Aliases for NSF Gene

Aliases for NSF Gene

  • N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase 2 3 5
  • N-Ethylmaleimide-Sensitive Factor-Like Protein 2 3
  • N-Ethylmaleimide-Sensitive Fusion Protein 3 4
  • NEM-Sensitive Fusion Protein 3 4
  • Vesicular-Fusion Protein NSF 3 4
  • Vesicle-Fusing ATPase 3 4
  • EC 3.6.4.6 4 51
  • SEC18 2 3
  • SKD2 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • N-Ethylmaleimide-Sensitive Factor 2
  • N-Ethylmaleimide Sensitive Factor 2
  • NSF 5

External Ids for NSF Gene

Previous GeneCards Identifiers for NSF Gene

  • GC17P044205
  • GC17P047067
  • GC17P045050
  • GC17P045143
  • GC17P041805
  • GC17P042024
  • GC17P044668
  • GC17P040092

Summaries for NSF Gene

GeneCards Summary for NSF Gene

NSF (N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase) is a Protein Coding gene. Diseases associated with NSF include Foodborne Botulism and Tetanus. Among its related pathways are Neuroscience and Intra-Golgi traffic. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot Summary for NSF Gene

  • Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity).

Gene Wiki entry for NSF Gene

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

Genomics for NSF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NSF 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
GH17J046590 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 600.7 +0.4 432 2.6 NSF lnc-NSF-1 lnc-LRRC37A2-1 LRRC37A2 WNT3
GH17J046476 Promoter/Enhancer 0.5 EPDnew Ensembl 600.1 -114.8 -114769 3.4 NSF piR-48325-062 LRRC37A2 L13714-205 NSFP1 ARL17B
GH17J046595 Enhancer 0.9 Ensembl dbSUPER 0.4 +9.7 9731 6.4 ATF7 PRDM10 ZNF629 ZNF692 IKZF2 ZNF239 ZNF600 ZBTB44 ZNF639 ZXDB lnc-LRRC37A2-1 NSF LRRC37A2 WNT3
GH17J046611 Enhancer 0.4 Ensembl 0.4 +21.1 21132 4 PRDM1 ZNF366 CBLL2 LRRC37A lnc-LRRC37A2-1 NSF piR-61945-215 LRRC37A2 WNT3
GH17J046769 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas 0.1 +180.9 180916 3.2 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ KDM1A ZNF692 RCOR2 KANSL1-AS1 ENSG00000262539 ARL17A MRPL45P2 ENSG00000262372 EFCAB13 RPS7P11 WNT3 KANSL1 ENSG00000253347
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the NSF gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • POU2F1
  • POU2F1a
  • POU2F1b

Genomic Locations for NSF Gene

Genomic Locations for NSF Gene
chr17:46,590,669-46,757,464
(GRCh38/hg38)
Size:
166,796 bases
Orientation:
Plus strand
chr17:44,668,035-44,834,830
(GRCh37/hg19)
Size:
166,796 bases
Orientation:
Plus strand

Genomic View for NSF Gene

Genes around NSF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NSF Gene

Proteins for NSF Gene

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

    Protein Symbol:
    P46459-NSF_HUMAN
    Recommended name:
    Vesicle-fusing ATPase
    Protein Accession:
    P46459
    Secondary Accessions:
    • A8K2D9
    • B4DFA2
    • Q8N6D7
    • Q9UKZ2

    Protein attributes for NSF Gene

    Size:
    744 amino acids
    Molecular mass:
    82594 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homohexamer. Interacts with GABARAP and GABARAPL2. Interacts with GRIA2. Interacts with PLK2, leading to disrupt the interaction with GRIA2. Interacts with MUSK; may regulate MUSK endocytosis and activity (By similarity). Interacts with CDK16 (By similarity).
    SequenceCaution:
    • Sequence=AAA17411.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NSF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSF Gene

Selected DME Specific Peptides for NSF Gene

P46459:
  • IIFDEIDAICK
  • KHVKGILLYGPPG
  • FEKAENS
  • ARQIGKMLN
  • LNNILVIGMTNR
  • QALLVLL
  • SIINPDW
  • RKLFADAEEE
  • YVPIGPRFSNL
  • TKNFSGAELEGLVRAAQS
  • KLFGLLVKDIEAMDPSILKGEPA
  • FDKAKQCIGTMTIEIDFLQKK
  • KMGIGGLDKEF
  • KIFDDAY
  • IHTARMR
  • MLNAREPK
  • DEALLRPGRLEV

Post-translational modifications for NSF Gene

  • Phosphorylation at Ser-569 interferes with homohexamerization.
  • Ubiquitination at Lys555
  • Modification sites at PhosphoSitePlus

Other Protein References for NSF Gene

Domains & Families for NSF Gene

Gene Families for NSF Gene

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

Protein Domains for NSF Gene

InterPro:
Blocks:
  • AAA-protein subdomain
  • AAA ATPase VAT, N-terminal
  • Cell division protein 48, CDC48, domain 2
ProtoNet:

Suggested Antigen Peptide Sequences for NSF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59316, highly similar to Vesicle-fusing ATPase (EC 3.6.4.6) (B4DFA2_HUMAN)
  • N-ethylmaleimide-sensitive factor, isoform CRA_a (D3DXJ4_HUMAN)
  • Vesicular-fusion protein NSF (NSF_HUMAN)
  • NSF protein (Q96D47_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46459

