PHF2 Chromosome 9
PHD finger protein 2
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What This Gene Does
This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Lysine demethylases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q22.31
Ensembl
ENSG00000197724
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2490108901 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Autism spectrum disorder |
| RS1826897308 | Health Risk | Likely pathogenic | — |