GSX2

Chr 4AR

GS homeobox 2

Also known as: DMJDS2, GSH2

NCBI Gene: 170825ENSG00000180613UniProt: Q9BZM3OMIM: 616253

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in DNA-templated transcription; nervous system development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and positive regulation of oligodendrocyte differentiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diencephalic-mesencephalic junction dysplasia syndrome 2MIM #618646
AR

Clinical highlights

Gene-disease validity (ClinGen)
diencephalic-mesencephalic junction dysplasia syndrome 2 · ARModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.257
Z-score 1.89
OE 0.26 (0.11–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.59Z-score
OE missense 0.87 (0.76–1.00)
143 obs / 164.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.11–0.83)
0≤0.351.4
Missense OE?0.87 (0.76–1.00)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 2 / 7.6Missense obs/exp: 143 / 164.3Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GSX2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients