Gene data
PHF8- Name
- PHD finger protein 8
- Type
- protein-coding
- Chromosome
- X
- Position
- 53,934,245–54,048,958 (−)
- Aliases
- JHDM1F, KDM7B, MRXSSD, ZNF422
- Ensembl
- ENSG00000172943
- RefSeq RNA
- NM_001184896.1, NM_001184897.2, NM_001184898.2, NM_001441096.1, NM_001441097.1
- RefSeq protein
- NP_001171825.1, NP_001171826.1, NP_001171827.1, NP_001428025.1, NP_001428026.1
The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
PHD finger protein 8
- Symbol
- PHF8
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:53,934,245-54,048,958
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein PHF8 PDB 2WWU.png
Show 8 more facts
- HomoloGene ID
- 49405
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/23133
- Commons category
- PHD finger protein 8
- chromosome
- human X chromosome
- genomic start
- 53963109
- genomic end
- 54075391
- cytogenetic location
- Xp11.22
Sources (8)
via Wikidata · CC0