Gene Gene information from NCBI Gene database.
Entrez ID 6616
Gene name Synaptosome associated protein 25
Gene symbol SNAP25
Synonyms (NCBI Gene)
CMS18DEE117RIC-4RIC4SEC9SNAPSNAP-25SUPbA416N4.2dJ1068F16.2
Chromosome 20
Chromosome location 20p12.2
Summary Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE comple
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs797044873 G>T Likely-pathogenic Missense variant, coding sequence variant
rs1555794286 T>A Pathogenic Intron variant, coding sequence variant, missense variant
rs1600807788 G>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT438002 hsa-miR-641 Luciferase reporter assay 24391914
MIRT438002 hsa-miR-641 Luciferase reporter assay 24391914
MIRT438002 hsa-miR-641 Luciferase reporter assay 24391914
MIRT438002 hsa-miR-641 Luciferase reporter assay 24391914
MIRT438002 hsa-miR-641 Luciferase reporter assay 24391914
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 18194215
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IEA
GO:0001504 Process Neurotransmitter uptake NAS 8760387
GO:0001917 Component Photoreceptor inner segment IEA
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005484 Function SNAP receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600322 11132 ENSG00000132639
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60880
Protein name Synaptosomal-associated protein 25 (SNAP-25) (Super protein) (SUP) (Synaptosomal-associated 25 kDa protein)
Protein function t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasm
PDB 1KIL , 1XTG , 2N1T , 3DDA , 3DDB , 3RK2 , 3RK3 , 3RL0 , 3ZUR , 5W7I , 5W7J , 6JLH , 8BAN , 8BAV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00835 SNAP-25 91 141 SNAP-25 family Family
Tissue specificity TISSUE SPECIFICITY: Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.
Sequence
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERI
EEGMDQINKDMKEAEKNLTDLGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARV
VDEREQMAISGGFIRRVTNDA
RENEMDENLEQVSGIIGNLRHMALDMGNEIDTQNRQIDR
IMEKADSNKTRIDEANQRATKMLGSG
Sequence length 206
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Synaptic vesicle cycle
Insulin secretion
  Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Other interleukin signaling
Toxicity of botulinum toxin type A (BoNT/A)
Toxicity of botulinum toxin type C (BoNT/C)
Toxicity of botulinum toxin type E (BoNT/E)
Neutrophil degranulation
GABA synthesis, release, reuptake and degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
227
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myasthenic syndrome 18 Likely pathogenic; Pathogenic rs2064355563, rs2123063830, rs2123120544, rs2123159234, rs2123159470, rs2123120184, rs2514853451, rs2514785213, rs1555794286, rs2514853517, rs2514853315, rs2514853554, rs1600807788, rs2064355122 RCV001377079
RCV005414276
RCV005414277
RCV005414278
RCV005414279
RCV002249176
RCV002294544
RCV003033870
RCV000170319
RCV003751803
RCV003752065
RCV004551167
RCV000990282
RCV001267654
Developmental and epileptic encephalopathy Likely pathogenic; Pathogenic rs2064355563, rs2123063802, rs2123063830, rs2123063984, rs2123120184, rs2123120544, rs2123159234, rs2123159261, rs2123159524, rs2123205099, rs2123205311, rs2123003858, rs2123019421, rs2123159470, rs797044873
View all (2 more)
RCV001706731
RCV001706735
RCV001706873
RCV001706874
RCV001706875
RCV001706878
RCV001706879
RCV001706880
RCV001706881
RCV001706882
RCV001706883
RCV001706884
RCV001706885
RCV001706886
RCV001706164
RCV001706282
RCV001706728
Developmental and epileptic encephalopathy, 2 Pathogenic rs2123205311 RCV002286496
Epilepsy with generalized tonic-clonic seizures Likely pathogenic rs797044873 RCV000190683
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Likely benign rs79292749 RCV005920655
Microcephaly Conflicting classifications of pathogenicity rs2123205373 RCV002468640
Nonpapillary renal cell carcinoma Likely benign rs79292749 RCV005920654
Optic atrophy Conflicting classifications of pathogenicity rs2123205373 RCV002468640
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30846386, 36807763
Alzheimer Disease Associate 18194215, 26395074, 30342961, 30846386, 33765432, 36807763, 39650656, 40613333
Alzheimer Disease Inhibit 32776690, 36129947
Antisocial Personality Disorder Associate 21756448
Ataxia Associate 36379720
Atrophy Associate 22832958
Attention Deficit Disorder with Hyperactivity Associate 18194215, 20679152, 21756448, 22562805, 22773342, 27338073, 31426340, 36068994, 37285328
Autism Spectrum Disorder Associate 32661233, 37762342
Autistic Disorder Associate 37762342
Bipolar Disorder Associate 19125158, 28525603