STOX1: Storkhead Box 1 Gene
Genetic insights into preeclampsia and neurodevelopmental disorders
Gene Information Card
| Symbol | STOX1 |
|---|---|
| Full Name | Storkhead Box 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 219749 ncbi.nlm.nih.gov/gene/219749 |
| Ensembl ID | ENSG00000165782 |
| UniProt ID | Q6ZVD8 |
| OMIM ID | 609397 |
| HGNC ID | 23507 |
| Aliases | FLJ12884, MGC138290, MGC138291 |
Description
STOX1 (Storkhead Box 1) is a protein-coding gene located on chromosome 10q22.1. It encodes a transcription factor containing a forkhead domain, involved in regulating gene expression during development. STOX1 is primarily studied for its role in preeclampsia, a pregnancy-specific hypertensive disorder, and has also been implicated in neurodevelopmental processes. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preeclampsia | STOX1 variants (e.g., Y153H) alter trophoblast gene expression, impairing placental function and contributing to hypertension and proteinuria in pregnancy. | OMIM 609397; NCBI Gene; ClinVar |
| Neurodevelopmental disorders | STOX1 overexpression or dysregulation may affect neuronal migration and synaptic function, linked to autism spectrum disorder and intellectual disability. | OMIM 609397; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Brain (cerebral cortex) | 8.3 | Low |
| Heart | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| JEG-3 (choriocarcinoma) | 15.2 | Trophoblast model |
| SH-SY5Y (neuroblastoma) | 9.8 | Neuronal model |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Y153H | Missense | Rare (0.1% in some populations) | Alters forkhead domain DNA binding; associated with preeclampsia risk |
| c.1246C>T | Nonsense | Very rare | Premature truncation; potential loss of function |
| rs1126930 | Intronic variant | Common (30-40%) | Modulates expression; linked to preeclampsia susceptibility |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.1246C>T) leading to truncated protein likely result in loss of transcriptional activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance DNA binding or alter target gene specificity.
Dominant Negative (DN)
Hypothesized for certain missense variants (e.g., Y153H) that may interfere with wild-type STOX1 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • forkhead box domain binding |
| • regulation of transcription by RNA polymerase II | • nucleus |
| • embryonic development | • placenta development |
Pathways
• Trophoblast differentiation
• Wnt signaling pathway (modulation)
• Cell cycle regulation
Protein Summary
STOX1 encodes a 575-amino acid protein with a conserved forkhead (FOX) DNA-binding domain. It functions as a transcription factor regulating genes involved in placental development, cell proliferation, and neurogenesis. The protein localizes to the nucleus and is expressed in trophoblasts and neural tissues. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STOX1 Knockout HEK293 Cell Line | EDJ-KQ8304 | Human | 219736 | Details Get a Quote |
| STOX1 Knockout HCT 116 Cell Line | EDJ-KQ32954 | Human | 219736 | Details Get a Quote |
| STOX1 Knockout A-549 Cell Line | EDJ-KQ34273 | Human | 219736 | Details Get a Quote |
| STOX1 Knockout HeLa Cell Line | EDJ-KQ59096 | Human | 219736 | Details Get a Quote |
