Aliases: C20orf19, HT013, Kizuna, NCRNA00153, PLK1S1, RP69
Chromosome No: 20
Chromosome Band: 20p11.23
Genetic Category: Genetic association-Functional
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 4
Evidence score: null
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Relevance to Autism
An intronic SNP in the KIZ gene (rs6047270) was found to be significantly associated with ASD (P-value 8.0E-08) in a genome-wide association meta-analysis of 18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC) in Grove et al., 2019. A transcriptome-wide association study (TWAS) of 7,805 ASD proband-parent trios, which was subsequently replicated using 35,740 independent samples, using eQTL and splicing quantitative trait loci in 12 brain tissues from GTEx and the CommonMind Consortium (CMC) in Huang et al., 2021 identified KIZ as a gene whose transcriptome-wide association with ASD remained significant after a stringent Bonferroni correction for all genes and all tissues in the analysis (meta-analysis P-value 1.88E-07 in CMC DLPFC tissue).
Molecular Function
The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication.
External Links
