SOX8 Gene
SRY-Box Transcription Factor 8
Gene Information Card
| Symbol | SOX8 |
|---|---|
| Full Name | SRY-Box Transcription Factor 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 30812 ncbi.nlm.nih.gov/gene/30812 |
| Ensembl ID | ENSG00000164815 |
| UniProt ID | P57073 |
| OMIM ID | 605923 |
| HGNC ID | 11201 |
| Aliases | SOX8, SRY-box 8, transcription factor SOX-8 |
Description
SOX8 (SRY-Box Transcription Factor 8) is a protein-coding gene that belongs to the SOX (SRY-related HMG-box) family of transcription factors. It plays a critical role in embryonic development, particularly in the formation of the nervous system, testis development, and chondrogenesis. SOX8 functions as a transcriptional activator or repressor by binding to DNA via its high-mobility group (HMG) domain. It is involved in cell fate determination, differentiation, and maintenance of stem cell properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Campomelic dysplasia with autosomal sex reversal | SOX8 haploinsufficiency or loss-of-function mutations impair testis development and skeletal formation, leading to campomelic dysplasia and XY sex reversal. | ClinVar, OMIM |
| Intellectual disability | SOX8 mutations have been associated with neurodevelopmental delay and intellectual disability, likely due to disrupted neural crest cell development. | ClinVar, NCBI |
| Oligoasthenoteratozoospermia (OAT) | SOX8 variants may contribute to spermatogenic failure by affecting Sertoli cell function and testicular development. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain (cerebellum) | 8.2 | Medium |
| Brain (cortex) | 6.1 | Medium |
| Heart | 3.4 | Low |
| Liver | 1.2 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sertoli cells (primary) | 15.0 | High expression; key role in testis development |
| SH-SY5Y (neuroblastoma) | 7.5 | Medium expression; neuronal lineage |
| HEK293 (embryonic kidney) | 4.2 | Low expression; non-neuronal |
| HepG2 (hepatocellular carcinoma) | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | Rare | Reduced DNA-binding affinity; associated with campomelic dysplasia |
| c.389G>A (p.Arg130Gln) | Missense | Rare | Impaired transcriptional activity; linked to intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; likely pathogenic for sex reversal |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations that reduce or abolish DNA binding or transcriptional activity, leading to haploinsufficiency in campomelic dysplasia and sex reversal.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in SOX8.
Dominant Negative (DN)
Some missense variants (e.g., p.Pro36Leu) may act in a dominant-negative manner by interfering with wild-type SOX8 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SOX-mediated regulation of male sex determination (Reactome: R-HSA-9696273)
• Neural crest differentiation (Reactome: R-HSA-8866907)
• Transcriptional regulation by SOX family (KEGG: hsa04550)
Protein Summary
SOX8 is a 446-amino acid transcription factor containing a conserved HMG box DNA-binding domain. It forms homodimers or heterodimers with other SOX proteins (e.g., SOX9, SOX10) to regulate target gene expression. The protein is predominantly nuclear and is essential for Sertoli cell differentiation, testis cord formation, and chondrogenesis. SOX8 also contributes to neural crest development and maintenance of neural stem cells. Post-translational modifications such as phosphorylation may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX8 Knockout HEK293 Cell Line | EDJ-KQ9177 | Human | 30812 | Details Get a Quote |
| SOX8 Knockout HCT 116 Cell Line | EDJ-KQ34482 | Human | 30812 | Details Get a Quote |
| SOX8 Knockout HeLa Cell Line | EDJ-KQ56147 | Human | 30812 | Details Get a Quote |
| SOX8 Knockout A-549 Cell Line | EDJ-KQ64637 | Human | 30812 | Details Get a Quote |
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