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Relevance to Autism

Two de novo loss-of-function variants in the PHF2 gene have been identified in ASD probands from the Simons Simplex Collection (refs).

Molecular Function

Lysine demethylase that demethylates both histones and non-histone proteins. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Recent recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent recommendation
The contribution of de novo coding mutations to autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN651R001 
 frameshift_variant 
 c.3263delT 
 p.Ile1088fs 
 De novo 
  
 Simplex 
 GEN651R002 
 stop_gained 
 c.2749C>T 
 p.Gln917Ter 
 De novo 
  
 Simplex 
 GEN651R003 
 missense_variant 
 c.860C>T 
 p.Ala287Val 
 Familial 
 Maternal 
  
 GEN651R004 
 splice_site_variant 
 c.3203-2A>G 
 p.? 
 Unknown 
 Not maternal 
  
 GEN651R005 
 missense_variant 
 c.860C>T 
 p.Ala287Val 
 Unknown 
  
  

Common

No Common Variants Available



No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
HIST2H3C histone cluster 2, H3c 126961 Q71DI3 ChIP; IP/WB; in vitro methylation assay
Li J , et al. 2012
HIST3H3 histone cluster 3, H3 8290 Q16695 GST; qRT-PCR; IP/WB
Varier RA , et al. 2010
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010

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