Aliases: HBP, PRO2900, VGL
Chromosome No: 2
Chromosome Band: 2q37.3
Genetic Category: Multigenic CNV-Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 6
Evidence score: 3
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Relevance to Autism
De novo missense variants that were predicted in silico to be damaging were observed in the HDLBP gene in an ASD proband from the Simons Simplex Collection (O'Roak et al., 2012) and an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified HDLBP as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05). This gene resides within the 2q37.3 microdeletion syndrome locus, and it was previously demonstrated in Felder et al., 2009 that HDLBP expression was downregulated in lymphoblastoid cell lines from a patient with a 3.5 Mb de novo 2q37.3 deletion who presented with autism.
Molecular Function
The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation.
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