VAMP2 Chromosome 17
Vesicle associated membrane protein 2
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What This Gene Does
The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Vesicle associated membrane proteins
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000220205
Associated Conditions (3)
Inborn genetic diseases
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Severe neurodevelopmental delay
Key Variants
RS753946523
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1983290330
Likely pathogenic
Health Risk
RS1983317112
Likely pathogenic
Health Risk
RS1983318892
Likely pathogenic
Health Risk
RS2507691218
Likely pathogenic
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Health Risk
RS1289411487
Pathogenic
Health Risk
RS1598265382
Pathogenic
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Health Risk
RS1598265384
Pathogenic
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Health Risk
RS1598265387
Pathogenic
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Health Risk
RS1598265438
Pathogenic
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Health Risk
RS1598265441
Pathogenic
Severe neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Severe neurodevelopmental delay
Health Risk
RS1983361683
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753946523 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1983290330 | Health Risk | Likely pathogenic | — |
| RS1983317112 | Health Risk | Likely pathogenic | — |
| RS1983318892 | Health Risk | Likely pathogenic | — |
| RS2507691218 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements |
| RS1289411487 | Health Risk | Pathogenic | — |
| RS1598265382 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements |
| RS1598265384 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements |
| RS1598265387 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements |
| RS1598265438 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements |
| RS1598265441 | Health Risk | Pathogenic | Severe neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Severe neurodevelopmental delay |
| RS1983361683 | Health Risk | Pathogenic | — |