Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synapt... See more...

Aliases for SNAP23 Gene

Aliases for SNAP23 Gene

  • Synaptosome Associated Protein 23 2 3 5
  • Vesicle-Membrane Fusion Protein SNAP-23 3 4
  • Synaptosomal-Associated Protein, 23kDa 2 3
  • Synaptosomal-Associated Protein 23 3 4
  • HsT17016 2 3
  • SNAP-23 3 4
  • SNAP23A 2 3
  • SNAP23B 2 3
  • Synaptosomal-Associated Protein, 23kD 3
  • Synaptosome Associated Protein 23kDa 3
  • SNAP23 5

External Ids for SNAP23 Gene

Previous GeneCards Identifiers for SNAP23 Gene

  • GC15P038155
  • GC15P035683
  • GC15P040366
  • GC15P040503
  • GC15P040575
  • GC15P042787
  • GC15P019635

Summaries for SNAP23 Gene

Entrez Gene Summary for SNAP23 Gene

  • Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNAP23 Gene

SNAP23 (Synaptosome Associated Protein 23) is a Protein Coding gene. Diseases associated with SNAP23 include Tetanus and Hemophagocytic Lymphohistiocytosis. Among its related pathways are Vesicle-mediated transport and Innate Immune System. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNAP receptor activity. An important paralog of this gene is SNAP25.

UniProtKB/Swiss-Prot Summary for SNAP23 Gene

  • Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion.

Gene Wiki entry for SNAP23 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNAP23 Gene

Genomics for SNAP23 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNAP23 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
GH15J042490 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 260.6 +4.3 4341 12.3 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA MNT IKZF1 SMAD5 ETS1 SNAP23 lnc-HAUS2-1 ZNF106 LRRC57 HAUS2 GANC ENSG00000260814 FDPSP4 TUBGCP4 MGA
GH15J043122 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.2 +631.7 631719 1.9 TBP MNT IKZF1 SMAD5 POLR2A BRCA1 BHLHE40 MCM3 SIN3A ZNF395 HSALNG0105473 TMEM62 LRRC57 GANC WDR76 RPS3AP47 ENSG00000261002 CDAN1 VPS39 SNAP23
GH15J042619 Enhancer 0.6 Ensembl ENCODE 10.8 +128.6 128568 1.6 FEZF1 ZBTB12 RUNX3 EZH2 STARD9 HAUS2 LRRC57 SNAP23 GANC TMEM87A piR-57460-199 piR-61945-156 CDAN1
GH15J042621 Enhancer 0.4 Ensembl 10.8 +131.1 131068 0.6 RAD51 ZNF48 ZBTB40 STARD9 HAUS2 LRRC57 SNAP23 GANC TMEM87A piR-57460-199 piR-61945-156 CDAN1
GH15J042461 Enhancer 0.3 ENCODE dbSUPER 11.3 -29.7 -29658 0.4 LRRC57 SNAP23 CAPN3 GANC TMEM87A piR-43105-199 ZNF106
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNAP23 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNAP23

Top Transcription factor binding sites by QIAGEN in the SNAP23 gene promoter:
  • COMP1

Genomic Locations for SNAP23 Gene

Latest Assembly
chr15:42,491,233-42,545,356
(GRCh38/hg38)
Size:
54,124 bases
Orientation:
Plus strand

Previous Assembly
chr15:42,787,832-42,825,256
(GRCh37/hg19 by Entrez Gene)
Size:
37,425 bases
Orientation:
Plus strand

chr15:42,783,431-42,837,547
(GRCh37/hg19 by Ensembl)
Size:
54,117 bases
Orientation:
Plus strand

Genomic View for SNAP23 Gene

Genes around SNAP23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAP23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAP23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAP23 Gene

Proteins for SNAP23 Gene

  • Protein details for SNAP23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00161-SNP23_HUMAN
    Recommended name:
    Synaptosomal-associated protein 23
    Protein Accession:
    O00161
    Secondary Accessions:
    • O00162
    • Q13602
    • Q6IAE3

