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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SYBU
syntabulin
Chromosome 8 · 8q23.2
NCBI Gene: 55638Ensembl: ENSG00000147642.17HGNC: HGNC:26011UniProt: B7Z4D2
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
vesicleprotein bindingmicrotubulemitochondrionAlzheimer diseasejoint diseaseovarian neoplasmurethral disease
✦AI Summary

SYBU (syntabulin) is a critical component of kinesin motor-adapter complexes that facilitates anterograde axonal transport of active zone components and mitochondria, playing essential roles in neuronal development and synaptic function. The protein is involved in vesicular transport mechanisms and localizes to the Golgi apparatus as a membrane-bound protein with transmembrane domains 1. SYBU contributes to activity-dependent presynaptic assembly during neuronal development and is crucial for proper mitochondrial distribution in axons and synapses 2. Disease relevance studies have identified SYBU as one of 12 potentially novel risk loci for Parkinson's disease through multi-ancestry genome-wide association studies, with variants detected in both manifest PD patients and individuals in the prodromal stage 34. Additionally, SYBU protein levels are significantly decreased in neurodegenerative diseases including Alzheimer's disease, Parkinson's disease with dementia, and dementia with Lewy bodies, with this reduction correlating with cognitive impairment and rate of cognitive decline 5. The protein also shows differential expression in various pathological conditions, including lacrimal gland carcinoma and polycystic ovary syndrome, suggesting broader roles in cellular transport and disease processes 67.

Sources cited
1
SYBU localizes to Golgi apparatus as membrane-bound protein involved in vesicular transport
PMID: 15656992
2
SYBU contributes to mitochondrial transport and distribution in axons and synapses
PMID: 19341731
3
SYBU identified as novel risk locus for Parkinson's disease in multi-ancestry GWAS
PMID: 38155330
4
SYBU variants detected in prodromal stage of Parkinson's disease patients
PMID: 38732343
5
SYBU protein levels significantly decreased in neurodegenerative diseases and correlate with cognitive decline
PMID: 29324989
6
SYBU shows differential expression in lacrimal gland adenoid cystic carcinoma
PMID: 36816203
7
SYBU expression elevated in polycystic ovary syndrome patients
PMID: 38243290
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.33Weak
joint diseaseOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.31Weak
urethral diseaseOpen Targets
0.30Weak
urinary system diseaseOpen Targets
0.29Weak
keratitisOpen Targets
0.29Weak
bone fractureOpen Targets
0.28Weak
liver diseaseOpen Targets
0.26Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
deficiency anemiaOpen Targets
0.26Weak
dementiaOpen Targets
0.18Weak
response to antihypertensive drugOpen Targets
0.17Weak
lower urinary tract calculusOpen Targets
0.16Weak
epilepsyOpen Targets
0.08Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
uterine fibroidOpen Targets
0.04Suggestive
Uterine leiomyomaOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
46,XX gonadal dysgenesisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNAP25Protein interaction100%STXBP5Protein interaction100%KIF5BProtein interaction84%BSNProtein interaction79%SNPHProtein interaction79%ARMCX2Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
59%
Ovary
19%
Heart
13%
Lung
11%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SYBUSNAP25STXBP5KIF5BBSNSNPHARMCX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NX95
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.44–0.89]
RankingsWhere SYBU stands among ~20K protein-coding genes
  • #11,077of 20,598
    Most Researched35
  • #8,020of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedSYBU
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
PMID: 38155330
Nat Genet · 2024
1.00
2
Novel Variants Linked to the Prodromal Stage of Parkinson's Disease (PD) Patients.
PMID: 38732343
Diagnostics (Basel) · 2024
0.90
3
Synaptic markers of cognitive decline in neurodegenerative diseases: a proteomic approach.
PMID: 29324989
Brain · 2018
0.80
4
Comparison of biological behavior of lacrimal gland adenoid cystic carcinoma with high-grade transformation cells.
PMID: 36816203
Int J Ophthalmol · 2023
0.70
5
Molecular cloning and characterization of gene for Golgi-localized syntaphilin-related protein on human chromosome 8q23.
PMID: 15656992
Gene · 2005
0.60