protein
DNA-binding protein SATB2
Gene
SATB2
Organism
Homo sapiens(9606)
Length
733 aa
Mass
82,555 Da
SATB2 is a DNA-binding protein that functions as a transcription factor controlling nuclear gene expression (UniProt: Q9UPW6). It recognizes matrix attachment regions (MARs) in double-stranded DNA and induces local chromatin remodeling by recruiting chromatin-remodeling enzymes, corepressors, and coactivators to promoters and enhancers.
SATB2 plays a critical role in cerebral cortex development, required for initiating upper-layer neuron-specific genetic programs while suppressing deep-layer neuron genes, likely through modulation of BCL11B expression. The protein also functions in palate formation and skeletal development. Mutations in SATB2 are associated with cleft palate and related craniofacial features, with some patients exhibiting intellectual disability and osteoporosis.
SATB2 is classified as a SFARI Category 1 syndromic autism gene (SFARI Cat 1), indicating strong evidence for association with autism, typically in the context of broader developmental or genetic syndromes rather than non-syndromic autism alone.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
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
Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation
Disease associations
Cleft palate isolatedCPI
A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis.
Sources
Last updated 5/6/2026, 5:25:22 AM