Aliases: BA209D8.1, BTHLM2L, DJ234P15.1, EDSMYP, UCMD2,COL12A1
Chromosome No: 6
Chromosome Band: 6q13-q14.1
Genetic Category: Rare single gene variant
ASD Reports: 9
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 7
Evidence score: 3
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Relevance to Autism
A de novo loss-of-function variant in the COL12A1 gene was identified in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classifed as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. An additional de novo loss-of-function variant and four de novo missense variants in COL12A1 were reported in ASD probands from the SSC and SPARK cohorts, while an additional de novo missense variant in this gene was reported in an ASC proband (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022; Trost et al., 2022). Inherited loss-of-function and missense variants in COL12A1 have also been identified in ASD probands (Ruzzo et al., 2019; Tuncay et al., 2023; Cirnigliaro et al., 2023).
Molecular Function
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.
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