Aliases: BPM-L, BPM90, RANBPM, RanBP7
Chromosome No: 6
Chromosome Band: 6p23
Genetic Category: Functional-Rare single gene variant
ASD Reports: 7
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 9
Evidence score: 3
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Relevance to Autism
Whole-exome sequencing of 115 ASD trios from three countries with a high frequency of consanguineous populations (Pakistan, Iran, and Saudi Arabia) in Harripaul et al., 2026 identified a homozygous missense variant in the RANBP9 gene (NM_005493.3:c.1735G>C;p.Gly579Arg) in a female ASD proband from Pakistan. De novo variants in this gene, including a de novo loss-of-function variant, have been previously identified in ASD probands from the Simons Simplex Collection, the SPARK cohort, the Autism Sequencing Consortium, and a Japanese ASD cohort (Iossifov et al., 2014; Lim et al., 2017; Takata et al., 2018; Zhou et al., 2022; Fu et al., 2022). RANBP9 has been shown to interact with the ASD candidate gene MET and enhance HGF-MET signaling by recruiting Sos and activating the Ras pathway (Wang et al., 2022).
Molecular Function
his gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11.
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