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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BET1
Bet1 golgi vesicular membrane trafficking protein
Chromosome 7 · 7q21.3
NCBI Gene: 10282Ensembl: ENSG00000105829.13HGNC: HGNC:14562UniProt: O15155
59PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cis-Golgi networkendoplasmic reticulum to Golgi vesicle-mediated transportmembraneprotein bindingneurodegenerative diseasemuscular dystrophy, congenital, with rapid progressioncongenital muscular dystrophypoisoning
✦AI Summary

BET1 encodes a Golgi vesicular membrane trafficking protein essential for secretory pathway function. As a SNARE protein, BET1 is required for vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex, specifically mediating fusion of ER-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and cis-Golgi membrane 1. BET1 functions as part of a SNARE complex with GOSR2, SEC22b, and syntaxin-5 to accomplish this essential membrane fusion step 1. Beyond canonical ER-Golgi transport, BET1 interacts with additional factors including ERGIC-53, and can be recruited to alternative trafficking pathways, such as those involving MT1-MMP transport to invadopodia in invasive cancer cells 2. Biallelic BET1 variants cause severe congenital muscular dystrophy (CMD) with epilepsy, establishing impaired vesicular transport as a pathogenic mechanism 1. Disease-associated variants reduce BET1 protein levels through aberrant splicing or disrupt protein interactions, compromising ERGIC-53 binding and causing protein mislocalization 1. The clinical significance of BET1 is further underscored by its role in regulating the secretory pathway under metabolic stress, as BET1-containing SNARE complexes are subject to negative regulation by the lactate and hypoxia sensor NDRG3 3. These findings establish BET1 as a critical component of the secretory pathway with direct relevance to inherited neuromuscular disease.

Sources cited
1
BET1 is required for fusion of ER-derived vesicles with ERGIC and cis-Golgi; BET1 variants cause congenital muscular dystrophy with epilepsy; disease variants impair ER-to-Golgi transport and disrupt ERGIC-53 interaction
PMID: 34779586
2
BET1 can be recruited from ER-Golgi transport to promote MT1-MMP trafficking to cell surface invadopodia via formation of novel SNARE complexes
PMID: 31519727
3
BET1, GOSR2, and STX5 variants cause fatal inherited diseases including epilepsies and muscular dystrophy; ER-to-Golgi SNARE complex function is negatively regulated by NDRG3 under hypoxia and elevated lactate
PMID: 41252154
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.55Moderate
muscular dystrophy, congenital, with rapid progressionOpen Targets
0.52Moderate
congenital muscular dystrophyOpen Targets
0.38Weak
poisoningOpen Targets
0.29Weak
Abnormality of the genital systemOpen Targets
0.26Weak
ventricular fibrillationOpen Targets
0.25Weak
lymphoid leukemiaOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.19Weak
auditory system diseaseOpen Targets
0.17Weak
Progressive muscle weaknessOpen Targets
0.15Weak
SeizureOpen Targets
0.15Weak
Varicose veinsOpen Targets
0.05Suggestive
self-injurious ideationOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
ocular hypotensionOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
bone fractureOpen Targets
0.02Suggestive
temporomandibular joint disorderOpen Targets
0.02Suggestive
epilepsyOpen Targets
0.02Suggestive
Muscular dystrophy, congenital, with rapid progressionUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNAP25Protein interaction100%VTI1AProtein interaction100%STX1BProtein interaction100%SEC22AProtein interaction100%STX12Protein interaction99%SEC22CProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Ovary
79%
Heart
65%
Lung
56%
Brain
41%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
BET1SNAP25VTI1ASTX1BSEC22ASTX12SEC22C
PROTEIN STRUCTURE
Preparing viewer…
PDB3EGX · 3.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.55LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.51–1.55]
RankingsWhere BET1 stands among ~20K protein-coding genes
  • #7,737of 20,598
    Most Researched59
  • #15,435of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedBET1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
PMID: 34779586
EMBO Mol Med · 2021
1.00
2
MT1-MMP recruits the ER-Golgi SNARE Bet1 for efficient MT1-MMP transport to the plasma membrane.
PMID: 31519727
J Cell Biol · 2019
0.90
3
Best Evidence Topic report. Bet1. U-slab, hanging cast or collar and cuff in uncomplicated shaft of humerus fractures in the elderly.
PMID: 18356356
Emerg Med J · 2008
0.80
4
The lactate sensor NDRG3 decelerates ER-to-Golgi transport through interaction with the long isoform of syntaxin-5.
PMID: 41252154
Proc Natl Acad Sci U S A · 2025
0.70
5
The landscape of allelic expression and DNA methylation at the bovine SGCE/PEG10 locus.
PMID: 38594908
Anim Genet · 2024
0.60