    Protein attributes for SNAP23 Gene

    Size:
    211 amino acids
    Molecular mass:
    23354 Da
    Quaternary structure:
    • Homotetramer (via coiled-coil domain), also forms heterotetramers with STX4 and VAMP3 (PubMed:12556468). Found in a complex with VAMP8 and STX1A (PubMed:12130530). Found in a complex with VAMP8 and STX4 in pancreas (By similarity). Interacts simultaneously with SNAPIN and SYN4 (By similarity). Interacts with STX1A (By similarity). Interacts with STX12 (By similarity). Interacts tightly to multiple syntaxins and synaptobrevins/VAMPs (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (PubMed:28882895).

    Three dimensional structures from OCA and Proteopedia for SNAP23 Gene

    Alternative splice isoforms for SNAP23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNAP23 Gene

Post-translational modifications for SNAP23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SNAP23 Gene

Domains & Families for SNAP23 Gene

Gene Families for SNAP23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SNAP23 Gene

InterPro:
Blocks:
  • SNAP-25 family
ProtoNet:

Suggested Antigen Peptide Sequences for SNAP23 Gene

GenScript: Design optimal peptide antigens:
  • Synaptosomal-associated protein (A8K287_HUMAN)
  • Vesicle-membrane fusion protein SNAP-23 (SNP23_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00161

UniProtKB/Swiss-Prot:

SNP23_HUMAN :
  • Belongs to the SNAP-25 family.
Family:
  • Belongs to the SNAP-25 family.
genes like me logo Genes that share domains with SNAP23: view

Function for SNAP23 Gene

Molecular function for SNAP23 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion.

Phenotypes From GWAS Catalog for SNAP23 Gene

Gene Ontology (GO) - Molecular Function for SNAP23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA 21873635
GO:0005515 protein binding IPI 12773094
GO:0019905 syntaxin binding IPI 16677249
genes like me logo Genes that share ontologies with SNAP23: view
genes like me logo Genes that share phenotypes with SNAP23: view

Animal Models for SNAP23 Gene

MGI Knock Outs for SNAP23:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNAP23

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNAP23 Gene

Localization for SNAP23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAP23 Gene

Cell membrane. Peripheral membrane protein. Cell membrane. Lipid-anchor. Cell junction, synapse, synaptosome. Note=Mainly localized to the plasma membrane.

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 SNAP23 gene
Compartment Confidence
plasma membrane 5
nucleus 5
lysosome 5
extracellular 4
mitochondrion 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNAP23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 18457912
GO:0005739 mitochondrion IDA 26733245
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction IDA 25468996
genes like me logo Genes that share ontologies with SNAP23: view

Pathways & Interactions for SNAP23 Gene

genes like me logo Genes that share pathways with SNAP23: view

Pathways by source for SNAP23 Gene

3 GeneGo (Thomson Reuters) pathways for SNAP23 Gene
  • Regulation of CFTR activity (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
1 Qiagen pathway for SNAP23 Gene
  • Epithelial Tight Junctions

SIGNOR curated interactions for SNAP23 Gene

Other effect:

Gene Ontology (GO) - Biological Process for SNAP23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002553 histamine secretion by mast cell IMP 18253931
GO:0006887 exocytosis IBA 21873635
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006903 vesicle targeting TAS 8663154
genes like me logo Genes that share ontologies with SNAP23: view

Drugs & Compounds for SNAP23 Gene

(6) Drugs for SNAP23 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SNAP23 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNAP23: view

Transcripts for SNAP23 Gene

mRNA/cDNA for SNAP23 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNAP23

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SNAP23 Gene

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

Relevant External Links for SNAP23 Gene

GeneLoc Exon Structure for
SNAP23

Expression for SNAP23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNAP23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNAP23 Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for SNAP23 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.4) and Platelet (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNAP23 Gene



Protein tissue co-expression partners for SNAP23 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNAP23

SOURCE GeneReport for Unigene cluster for SNAP23 Gene:

Hs.511149

mRNA Expression by UniProt/SwissProt for SNAP23 Gene:

O00161-SNP23_HUMAN
Tissue specificity: Ubiquitous. Highest levels where found in placenta.

