Aliases: HSPC114, BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1
Chromosome No: 1
Chromosome Band: 1q21.1
Genetic Category: Multigenic CNV-Functional-Rare single gene variant-
ASD Reports: 6
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
CNVs involving RBM8A were statistically enriched in a cohort of 57.356 patients with neurodevelopmental disorders compared to a cohort of 20,474 controls (deletions, P=0.000655; duplications, P=0.000001). An inherited 440 kb duplication encompassing the RBM8A gene was identified in a male patient from the DECIPHER database (258316) with autism, intellectual disability/developmental delay, and speech delay (Nguyen et al., 2013). Lentiviral-mediated overexpression of RBM8A in the mouse dentate gyrus (DG) led to increased anxiety-like behavior, abnormal social interaction and decreased immobile time in forced swimming test (FST) (Alachkar et al., 2013).
Molecular Function
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events.
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