EPC2
Homo sapiens
Gene Name: Enhancer of polycomb homolog 2 (Drosophila)
Aliases: DKFZp566F2124, EPC-LIKE
Chromosome No: 2
Chromosome Band: 2q23.1
Genetic Category: Rare single gene variant-
Aliases: DKFZp566F2124, EPC-LIKE
Chromosome No: 2
Chromosome Band: 2q23.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 13
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
EPC2 is frequently deleted along with MBD5 in cases with 2q23.1 microdeletion syndrome. While MBD5 is generally thought to be the casual locus of the syndrome, EPC2 may be responsible in part for the broader phentoype observed in patients with larger 2q23.1 deletions compared to those patients with a deletion of MBD5 only.
Molecular Function
EPC2 belongs to the enhancer of polycomb family and may play a role in transcription or DNA repair.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
ID, epilepsy
Autistic behavior
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
DD, epilepsy
Support
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
ID
Highly Cited
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
