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FB2026_01
,
released March 12, 2026
The human MAP kinase kinase gene TAOK2 has been potentially implicated in a number of hereditary neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. The fly gene Tao is orthologous to TAOK2; in addition, it is orthologous to human TAOK1, which has also been implicated in a neurodevelopmental disorder, and human TAOK3. For information on general Tao fly models of TAOK-related neurodevelopmental disorders, see FBhh0001113.
Multiple UAS constructs of the human Hsap\TAOK2 gene have been introduced into flies, including wild-type and variants implicated in autism spectrum disorder (ASD). Heterologous rescue (functional complementation) has been demonstrated for the abnormal dendritic branching, dynamic microtubule alterations, and behavioral defect phenotypes of Tao mutant animals. Variants implicated in this human disease have been assessed using transgenic constructs of the human gene; see the 'Disease-Implicated Variants' table below.
The TAOK2:p.Pro1022Ter variant falls into a terminal exon found in a subset of the multiple TAOK2 isoforms. Several of the ASD-linked TAOK2 variants exhibit impaired rescue activity.
TAOK2 is located within the chromosome16p11.2 deletion; this deletion has been associated with a range of neurodevelopmental disorders, including autism, intellectual disability, and schizophrenia. Genetic interactions of genes within the chromosome 16p11.2 deletion have been studied using the orthologous genes in flies (see FBhh0001068).
TAOK2 is one of a number of genes in human that have been implicated in both autism spectrum disorder and schizophrenia. See the human disease model report 'autism co-occurence with schizophrenia' (FBhh0001356).
[updated Jul. 2021 by FlyBase; FBrf0222196]
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996, pubmed:8655659; Risch et al., 1999, pubmed:10417292). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (MIM:608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008; pubmed:18698615). [from MIM:209850; 2017.03.18]
The SFARI Gene autism database ( https:gene.sfari.org ) rates the gene-autism association for TAOK2 as strong candidate (score 2). [2020.11.05]
TAOK2 is associated with schizophrenia in multiple GWAS studies (see GWAS Catalog, below in 'External links').
Loss-of-function variants of TAOK2 are postulated to be implicated in autism spectrum disorder (Richter et al., 2018; pubmed:29467497).
TAOK2 is located in the autism spectrum disorder (ASD) and schizophrenia-associated 16p11.2 chromosomal deletion region (Richter et al., 2018; pubmed:29467497).
TAOK2 encodes a serine/threonine protein kinase that is involved in many different processes including cell signaling, microtubule organization and stability, DNA damage response, and apoptosis; it is a regulator of the MAPK14/p38 MAPK stress-activated MAPK cascade. [Gene Cards, TAOK2; 2020.07.13]
Many to one: 3 human genes to 1 Drosophila gene.
Moderate- to high-scoring ortholog of human TAOK1, TAOK3, and TAOK2. Dmel\Tao shares 47-49% identity and 60-64% similarity with the human genes.