SOX6
SRY-Box Transcription Factor 6: A Key Regulator of Chondrogenesis, Cardiac Development, and Neurogenesis
Gene Information Card
| Symbol | SOX6 |
|---|---|
| Full Name | SRY-box transcription factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.3 |
| NCBI Gene ID | 55553 ncbi.nlm.nih.gov/gene/55553 |
| Ensembl ID | ENSG00000110619 |
| UniProt ID | P35712 |
| OMIM ID | 607257 |
| HGNC ID | 11191 |
| Aliases | SOX6, SRY (sex determining region Y)-box 6, L-SOX6, SOXD |
Description
SOX6 encodes a member of the SOX (SRY-related HMG-box) family of transcription factors. This protein plays a critical role in multiple developmental processes, including chondrogenesis (cartilage formation), cardiac development, and neurogenesis. It acts as a transcriptional activator or repressor depending on the cellular context and interacts with other SOX proteins (e.g., SOX5, SOX9) to regulate target gene expression. SOX6 is essential for proper skeletal development and has been implicated in several human diseases, including skeletal dysplasias and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia (e.g., spondyloepimetaphyseal dysplasia) | Loss-of-function mutations in SOX6 disrupt chondrocyte differentiation and cartilage matrix production, leading to abnormal skeletal development. | ClinVar; PMID: 25741868 |
| Cardiac defects (e.g., ventricular septal defect) | SOX6 deficiency impairs cardiac neural crest cell migration and heart septation, contributing to congenital heart disease. | OMIM; PMID: 23034409 |
| Neurodevelopmental disorders (e.g., intellectual disability) | SOX6 haploinsufficiency affects neuronal migration and differentiation, leading to cognitive impairment. | ClinVar; PMID: 28135719 |
| Cancer (e.g., hepatocellular carcinoma, glioma) | SOX6 acts as a tumor suppressor in some cancers; downregulation promotes cell proliferation and metastasis via altered Wnt/β-catenin signaling. | COSMIC; PMID: 29281825 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 8.3 | Medium |
| Brain (cerebellum) | 6.1 | Medium |
| Lung | 2.4 | Low |
| Liver | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 3.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.8 | Low expression |
| SH-SY5Y (neuroblastoma) | 5.7 | Moderate expression |
| MCF7 (breast carcinoma) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; premature truncation of protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely loss of function; disrupts HMG-box DNA binding |
| c.789_790del (p.Gln264fs) | Frameshift | Rare | Loss of function; frameshift leading to premature stop |
| c.1567A>G (p.Ile523Val) | Missense | Unknown | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt the HMG-box domain or lead to premature termination result in loss of transcriptional activity, impairing chondrogenesis and neurogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SOX6.
Dominant Negative (DN)
Some missense mutations in the HMG-box may produce a dominant-negative effect by interfering with wild-type SOX6 binding to DNA or partner proteins, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chondrocyte differentiation (SOX5/SOX6/SOX9 pathway)
• Cardiac neural crest development
• Wnt/β-catenin signaling (SOX6 as a repressor)
• Neuronal migration and differentiation
Protein Summary
SOX6 is a 469-amino-acid transcription factor containing a conserved HMG-box DNA-binding domain. It forms complexes with SOX5 and SOX9 to regulate chondrocyte-specific genes such as COL2A1 and ACAN. In the heart, SOX6 is required for proper septation and outflow tract development. In the nervous system, it controls neuronal migration and differentiation. SOX6 also modulates Wnt signaling by repressing β-catenin activity. Loss of SOX6 function leads to skeletal dysplasias, cardiac defects, and neurodevelopmental disorders, while its downregulation in cancer suggests a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX6 Knockout HEK293 Cell Line | EDJ-KQ1033 | Human | 55553 | Details Get a Quote |
| SOX6 Knockout HeLa Cell Line | EDJ-KQ56599 | Human | 55553 | Details Get a Quote |
| SOX6 Knockout A-549 Cell Line | EDJ-KQ65099 | Human | 55553 | Details Get a Quote |
| SOX6 Knockout HCT 116 Cell Line | EDJ-KQ73545 | Human | 55553 | Details Get a Quote |
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