PHF8
Sign in to saveAlso known as JHDM1F, MRXSSD, ZNF422, PHD finger protein 8, KDM7B
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.
In the Vinony graph
Vinony's link graph records 890 inbound references to PHF8, and connects out to cleft lip and cleft palate, PubMed and Online Mendelian Inheritance in Man.
It sits within the topics EC 1.14.11, Genes on human chromosome X and Human 2OG oxygenases.
Vinony links it to 4 Wikipedia language editions.
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
~2 min read
Encyclopedic overview
5 sectionsContents
- Function
- Regulation during differentiation
- Clinical significance
- References
- External links
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.
== Function ==
Excerpted from Wikipedia’s “PHF8” article, available under the CC BY-SA 4.0 licence.