Gene
irf2bpl
- ID
- ZDB-GENE-040426-1968
- Name
- interferon regulatory factor 2 binding protein-like
- Symbol
- irf2bpl Nomenclature History
- Previous Names
-
- wu:fc39d10
- wu:fj46f11
- zgc:73290
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable transcription corepressor activity. Acts upstream of or within negative regulation of Wnt signaling pathway; regulation of action potential firing pattern; and swimming behavior. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. Orthologous to human IRF2BPL (interferon regulatory factor 2 binding protein like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Marcogliese et al., 2022
- 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 |
|---|---|---|---|
| neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Alliance | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 618088 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Interferon regulatory factor 2-binding protein 1/2, C3HC4-type RING finger superfamily | Interferon regulatory factor 2-binding protein 1 & 2, zinc finger |
|---|---|---|---|
|
UniProtKB:Q6P947
|
662 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
irf2bpl-201
(1)
|
Ensembl | 2,796 nt |
Interactions and Pathways
No data available
Plasmids