protein
Transcription factor SOX-5
Gene
SOX5
Organism
Homo sapiens(9606)
Length
763 aa
Mass
84,026 Da
SOX5 is a transcription factor that binds the DNA motif 5'-AACAAT-3' in enhancers and super-enhancers to regulate gene expression (UniProt: P35711). Its primary characterized function involves chondrocyte differentiation and cartilage formation, where it cooperatively acts with SOX6 and SOX9 to promote expression of cartilage matrix genes including COL2A1 and AGC1. SOX5 also regulates chondroblast proliferation, columnar organization, and chondrocyte maturation during skeletal development.
Beyond its role in chondrogenesis, SOX5 binds the promoter region of the myelin protein MPZ gene, suggesting broader developmental functions. The protein is 763 amino acids in length with a molecular mass of approximately 84 kDa.
SOX5 is classified as a syndromic autism-associated gene (SFARI Cat S). It is implicated in Lamb-Shaffer syndrome (LAMSHF, MIM 616803), an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinctive facial features, with variable skeletal abnormalities also documented in affected individuals (UniProt: P35711).
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
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
Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhancers associated with cartilage-specific genes, and thereby potentiate SOX9's ability to transactivate. Not involved in precartilaginous condensation, the first step in chondrogenesis, during which skeletal progenitors differentiate into prechondrocytes. Together with SOX6, required to form and maintain a pool of highly proliferating chondroblasts between epiphyses and metaphyses, to form columnar chondroblasts, delay chondrocyte prehypertrophy but promote hypertrophy, and to delay terminal differentiation of chondrocytes on contact with ossification fronts. Binds to the proximal promoter region of the myelin protein MPZ gene
Disease associations
Lamb-Shaffer syndromeLAMSHF
An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.
Sources
Last updated 5/6/2026, 5:24:21 AM