protein
Zinc finger protein 462
Gene
ZNF462
Organism
Homo sapiens(9606)
Length
2506 aa
Mass
284,688 Da
Zinc finger protein 462 (ZNF462) is a nuclear transcription factor that regulates chromatin structure and organization (UniProt: Q96JM2). The protein plays roles in embryonic stem cell pluripotency and differentiation by regulating SOX2, POU5F1/OCT4, and NANOG expression. ZNF462 also modulates neuronal development and neural cell differentiation through transcriptional control mechanisms.
ZNF462 is associated with Weiss-Kruszka syndrome (WSKA), an autosomal dominant multiple congenital anomaly disorder characterized by developmental delay, hypotonia, feeding difficulties, and distinctive craniofacial features including ptosis, abnormal head shape, and craniosynostosis (UniProt: Q96JM2). Some affected individuals present with congenital heart defects or agenesis of the corpus callosum.
ZNF462 carries SFARI classification tags indicating syndromic autism association (SFARI Cat 2). The developmental and neuronal roles of this protein, combined with the neurodevelopmental features observed in Weiss-Kruszka syndrome patients, suggest potential relevance to autism spectrum disorder, particularly in syndromic forms.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965)
Disease associations
Weiss-Kruszka syndromeWSKA
An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging.
Sources
Last updated 5/6/2026, 5:23:39 AM