Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
NEDHAHM
Chr 17ADvesicle associated membrane protein 2
Also known as: NEDHAHM, SYB2, VAMP-2
The protein encoded by this gene is a synaptobrevin/VAMP family member that participates in neurotransmitter release by facilitating synaptic vesicle docking and fusion with the presynaptic membrane. Mutations cause a neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, inherited in an autosomal dominant pattern. The disorder primarily affects the nervous system with early developmental manifestations including motor and behavioral symptoms.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHAHM?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDHAHM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for NEDHAHM
External Resources
Links to major genomics databases and tools