GOSR2

Chr 17AR

golgi SNAP receptor complex member 2

Also known as: Bos1, EPM6, GS27, MYOS

NCBI Gene: 9570ENSG00000108433UniProt: O14653OMIM: 604027

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epilepsy, progressive myoclonic 6MIM #614018
AR
Muscular dystrophy, congenital, with or without seizuresMIM #620166
AR

Clinical highlights

Gene-disease validity (ClinGen)
progressive myoclonus epilepsy · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.63
OE 0.81 (0.51–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.49Z-score
OE missense 1.12 (0.98–1.29)
138 obs / 122.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.51–1.35)
0≤0.351.4
Missense OE?1.12 (0.98–1.29)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 11 / 13.5Missense obs/exp: 138 / 122.8Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOSR2 · protein map & ClinVar variants

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

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