Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6616
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptosome associated protein 25
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNAP25
Synonyms (NCBI Gene) Gene synonyms aliases
CMS18, DEE117, RIC-4, RIC4, SEC9, SNAP, SNAP-25, SUP, bA416N4.2, dJ1068F16.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS18
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
SP1 Unknown 18194215
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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 21873635
GO:0005515 Function Protein binding IPI 8692999, 11438518, 15603740, 26635000
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600322 11132 ENSG00000132639
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Myasthenic syndrome Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 18 rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922
View all (237 more)
25792100, 25381298, 30914295, 27472506
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
16123366
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Mental depression Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic 19679075, 14708030 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Myasthenic Syndrome congenital myasthenic syndrome 18, presynaptic congenital myasthenic syndrome GenCC
Associations from Text Mining
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