DISP3

Chr 1

dispatched RND transporter family member 3

Also known as: PTCHD2

NCBI Gene: 57540ENSG00000204624UniProt: Q9P2K9

Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.000
Z-score 4.44
OE 0.39 (0.28–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.52Z-score
OE missense 0.86 (0.81–0.91)
772 obs / 900.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.28–0.55)
0≤0.351.4
Missense OE?0.86 (0.81–0.91)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 24 / 61.6Missense obs/exp: 772 / 900.2Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DISP3 · 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