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Aliases for SNAP25 Gene

Aliases for SNAP25 Gene

  • Synaptosome Associated Protein 25 2 3 5
  • Resistance To Inhibitors Of Cholinesterase 4 Homolog 2 3
  • Synaptosomal-Associated Protein, 25kDa 2 3
  • SNAP-25 3 4
  • SNAP 3 4
  • SUP 3 4
  • Synaptosomal-Associated 25 KDa Protein 4
  • Synaptosome Associated Protein 25kDa 3
  • Synaptosomal-Associated Protein 25 3
  • Super Protein 4
  • DJ1068F16.2 3
  • BA416N4.2 3
  • CMS18 3
  • RIC-4 3
  • RIC4 3
  • SEC9 3

External Ids for SNAP25 Gene

Previous HGNC Symbols for SNAP25 Gene

  • SNAP

Previous GeneCards Identifiers for SNAP25 Gene

  • GC20P010187
  • GC20P010194
  • GC20P010147
  • GC20P010199
  • GC20P010151

Summaries for SNAP25 Gene

Entrez Gene Summary for SNAP25 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 complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNAP25 Gene

SNAP25 (Synaptosome Associated Protein 25) is a Protein Coding gene. Diseases associated with SNAP25 include Myasthenic Syndrome, Congenital, 18 and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Neurotransmitter Release Cycle and Uptake and actions of bacterial toxins. Gene Ontology (GO) annotations related to this gene include calcium-dependent protein binding and SNAP receptor activity. An important paralog of this gene is SNAP23.

UniProtKB/Swiss-Prot for SNAP25 Gene

  • 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 plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.

Gene Wiki entry for SNAP25 Gene

Additional gene information for SNAP25 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNAP25 Gene

Genomics for SNAP25 Gene

GeneHancer (GH) Regulatory Elements for SNAP25 Gene

Promoters and enhancers for SNAP25 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J010215 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 656.8 -0.9 -916 4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 SNAP25 ENSG00000232448 SNAP25-AS1
GH20J010224 Promoter 0.6 EPDnew 650.4 +5.4 5446 0.1 ATF4 SNAP25 GC20M010223 GC20M010220 GC20P010311 SNAP25-AS1
GH20J010418 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 4.9 +200.9 200931 2.5 JUN CEBPG ZNF644 FOSL1 GATA3 POLR2A PRDM10 FOSL2 FOS MAFK MKKS SNAP25 ENSG00000285508 GC20M010401
GH20J010555 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.6 +339.1 339098 4.6 PKNOX1 FOXA2 SMAD1 ARID4B IRF4 ETS1 SLC30A9 ATF7 FOS RUNX3 JAG1 MKKS SNAP25 GC20P010506 LOC100421490 SLX4IP
GH20J010185 Enhancer 0.7 ENCODE 8.3 -32.5 -32518 1.2 ELF3 FOXA2 MAX RARA YY1 TCF12 EGR1 FOS MAFK HMG20B SNAP25 ENSG00000232448 LOC105372524 ENSG00000230506 SNAP25-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNAP25 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNAP25 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • p53

Genomic Locations for SNAP25 Gene

Genomic Locations for SNAP25 Gene
chr20:10,218,829-10,307,420
(GRCh38/hg38)
Size:
88,592 bases
Orientation:
Plus strand
chr20:10,199,477-10,288,066
(GRCh37/hg19)
Size:
88,590 bases
Orientation:
Plus strand

Genomic View for SNAP25 Gene

Genes around SNAP25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAP25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAP25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAP25 Gene

Proteins for SNAP25 Gene

  • Protein details for SNAP25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60880-SNP25_HUMAN
    Recommended name:
    Synaptosomal-associated protein 25
    Protein Accession:
    P60880
    Secondary Accessions:
    • B2RAU4
    • D3DW16
    • D3DW17
    • P13795
    • P36974
    • P70557
    • P70558
    • Q53EM2
    • Q5U0B5
    • Q8IXK3
    • Q96FM2
    • Q9BR45

    Protein attributes for SNAP25 Gene

    Size:
    206 amino acids
    Molecular mass:
    23315 Da
    Quaternary structure:
    • Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A; this complex binds CPLX1 (PubMed:11832227). Found in a complex containing SYT1, SV2B and syntaxin-1 (By similarity). Found in a ternary complex with STX1A and VAMP8 (By similarity). Isoform 1 and isoform 2 interact with BLOC1S6 (PubMed:19546860). Interacts with CENPF (By similarity). Interacts with EQTN (By similarity). Interacts with HGS (By similarity). Interacts with KCNB1 (via N-terminus); reduces the voltage-dependent potassium channel KCNB1 activity in pancreatic beta cells (By similarity). Interacts with OTOF (By similarity). Interacts with RIMS1 (By similarity). Interacts with SNAPIN (By similarity). Interacts with STXBP6 (By similarity). Interacts with TRIM9 (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (PubMed:28882895, PubMed:28757145). Interacts with PLCL1 (via C2 domain) (By similarity). Associates with the BLOC-1 complex (PubMed:19546860). Interacts with PRRT2; this interaction may impair the formation of the SNARE complex (PubMed:22832103, PubMed:25915028).
    Miscellaneous:
    • When cloned and expressed in Eschericia coli, where protein palmitoylation does not occur, Cys-85, Cys-88, Cys-90 and Cys-92 in the protein sequence readily form an iron-sulfur cluster instead.

