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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SYNPR
synaptoporin
Chromosome 3 · 3p14.2
NCBI Gene: 132204Ensembl: ENSG00000163630.11HGNC: HGNC:16507UniProt: Q8TBG9
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynaptic vesicle membranesynaptic vesiclemembranebenign neoplasmAbruptio Placentaeanaphylaxissialolithiasis
✦AI Summary

SYNPR (synaptoporin) is an intrinsic membrane protein of small synaptic vesicles that functions as a probable vesicular channel protein 1. While its primary role involves synaptic vesicle structure and function, genome-wide association studies have identified SYNPR variants as significant genetic risk factors for multiple diseases. A meta-analysis of 1,622 Chinese AIH type 1 patients identified a SYNPR variant (rs6809477) exceeding genome-wide significance (OR=1.25, p=5.48×10⁻⁹), suggesting neuro-immune interactions contribute to autoimmune hepatitis pathogenesis 2. SYNPR variants also associate with gestational diabetes mellitus in Chinese populations, with pathway analysis indicating involvement in glycometabolism regulation 3. In cancer contexts, SYNPR appears significantly downregulated in glioblastoma tissues and cell lines, identifying it as a potential prognostic molecular marker 4. Additionally, SYNPR represents a dorsal horn pain-modulating gene linked to the BDNF/neuropathic pain pathway in chr3 pancreatitis, where genetic variants correlate with constant-severe pain experiences 5. The gene's disease associations suggest SYNPR function extends beyond synaptic vesicle biology to influence immune regulation, glucose metabolism, neural development, and pain processing, highlighting its importance as a cross-system genetic risk factor.

Sources cited
1
SYNPR variant rs6809477 significantly associated with autoimmune hepatitis type 1 (OR=1.25, p=5.48×10⁻⁹) and suggests neuro-immune interaction in AIH pathogenesis
PMID: 35184318
2
Non-HLA gene SYNPR identified in genome-wide association analyses as increasing autoimmune hepatitis susceptibility
PMID: 37945156
3
SYNPR identified through GWAS as a gene associated with gestational diabetes mellitus and enriched in glycometabolism pathways
PMID: 31269844
4
SYNPR significantly downregulated in glioblastoma tissues and cell lines, identified as potential molecular marker for GBM prognosis
PMID: 38446410
5
SYNPR linked to dorsal horn pain-modulating BDNF/neuropathic pain pathway in chronic pancreatitis with severe pain phenotypes
PMID: 39674387
6
SYNPR identified as neuron-related gene with altered expression in brain arteriovenous malformations
PMID: 24162243
Disease Associationsⓘ20
benign neoplasmOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.29Weak
anaphylaxisOpen Targets
0.29Weak
sialolithiasisOpen Targets
0.29Weak
complex regional pain syndromeOpen Targets
0.28Weak
enteritisOpen Targets
0.27Weak
cardiomyopathyOpen Targets
0.27Weak
drug allergyOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.21Weak
placenta praeviaOpen Targets
0.20Weak
ulcerative colitisOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.18Weak
spondylolisthesisOpen Targets
0.18Weak
mathematical abilityOpen Targets
0.16Weak
Autoimmune HepatitisOpen Targets
0.15Weak
astrocytomaOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
ependymomaOpen Targets
0.05Suggestive
childhood supratentorial ependymomaOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SYNGR1Protein interaction93%SYNGR2Protein interaction74%SYN1Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Heart
6%
Bone Marrow
0%
Lung
0%
Liver
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SYNPRSYNGR1SYNGR2SYN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TBG9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.51–1.00]
RankingsWhere SYNPR stands among ~20K protein-coding genes
  • #13,759of 20,598
    Most Researched22
  • #9,646of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSYNPR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoimmune Hepatitis: Pathophysiology.
PMID: 37945156
Clin Liver Dis · 2024
1.00
2
Genome-wide meta-analysis identifies susceptibility loci for autoimmune hepatitis type 1.
PMID: 35184318
Hepatology · 2022
0.90
3
Construction and validation of an angiogenesis-related lncRNA prognostic model in lung adenocarcinoma.
PMID: 36999053
Front Genet · 2023
0.80
4
A genome-wide association study of gestational diabetes mellitus in Chinese women.
PMID: 31269844
J Matern Fetal Neonatal Med · 2021
0.70
5
Differential gene expression in relation to the clinical characteristics of human brain arteriovenous malformations.
PMID: 24162243
Neurol Med Chir (Tokyo) · 2014
0.60