Evidence on tissue expression from TISSUES for SNAP23 Gene

  • Blood(4.6)
  • Liver(4.5)
  • Nervous system(3.6)
  • Spleen(2.9)
  • Kidney(2.8)
  • Heart(2.7)
  • Muscle(2.7)
  • Lung(2.7)
  • Intestine(2.6)
  • Lymph node(2.6)
  • Adrenal gland(2.6)
  • Skin(2.4)
  • Pancreas(2.3)
  • Bone marrow(2.2)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with SNAP23: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SNAP23 Gene

Orthologs for SNAP23 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNAP23 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SNAP23 30 31
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNAP23 30 31
  • 91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SNAP23 30 31
  • 89.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Snap23 30 17 31
  • 88.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snap23 30
  • 87.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia SNAP23 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNAP23 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SNAP23 30 31
  • 75.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snap23 30
  • 70.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:56072 30
  • 63.64 (n)
SNAP23 (1 of 2) 31
  • 54 (a)
OneToMany
SNAP23 (2 of 2) 31
  • 38 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta Snap25 31 32
  • 48 (a)
ManyToMany
Snap24 31
  • 45 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y22F5A.3 32
  • 51 (a)
ric-4 31
  • 41 (a)
ManyToMany
aex-4 31
  • 21 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6593 31
  • 57 (a)
OneToMany
Species where no ortholog for SNAP23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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 SNAP23 Gene

ENSEMBL:
Gene Tree for SNAP23 (if available)
TreeFam:
Gene Tree for SNAP23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNAP23: view image

Paralogs for SNAP23 Gene

Paralogs for SNAP23 Gene

(1) SIMAP similar genes for SNAP23 Gene using alignment to 12 proteins:

  • SNP23_HUMAN
  • A8K287_HUMAN
  • H3BM38_HUMAN
  • H3BNE1_HUMAN
  • H3BNG6_HUMAN
  • H3BP15_HUMAN
  • H3BPJ0_HUMAN
  • H3BQY9_HUMAN
  • H3BR18_HUMAN
  • H3BR99_HUMAN
  • H3BU94_HUMAN
  • H3BV99_HUMAN

Pseudogenes.org Pseudogenes for SNAP23 Gene

genes like me logo Genes that share paralogs with SNAP23: view

Variants for SNAP23 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SNAP23 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SNAP23 Gene

Variant ID Type Subtype PubMed ID
esv2761870 CNV loss 21179565
esv3636272 CNV loss 21293372
esv3636274 CNV loss 21293372
nsv1508 CNV insertion 18451855
nsv528725 CNV gain 19592680
nsv832987 CNV gain 17160897

Variation tolerance for SNAP23 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNAP23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAP23

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNAP23 Gene

Disorders for SNAP23 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SNAP23 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
tetanus
  • clostridial tetanus
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
chief cell adenoma
  • chief cell adenoma of parathyroid gland
hemophagocytic lymphohistiocytosis, familial, 4
  • fhl4
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • cednik syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SNAP23

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SNAP23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNAP23 Gene

Publications for SNAP23 Gene

  1. Identification of two isoforms of the vesicle-membrane fusion protein SNAP-23 in human neutrophils and HL-60 cells. (PMID: 9070898) Mollinedo F … Lazo PA (Biochemical and biophysical research communications 1997) 2 3 4 23
  2. Identification of a novel syntaxin- and synaptobrevin/VAMP-binding protein, SNAP-23, expressed in non-neuronal tissues. (PMID: 8663154) Ravichandran V … Roche PA (The Journal of biological chemistry 1996) 2 3 4 23
  3. Homotetrameric structure of the SNAP-23 N-terminal coiled-coil domain. (PMID: 12556468) Freedman SJ … Eck MJ (The Journal of biological chemistry 2003) 3 4 23
  4. Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. (PMID: 11354632) Lazo PA … Estivill X (Human genetics 2001) 3 4 23
  5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41

Products for SNAP23 Gene

Sources for SNAP23 Gene