    Three dimensional structures from OCA and Proteopedia for SNAP25 Gene

    Alternative splice isoforms for SNAP25 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNAP25 Gene

Post-translational modifications for SNAP25 Gene

  • Palmitoylated (PubMed:28757145). Cys-85 appears to be the main site, and palmitoylation is required for membrane association (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SNAP25

No data available for DME Specific Peptides for SNAP25 Gene

Domains & Families for SNAP25 Gene

Gene Families for SNAP25 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SNAP25 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNAP25 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60880

UniProtKB/Swiss-Prot:

SNP25_HUMAN :
  • Belongs to the SNAP-25 family.
Family:
  • Belongs to the SNAP-25 family.
genes like me logo Genes that share domains with SNAP25: view

Function for SNAP25 Gene

Molecular function for SNAP25 Gene

UniProtKB/Swiss-Prot 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 plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.
GENATLAS Biochemistry:
synaptosomal-associated protein 1,25kDa,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein,palmitoylated in vivo for the binding to syntaxin

Phenotypes From GWAS Catalog for SNAP25 Gene

Gene Ontology (GO) - Molecular Function for SNAP25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA --
GO:0005515 protein binding IPI 8692999
GO:0017075 syntaxin-1 binding IPI 12730201
GO:0019905 syntaxin binding IBA --
GO:0048306 calcium-dependent protein binding ISS --
genes like me logo Genes that share ontologies with SNAP25: view
genes like me logo Genes that share phenotypes with SNAP25: view

Human Phenotype Ontology for SNAP25 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNAP25 Gene

MGI Knock Outs for SNAP25:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNAP25 Gene

Localization for SNAP25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAP25 Gene

Cytoplasm, perinuclear region. Cell membrane; Lipid-anchor. Cell junction, synapse, synaptosome. Note=Membrane association requires palmitoylation. Expressed throughout cytoplasm, concentrating at the perinuclear region. Colocalizes with KCNB1 at the cell membrane. {ECO:0000250 UniProtKB:P60879, ECO:0000250 UniProtKB:P60881}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNAP25 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
cytoskeleton 3
nucleus 3
extracellular 2
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for SNAP25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005802 trans-Golgi network IEA --
GO:0005829 cytosol TAS,IDA --
GO:0005856 cytoskeleton IDA 24327345
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with SNAP25: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNAP25 Gene

Pathways & Interactions for SNAP25 Gene

genes like me logo Genes that share pathways with SNAP25: view

SIGNOR curated interactions for SNAP25 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SNAP25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake NAS 8760387
GO:0006887 exocytosis IBA --
GO:0006906 vesicle fusion IBA --
GO:0007268 chemical synaptic transmission NAS 8760387
GO:0007269 neurotransmitter secretion TAS --
genes like me logo Genes that share ontologies with SNAP25: view

Drugs & Compounds for SNAP25 Gene

(17) Drugs for SNAP25 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Botulinum Toxin Type A Approved, Investigational Pharma inhibitor, Target 0

(12) Additional Compounds for SNAP25 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with SNAP25: view

Transcripts for SNAP25 Gene

Unigene Clusters for SNAP25 Gene

Synaptosomal-associated protein, 25kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNAP25 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: -
SP11:

Relevant External Links for SNAP25 Gene

GeneLoc Exon Structure for
SNAP25
ECgene alternative splicing isoforms for
SNAP25

Expression for SNAP25 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNAP25 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNAP25 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.1), Brain - Cerebellar Hemisphere (x8.0), Brain - Anterior cingulate cortex (BA24) (x6.6), Brain - Cerebellum (x4.4), Brain - Amygdala (x4.3), Brain - Hippocampus (x4.3), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for SNAP25 Gene

This gene is overexpressed in Brain (35.0) and Frontal cortex (27.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNAP25 Gene



Protein tissue co-expression partners for SNAP25 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNAP25 Gene:

SNAP25

SOURCE GeneReport for Unigene cluster for SNAP25 Gene:

Hs.167317

mRNA Expression by UniProt/SwissProt for SNAP25 Gene:

P60880-SNP25_HUMAN
Tissue specificity: Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.

