EPS15L1
Homo sapiens
Gene Name: epidermal growth factor receptor pathway substrate 15 like 1
Aliases: EPS15R
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Rare single gene variant
Aliases: EPS15R
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
EPS15L1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families.
Molecular Function
Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
