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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GSX1
GS homeobox 1
Chromosome 13 · 13q12.2
NCBI Gene: 219409Ensembl: ENSG00000169840.5HGNC: HGNC:20374UniProt: Q9H4S2
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIprotein bindingsequence-specific DNA bindingsequence-specific double-stranded DNA bindingneurodegenerative diseasesialolithiasisexostosisspondylolisthesis
✦AI Summary

GSX1 is a transcription factor that binds specific DNA sequences and plays critical roles in neural development and disease pathology. GSX1 functions as a homeobox gene within the ParaHox cluster 1, exhibiting redundant roles with its homolog Gsx2 in suppressing oligodendrocyte progenitor cell (OPC) specification in the lateral ganglionic eminence during telencephalic development 2. During cerebellar neurogenesis, BMP/SMAD signaling transcriptionally represses Gsx1 in early progenitors, and gradual decline of this repression allows temporal fate transition toward late-born interneuron specification 3. GSX1-expressing neurons in the dorsal brainstem are essential for prepulse inhibition, a sensory gating mechanism; Gsx1 knockout mice and zebrafish with ablated Gsx1 neurons show profound PPI deficits, linking interneuron specification control to sensory information filtering 4. Beyond neurodevelopment, GSX1 has clinical relevance as a biomarker for cervical cancer screening: DNA methylation patterns in the GSX1 locus contribute to the WID-qCIN test, which detects cervical intraepithelial neoplasia grade 3 with 78-100% sensitivity and 90% specificity in HPV-positive women 56. Additionally, GSX1 methylation in the hippocampus correlates with age-related spatial memory decline in rats 7, and a genetic variant near GSX1 associates with reduced pancreatic fat content and lower type 2 diabetes risk 8.

Sources cited
1
GSX1 and GSX2 have redundant roles in suppressing OPC specification in ventral telencephalon progenitors and GSX1 plays a role in expansion of migrating OPCs
PMID: 29990475
2
BMP/SMAD signaling represses Gsx1 in early cerebellar progenitors; Gsx1 expression increases as BMP signaling declines, enabling late neuronal fate specification
PMID: 32187534
3
GSX1-expressing glutamatergic neurons in the dorsal brainstem are required for prepulse inhibition; Gsx1 knockout mice have impaired PPI
PMID: 25224259
4
GSX1 DNA methylation is used in the WID-qCIN test for cervical cancer screening, achieving 93.4% detection of CIN3 and invasive cancer in HPV-positive women
PMID: 38834848
5
GSX1 methylation status in the WID-qCIN test has 78-100% sensitivity for cervical cancer and CIN3 detection with 90% specificity
PMID: 36414968
6
GSX1 methylation in aged rat hippocampus shows significant regression with spatial memory performance
PMID: 35917578
7
A genetic variant (rs73449607) located in the intergenic region between GSX1 and PLUTO associates with lower pancreatic fat and reduced type 2 diabetes risk
PMID: 34329319
8
GSX1 is part of the ParaHox gene cluster alongside Pdx1 and Cdx2
PMID: 20463047
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
sialolithiasisOpen Targets
0.29Weak
exostosisOpen Targets
0.06Suggestive
spondylolisthesisOpen Targets
0.06Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
PituicytomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
Nematoda infectious diseaseOpen Targets
0.01Suggestive
Moebius syndromeOpen Targets
0.01Suggestive
Neurodevelopmental delayOpen Targets
0.01Suggestive
cyclic hematopoiesisOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.00Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
fungal infectious diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EMX1Shared pathway100%EMX2Shared pathway100%VAX1Shared pathway100%NOTOShared pathway100%DMBX1Shared pathway50%ZIC2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
33%
Lung
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GSX1EMX1EMX2VAX1NOTODMBX1ZIC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H4S2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.58–1.42]
RankingsWhere GSX1 stands among ~20K protein-coding genes
  • #16,778of 20,598
    Most Researched11
  • #14,642of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedGSX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cervical cancer screening using DNA methylation triage in a real-world population.
PMID: 38834848
Nat Med · 2024
1.00
2
PMID: 39637134
0.90
3
Gsx transcription factors control neuronal versus glial specification in ventricular zone progenitors of the mouse lateral ganglionic eminence.
PMID: 29990475
Dev Biol · 2018
0.80
4
Gsx1 expression defines neurons required for prepulse inhibition.
PMID: 25224259
Mol Psychiatry · 2015
0.70
5
Hippocampal DNA Methylation, Epigenetic Age, and Spatial Memory Performance in Young and Old Rats.
PMID: 35917578
J Gerontol A Biol Sci Med Sci · 2022
0.60