Evidence on tissue expression from TISSUES for SNAP25 Gene

  • Nervous system(5)
  • Kidney(4.7)
  • Eye(4.6)
  • Muscle(4.2)
  • Adrenal gland(3)
  • Pancreas(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNAP25 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with SNAP25: view

Orthologs for SNAP25 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNAP25 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia SNAP25 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNAP25 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNAP25 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNAP25 34 33
  • 97.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SNAP25 34 33
  • 96.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Snap25 16 34 33
  • 95.15 (n)
rat
(Rattus norvegicus)
Mammalia Snap25 33
  • 94.66 (n)
chicken
(Gallus gallus)
Aves SNAP25 34 33
  • 90.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNAP25 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snap25 33
  • 87.7 (n)
Str.15491 33
African clawed frog
(Xenopus laevis)
Amphibia snap25-prov 33
zebrafish
(Danio rerio)
Actinopterygii snap25b 34
  • 90 (a)
OneToMany
snap25a 34 33 33
  • 84.15 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Snap24 34 35 33
  • 64.2 (n)
ManyToMany
Snap25 34 35
  • 57 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y22F5A.3 35
  • 53 (a)
ric-4 34
  • 46 (a)
ManyToMany
aex-4 34
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6593 34
  • 65 (a)
OneToMany
Cin.8011 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8011 33
Species where no ortholog for SNAP25 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNAP25 Gene

ENSEMBL:
Gene Tree for SNAP25 (if available)
TreeFam:
Gene Tree for SNAP25 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNAP25: view image

Paralogs for SNAP25 Gene

Paralogs for SNAP25 Gene

(1) SIMAP similar genes for SNAP25 Gene using alignment to 1 proteins:

  • SNP25_HUMAN
genes like me logo Genes that share paralogs with SNAP25: view

Variants for SNAP25 Gene

Sequence variations from dbSNP and Humsavar for SNAP25 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs375161376 likely-benign, Myasthenic syndrome, congenital, 18 10,299,421(+) G/A genic_downstream_transcript_variant, intron_variant
rs377498338 likely-benign, Myasthenic syndrome, congenital, 18 10,297,009(+) C/T coding_sequence_variant, synonymous_variant
rs79020892 benign, Myasthenic syndrome, congenital, 18 10,306,125(+) C/T genic_downstream_transcript_variant, intron_variant
rs797044873 likely-pathogenic, Inborn genetic diseases 10,284,751(+) G/T coding_sequence_variant, missense_variant
VAR_073698 Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] p.Ile67Asn

Structural Variations from Database of Genomic Variants (DGV) for SNAP25 Gene

Variant ID Type Subtype PubMed ID
esv2674016 CNV deletion 23128226
esv3556820 CNV deletion 23714750
esv3645205 CNV loss 21293372
esv3645206 CNV loss 21293372
nsv3290 CNV insertion 18451855
nsv522874 CNV loss 19592680
nsv828687 CNV loss 20364138
nsv833919 CNV gain 17160897
nsv952985 CNV deletion 24416366

Variation tolerance for SNAP25 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNAP25 Gene

Human Gene Mutation Database (HGMD)
SNAP25
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAP25

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNAP25 Gene

Disorders for SNAP25 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SNAP25 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 18
  • cms18
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
foodborne botulism
  • wound botulism
tetanus
  • clostridial tetanus
infant botulism
  • infant intestinal botulism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNP25_HUMAN
  • Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia. {ECO:0000269 PubMed:25381298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SNAP25

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SNAP25: view

No data available for Genatlas for SNAP25 Gene

Publications for SNAP25 Gene

  1. Evidence that putative ADHD low risk alleles at SNAP25 may increase the risk of schizophrenia. (PMID: 19132710) Carroll LS … Williams NM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
  2. Associations of SNAP-25 polymorphisms with cognitive dysfunctions in Caucasian patients with schizophrenia during a brief trail of treatment with atypical antipsychotics. (PMID: 18347838) Spellmann I … Riedel M (European archives of psychiatry and clinical neuroscience 2008) 3 22 44 58
  3. No association between tagging SNPs of SNARE complex genes (STX1A, VAMP2 and SNAP25) and schizophrenia in a Japanese population. (PMID: 18512733) Kawashima K … Iwata N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 44 58
  4. SNAP-25 genotype influences NAA/Cho in left hippocampus. (PMID: 18726138) Scherk H … Gruber O (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 22 44 58
  5. [Association between SNAP-25 gene polymorphism and attention deficit hyperactivity disorder]. (PMID: 19099826) Zhang HY … Chen JC (Zhonghua er ke za zhi = Chinese journal of pediatrics 2008) 3 22 44 58

Products for SNAP25 Gene

Sources for SNAP25 Gene

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