SOX5

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

SOX5

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.

Biological Process asymmetric neuroblast divisionManual Assertion Based On ExperimentIGI:UniProtKB
Biological Process cartilage condensationISS:UniProtKB
Biological Process cartilage developmentISS:UniProtKB
Biological Process cell fate commitmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to transforming growth factor beta stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process chondrocyte differentiationISS:UniProtKB
Biological Process positive regulation of cartilage developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of chondrocyte differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of mesenchymal stem cell differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:ProtInc

Nucleus

Lamb-Shaffer syndrome (LAMSHF):
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.