Aliases: ERBB2IP, HEL-S-78, LAP2
Chromosome No: 5
Chromosome Band: 5q12.3
Genetic Category: Rare single gene variant--Rare single gene variant/Functional
ASD Reports: 9
Recent Reports: 2
Annotated variants: 6
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
This gene, formerly known as ERBB2IP, was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module. Sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014). This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family that binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction.
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