SYNRG

Chr 17

synergin gamma

Also known as: AP1GBP1, SYNG

NCBI Gene: 11276ENSG00000275066UniProt: Q9UMZ2OMIM: 607291

The protein functions in intracellular membrane trafficking at the trans-Golgi network by linking the AP-1 clathrin-adaptor complex to other proteins and is a component of clathrin-coated vesicles involved in protein transport between cellular compartments. Mutations cause autosomal recessive pontocerebellar hypoplasia type 14, a severe neurodevelopmental disorder with onset in infancy characterized by underdevelopment of the brainstem and cerebellum. This gene is highly constrained against loss-of-function variants in the general population.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.32
Clinical Summary— SYNRG
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.931
Z-score 5.65
OE 0.19 (0.12–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.44Z-score
OE missense 0.85 (0.79–0.91)
583 obs / 689.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.12–0.32)
0≤0.351.4
Missense OE0.85 (0.79–0.91)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 11 / 57.0Missense obs/exp: 583 / 689.2Syn Z: 0.30
DN
0.3296th %ile
GOF
0.3788th %ile
LOF
0.64top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.32

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYNRG · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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