal dominant nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy. Is expressed in several structures, including anterior axial hypoblast; midbrain hindbrain boundary neural rod; neurogenic placode; optic vesicle; and posterior lateral line system. Orthologous to human GRHL2 (grainyhead like transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
autosomal dominant nonsyndromic deafness | grhl2btsu086Gt/tsu086Gt (AB) | standard conditions | Han et al., 2011 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | CP2 transcription factor | Transcription factor CP2-like |
---|---|---|---|
UniProtKB:F7VJQ5
|
601 | ||
UniProtKB:A0A2R8QAV0
|
554 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
grhl2b-201
(1)
|
Ensembl | 3,699 nt | ||
mRNA |
grhl2b-202
(1)
|
Ensembl | 1,786 nt |
Interactions and Pathways
No data available
Plasmids
No data available