SOX7: SRY-Box Transcription Factor 7
A key regulator of cardiovascular development and tumor suppression
Gene Information Card
| Symbol | SOX7 |
|---|---|
| Full Name | SRY-box transcription factor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 83595 ncbi.nlm.nih.gov/gene/83595 |
| Ensembl ID | ENSG00000171056 |
| UniProt ID | Q9BT81 |
| OMIM ID | 611202 |
| HGNC ID | 18196 |
| Aliases | SOX7A, SOX7B |
Description
SOX7 encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which play critical roles in embryonic development and cell fate determination. SOX7 is involved in cardiovascular development, hematopoiesis, and acts as a tumor suppressor in various cancers by regulating Wnt/β-catenin signaling and other pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease | SOX7 mutations disrupt cardiac development pathways | PMID: 29754768 |
| Lung cancer | SOX7 downregulation promotes tumor growth via Wnt signaling | PMID: 25636855 |
| Colorectal cancer | SOX7 loss leads to β-catenin activation and proliferation | PMID: 23361062 |
| Breast cancer | SOX7 methylation silences expression, enhancing metastasis | PMID: 26252982 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Placenta | 15.1 | Medium |
| Skeletal muscle | 4.2 | Low |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 18.4 | Endothelial cell line |
| A549 | 2.1 | Lung carcinoma |
| MCF7 | 1.5 | Breast cancer |
| HCT116 | 0.8 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function |
| c.200C>T | Nonsense | Rare | Premature truncation |
| c.350G>A | Missense | Rare | Reduced DNA binding |
Mutation functional classification
Loss of Function (LOF)
Most SOX7 mutations result in loss of transcriptional activity, impairing target gene regulation.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type SOX7 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Cardiac progenitor differentiation (KEGG: hsa05410)
Protein Summary
SOX7 is a 388-amino acid transcription factor containing a high-mobility group (HMG) box domain that binds DNA in a sequence-specific manner. It regulates genes involved in cardiovascular development, endothelial cell function, and tumor suppression. The protein is predominantly nuclear and interacts with β-catenin to modulate Wnt signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX7 Knockout HEK293 Cell Line | EDJ-KQ9865 | Human | 83595 | Details Get a Quote |
| SOX7 Knockout HeLa Cell Line | EDJ-KQ36735 | Human | 83595 | Details Get a Quote |
| SOX7 Knockout A-549 Cell Line | EDJ-KQ65957 | Human | 83595 | Details Get a Quote |
| SOX7 Knockout HCT 116 Cell Line | EDJ-KQ74380 | Human | 83595 | Details Get a Quote |
