Aliases: NKX2.2, NKX2B
Chromosome No: 20
Chromosome Band: 20p11.22
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 intergenic SNP adjacent to the NKX2-2 gene (rs910805) reached genome-wide significance (P-value 2.04E-09) 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 NKX2-2 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 1.49E-10 in GTEx nucleus accumbens basal ganglia tissue).
Molecular Function
The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor.
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