SOX3: SRY-Box Transcription Factor 3
A key regulator of pituitary and nervous system development, linked to X-linked intellectual disability and growth hormone deficiency.
Gene Information Card
| Symbol | SOX3 |
|---|---|
| Full Name | SRY-Box Transcription Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq27.1 |
| NCBI Gene ID | 6658 ncbi.nlm.nih.gov/gene/6658 |
| Ensembl ID | ENSG00000134595 |
| UniProt ID | P41225 |
| OMIM ID | 313430 |
| HGNC ID | 11199 |
| Aliases | PHP, PHPX, MRGH, GHDX, SOXB1 |
Description
SOX3 is a member of the SOX (SRY-related HMG-box) family of transcription factors, essential for embryonic development, particularly of the pituitary gland and central nervous system. It acts as a transcriptional regulator by binding to DNA via its high-mobility group (HMG) domain. Mutations and duplications of SOX3 are associated with X-linked intellectual disability, growth hormone deficiency, and pituitary anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability with growth hormone deficiency | Loss-of-function or duplication of SOX3 disrupts pituitary development and neuronal differentiation. | ClinVar, OMIM #313430 |
| Panhypopituitarism | SOX3 mutations impair pituitary gland formation, leading to combined pituitary hormone deficiencies. | OMIM #312000 |
| X-linked hypopituitarism | Duplications or deletions of SOX3 cause variable pituitary dysfunction. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Low |
| Pituitary gland | 12.8 | Medium |
| Testis | 3.1 | Low |
| Spinal cord | 4.5 | Low |
| Thyroid gland | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal lineage |
| HeLa (cervical carcinoma) | 0.5 | Very low expression |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low expression |
| MCF7 (breast cancer) | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss-of-function |
| c.430C>T (p.Arg144*) | Nonsense | Rare | Premature stop, loss-of-function |
| Whole gene duplication | Copy number gain | Rare | Gain-of-function, associated with hypopituitarism |
| c.559G>A (p.Gly187Arg) | Missense | Rare | Impaired DNA binding, loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg144*, p.Gly187Arg) that disrupt DNA binding or protein stability, leading to reduced transcriptional activity.
Gain of Function (GOF)
Whole gene duplications resulting in increased SOX3 dosage, associated with pituitary dysfunction.
Dominant Negative (DN)
Not clearly documented; most pathogenic variants are hemizygous in males, acting as loss-of-function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pituitary development pathway (R-HSA-5617472)
• Transcriptional regulation by SOX family (R-HSA-5619507)
Protein Summary
SOX3 is a 446-amino acid transcription factor containing a conserved HMG box that mediates sequence-specific DNA binding. It is predominantly expressed in the developing pituitary and central nervous system. The protein regulates target genes involved in cell proliferation, differentiation, and organogenesis. Structural alterations in the HMG domain or gene dosage changes lead to developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOX3 Knockout HEK293 Cell Line | EDJ-KQ3036 | Human | 6658 | Details Get a Quote |
| SOX30 Knockout HEK293 Cell Line | EDJ-KQ7262 | Human | 11063 | Details Get a Quote |
| SOX3 Knockout HeLa Cell Line | EDJ-KQ54537 | Human | 6658 | Details Get a Quote |
| SOX30 Knockout HeLa Cell Line | EDJ-KQ55560 | Human | 11063 | Details Get a Quote |
| SOX3 Knockout A-549 Cell Line | EDJ-KQ63021 | Human | 6658 | Details Get a Quote |
| SOX30 Knockout A-549 Cell Line | EDJ-KQ64055 | Human | 11063 | Details Get a Quote |
| SOX3 Knockout HCT 116 Cell Line | EDJ-KQ71497 | Human | 6658 | Details Get a Quote |
| SOX30 Knockout HCT 116 Cell Line | EDJ-KQ72504 | Human | 11063 | Details Get a Quote |
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