PHF2
Homo sapiens
Gene Name: PHD finger protein 2
Aliases: CENP-35, GRC5, JHDM1E
Chromosome No: 9
Chromosome Band: 9q22.31
Genetic Category: Rare single gene variant-
Aliases: CENP-35, GRC5, JHDM1E
Chromosome No: 9
Chromosome Band: 9q22.31
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 8
Recent Reports: 2
Annotated variants: 9
Associated CNVs: 4
Evidence score: 3
ASD Reports: 8
Recent Reports: 2
Annotated variants: 9
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
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
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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.3264del
p.His1089IlefsTer71
De novo
Simplex
GEN651R006a
frameshift_variant
c.2963_2964insT
p.Ala989GlyfsTer27
Familial
Simplex
GEN651R006b
frameshift_variant
c.2964_2965insCCTCCACCACACCA
p.Ala989ProfsTer103
Familial
Simplex
Common
No Common Variants Available
