Gene
phf8
- ID
- ZDB-GENE-060419-1
- Name
- PHD finger protein 8
- Symbol
- phf8 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have chromatin binding activity; histone demethylase activity; and methylated histone binding activity. Involved in several processes, including embryonic organ development; positive regulation of transcription, DNA-templated; and regulation of neuron apoptotic process. Predicted to localize to nucleolus. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Siderius type. Is expressed in head; mandibular arch skeleton; and tail bud. Orthologous to human PHF8 (PHD finger protein 8).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 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 |
---|---|---|---|
syndromic X-linked intellectual disability Siderius type | Alliance | Intellectual developmental disorder, X-linked syndromic, Siderius type | 300263 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019786 | Zinc finger, PHD-type, conserved site |
Domain | IPR001965 | Zinc finger, PHD-type |
Domain | IPR003347 | JmjC domain |
Domain | IPR019787 | Zinc finger, PHD-finger |
Domain | IPR041070 | Jumonji, helical domain |
Family | IPR050690 | JHDM1 Histone Demethylase |
Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
Domain Details Per Protein
Protein | Length | JHDM1 Histone Demethylase | JmjC domain | Jumonji, helical domain | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site |
---|---|---|---|---|---|---|---|---|
UniProtKB:P0CH95
|
Interactions and Pathways
No data available
Plasmids
No data available