GOSR2
Golgi SNAP Receptor Complex Member 2
Gene Information Card
| Symbol | GOSR2 |
|---|---|
| Full Name | Golgi SNAP Receptor Complex Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 9570 ncbi.nlm.nih.gov/gene/9570 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | O14653 |
| OMIM ID | 604027 |
| HGNC ID | 4431 |
| Aliases | GS27, membrin, GOS-2 |
Description
GOSR2 encodes a Golgi SNAP receptor complex member, also known as membrin or GS27, which is a vesicle trafficking protein involved in the fusion of transport vesicles from the endoplasmic reticulum to the Golgi apparatus. It is a component of the SNARE complex that mediates membrane fusion and is essential for proper protein sorting and secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive myoclonus epilepsy with ataxia (PMEA) | Homozygous or compound heterozygous missense mutations in GOSR2 impair Golgi trafficking and neuronal function, leading to epilepsy and ataxia. | ClinVar, OMIM |
| Spinocerebellar ataxia type 14 (SCA14) | Rare GOSR2 variants may contribute to cerebellar degeneration, though evidence is limited. | OMIM |
| Cancer (various) | Somatic mutations in GOSR2 have been reported in colorectal and lung cancers, potentially affecting vesicle trafficking and cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Cerebellum | 18.7 | Medium |
| Heart | 12.1 | Medium |
| Liver | 8.5 | Low |
| Pancreas | 6.3 | Low |
| Testis | 20.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Moderate expression |
| HeLa | 11.2 | Moderate expression |
| SH-SY5Y | 16.8 | High expression |
| A549 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430G>T (p.Gly144Trp) | Missense | Rare (PMEA) | Impairs Golgi trafficking, causes progressive myoclonus epilepsy with ataxia |
| c.430G>A (p.Gly144Arg) | Missense | Rare | Likely similar effect to Gly144Trp |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein function |
| c.527C>T (p.Thr176Met) | Missense | Somatic (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) lead to complete loss of GOSR2 protein, disrupting Golgi trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly144Trp) may act in a dominant-negative manner by interfering with SNARE complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • vesicle fusion |
| • Golgi vesicle transport | • intracellular protein transport |
| • membrane fusion |
Pathways
• ER to Golgi vesicle-mediated transport
• SNARE interactions in vesicular transport
Protein Summary
GOSR2 (membrin) is a 27 kDa Golgi SNARE protein that forms part of the cis-Golgi t-SNARE complex. It mediates the docking and fusion of COPII vesicles from the endoplasmic reticulum. The protein contains a coiled-coil domain and a transmembrane domain, anchoring it to the Golgi membrane. Mutations in GOSR2 cause progressive myoclonus epilepsy with ataxia (PMEA) due to impaired vesicle trafficking in neurons.
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