GDAP2

Chr 1

ganglioside induced differentiation associated protein 2

Also known as: MACROD3, SCAR27

NCBI Gene: 54834ENSG00000196505UniProt: Q9NXN4

Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 27

Clinical highlights

Gene-disease validity (ClinGen)
spinocerebellar ataxia, autosomal recessive 27 · ARStrongappropriate for clinical testing
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 2.01
OE 0.61 (0.43–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.84 (0.75–0.94)
219 obs / 261.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.43–0.90)
0≤0.351.4
Missense OE?0.84 (0.75–0.94)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 19 / 31.1Missense obs/exp: 219 / 261.2Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GDAP2 · 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