Aliases: OCTM4
Chromosome No: 3
Chromosome Band: 3q29
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
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Relevance to Autism
A de novo splice-site variant and an inherited damaging missense variant in the TM4SF19 gene were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2012; Krumm et al., 2015). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified TM4SF19 as an ASD candidate gene with a PTADA of 0.007613.
Molecular Function
The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum.
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