INSYN2A

Chr 10

inhibitory synaptic factor 2A

Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code

OMIMResearchGenerating clinical summary…

Clinical highlights

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
Pubs (1 yr)
P/LP submissions
P/LP missense
0.38
LOEUF
Mechanism
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.38LOEUF
pLI 0.915
Z-score 3.34
OE 0.12 (0.050.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.12Z-score
OE missense 1.02 (0.931.12)
308 obs / 302.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.12 (0.050.38)
00.351.4
Missense OE?1.02 (0.931.12)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 2 / 16.7Missense obs/exp: 308 / 302.1Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

INSYN2A · 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

No active trials found for this gene.

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