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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNAPIN
SNAP associated protein
Chromosome 1 · 1q21.3
NCBI Gene: 23557Ensembl: ENSG00000143553.12HGNC: HGNC:17145UniProt: O95295
80PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
synapselysosome localizationprotein bindingsynaptic vesicle transportAbnormal brain morphologyhepatocellular carcinomaAlzheimer diseaseisolated asymptomatic elevation of creatine phosphokinase
✦AI Summary

SNAPIN encodes a multifunctional adaptor protein that plays critical roles in vesicle trafficking, autophagy-lysosomal function, and neurodevelopment. As a component of the BLOC-1 and BORC complexes, SNAPIN regulates lysosome-related organelle biogenesis and lysosomal positioning at the cell periphery 1. The protein is essential for maintaining lysosomal acidification and autophagosome maturation in macrophages by preventing proton leak from lysosomes 2. In neurons, SNAPIN undergoes phosphorylation by p38α-MAPK at serine 112, which modulates retrograde axonal transport of BACE1 and influences amyloid pathology in Alzheimer's disease 3. The protein also promotes pancreatic β-cell proliferation by regulating cell cycle progression through modulation of CDK2, CDK4, and CCND1 expression 4. SNAPIN interacts with various cellular partners including PUMILIO2 and NANOS1 in male germ cells, suggesting roles in translational regulation 5, and with G-protein coupled receptor PKR2, affecting receptor trafficking 6. Pathogenic bi-allelic variants in SNAPIN cause severe prenatal-onset neurodevelopmental disorders characterized by brain anomalies, craniofacial defects, and skeletal abnormalities, with zebrafish models demonstrating defective retrograde vesicle transport and autophagy activation 1.

Sources cited
1
SNAPIN causes prenatal-onset neurodevelopmental disorders and is involved in retrograde dynein transport
PMID: 40930097
2
SNAPIN maintains lysosomal acidification and autophagosome maturation by preventing proton leak
PMID: 27929705
3
p38α-MAPK phosphorylates SNAPIN at serine 112 to regulate BACE1 retrograde transport
PMID: 34118085
4
SNAPIN promotes β-cell proliferation through cell cycle regulation
PMID: 34194388
5
SNAPIN interacts with PUMILIO2 and NANOS1 in male germ cells
PMID: 19168546
6
SNAPIN interacts with PKR2 and affects receptor trafficking
PMID: 26687946
Disease Associationsⓘ20
Abnormal brain morphologyOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
functional neutrophil defectOpen Targets
0.05Suggestive
isolated hyperchlorhidrosisOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
pseudohypoaldosteronism, type IB3, autosomal recessiveOpen Targets
0.04Suggestive
hyperkalemic periodic paralysisOpen Targets
0.04Suggestive
pseudohypoaldosteronism, type IB2, autosomal recessiveOpen Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
Hearing loss - familial salivary gland insensitivity to aldosteroneOpen Targets
0.03Suggestive
hearing loss-familial salivary gland insensitivity to aldosterone syndromeOpen Targets
0.03Suggestive
familial isolated hyperparathyroidismOpen Targets
0.03Suggestive
hyperparathyroidismOpen Targets
0.03Suggestive
pseudohypoaldosteronism type 2BOpen Targets
0.03Suggestive
pseudohypoaldosteronism type 2DOpen Targets
0.03Suggestive
Liddle syndrome 2Open Targets
0.03Suggestive
Liddle syndrome 3Open Targets
0.03Suggestive
Pathogenic Variants5
NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp)Likely pathogenic
Abnormal brain morphology|See cases|Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
★★☆☆2024→ Residue 55
NM_012437.6(SNAPIN):c.147G>C (p.Glu49Asp)Likely pathogenic
See cases|Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
★☆☆☆2024→ Residue 49
NM_012437.6(SNAPIN):c.91G>T (p.Glu31Ter)Pathogenic
See cases|Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
★☆☆☆2024→ Residue 31
NM_012437.6(SNAPIN):c.144-1G>APathogenic
See cases|Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
★☆☆☆2024
NM_012437.6(SNAPIN):c.112C>T (p.Gln38Ter)Pathogenic
See cases|Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
★☆☆☆2024→ Residue 38
View on ClinVar ↗
Related Genes
HPS6Protein interaction100%HPS3Protein interaction100%SYT1Protein interaction100%HPS4Protein interaction99%BLOC1S6Protein interaction99%SNAP25Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Liver
61%
Brain
59%
Ovary
55%
Lung
52%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
SNAPINHPS6HPS3SYT1HPS4BLOC1S6SNAP25
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95295
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.55LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.66–1.55]
RankingsWhere SNAPIN stands among ~20K protein-coding genes
  • #5,969of 20,598
    Most Researched80
  • #3,539of 5,498
    Most Pathogenic Variants5
  • #15,434of 17,882
    Most Constrained (LOEUF)1.55
Genes detectedSNAPIN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Host protein Snapin interacts with human cytomegalovirus pUL130 and affects viral DNA replication.
PMID: 27240978
J Biosci · 2016
1.00
2
Interaction between the human cytomegalovirus‑encoded UL142 and cellular Snapin proteins.
PMID: 25369979
Mol Med Rep · 2015
0.90
3
P38α-MAPK phosphorylates Snapin and reduces Snapin-mediated BACE1 transportation in APP-transgenic mice.
PMID: 34118085
FASEB J · 2021
0.80
4
The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells.
PMID: 19168546
Mol Hum Reprod · 2009
0.70
5
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.
PMID: 40930097
Am J Hum Genet · 2025
0.60