UniProtKB/Swiss-Prot:

NSF_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with NSF: view

Function for NSF Gene

Molecular function for NSF Gene

UniProtKB/Swiss-Prot Function:
Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.6;.
GENATLAS Biochemistry:
N-ethylmaleimide sensitive factor

Enzyme Numbers (IUBMB) for NSF Gene

Phenotypes From GWAS Catalog for NSF Gene

Gene Ontology (GO) - Molecular Function for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding ISS --
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15322554
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NSF: view
genes like me logo Genes that share phenotypes with NSF: view

Animal Models for NSF Gene

MGI Knock Outs for NSF:
  • Nsf Nsf<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NSF Gene

Localization for NSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSF Gene

Cytoplasm.

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005795 Golgi stack ISS --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with NSF: view

Pathways & Interactions for NSF Gene

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

Pathways by source for NSF Gene

3 GeneGo (Thomson Reuters) pathways for NSF Gene
  • Delta508-CFTR traffic / Sorting endosome formation in CF
  • Normal wtCFTR traffic / Sorting endosome formation
  • Transport Clathrin-coated vesicle cycle
2 Cell Signaling Technology pathways for NSF Gene

SIGNOR curated interactions for NSF Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IDA 15613468
GO:0006813 potassium ion transport IEA --
GO:0006886 intracellular protein transport IMP 22045810
GO:0006887 exocytosis TAS 15613468
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
genes like me logo Genes that share ontologies with NSF: view

Drugs & Compounds for NSF Gene

(19) Drugs for NSF Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
1-Ethyl-Pyrrolidine-2,5-Dione Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(9) Additional Compounds for NSF Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with NSF: view

Transcripts for NSF Gene

mRNA/cDNA for NSF Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for NSF Gene

GeneLoc Exon Structure for
NSF

Expression for NSF Gene

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

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.2) and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for NSF Gene

This gene is overexpressed in Frontal cortex (17.2), Brain (13.4), and Retina (6.2).

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



Protein tissue co-expression partners for NSF Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for NSF Gene:

Hs.431279

Evidence on tissue expression from TISSUES for NSF Gene

  • Nervous system(5)
  • Liver(4.7)
  • Skin(4.3)
  • Lung(3.7)
  • Stomach(3.6)
  • Kidney(3.6)
  • Heart(3.5)
  • Intestine(3.4)
  • Muscle(3.4)
  • Adrenal gland(3.1)
  • Eye(3)
  • Pancreas(2.9)
  • Blood(2.8)
  • Spleen(2.4)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with NSF: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSF Gene

Orthologs for NSF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NSF 30 31
  • 99.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NSF 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NSF 30 31
  • 93.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NSF 30 31
  • 93.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nsf 30 17 31
  • 89.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nsf 30
  • 88.98 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NSF 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NSF 30 31
  • 81.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NSF 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nsf 30
  • 78.59 (n)
Str.20241 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22246 30
Zebrafish
(Danio rerio)
Actinopterygii nsfb 31
  • 82 (a)
OneToMany
nsfa 30 31
  • 76.29 (n)
OneToMany
wufj33g11 30
Fruit Fly
(Drosophila melanogaster)
Insecta comt 31 32
  • 62 (a)
OneToMany
Nsf2 30 31 32
  • 60.32 (n)
OneToMany
CG31495 31
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012684 30
  • 61.35 (n)
Worm
(Caenorhabditis elegans)
Secernentea nsf-1 30 31
  • 57.98 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER169C 30
  • 52.61 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC18 30 31
  • 52.46 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14520g 30
  • 51.69 (n)
Soybean
(Glycine max)
eudicotyledons Gma.7352 30
Rice
(Oryza sativa)
Liliopsida Os.22280 30
Wheat
(Triticum aestivum)
Liliopsida Ta.10189 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8647 31
  • 55 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec18 30
  • 52.37 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03387 30
  • 51.9 (n)
Species where no ortholog for NSF was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NSF Gene

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

Paralogs for NSF Gene

(4) SIMAP similar genes for NSF Gene using alignment to 10 proteins:

  • NSF_HUMAN
  • B4DFA2_HUMAN
  • D3DXJ4_HUMAN
  • I3L0L3_HUMAN
  • I3L0N3_HUMAN
  • I3L2G1_HUMAN
  • I3L338_HUMAN
  • I3L4Q9_HUMAN
  • K7EQD6_HUMAN
  • Q96D47_HUMAN

Pseudogenes.org Pseudogenes for NSF Gene

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

No data available for Paralogs for NSF Gene

Variants for NSF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSF Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
775110 Benign: not provided 46,713,956(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1568034157 Not Provided: not provided 46,694,577(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs155733 - p.Thr476Met

Additional dbSNP identifiers (rs#s) for NSF Gene

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

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv16n14 CNV loss 18776910
dgv29e213 CNV loss 24956385
dgv30e213 CNV gain 24956385
dgv3188n100 CNV gain 25217958
dgv3190n100 CNV gain 25217958
dgv3196n100 CNV gain+loss 25217958
dgv3198n100 CNV loss 25217958
dgv3233n100 CNV gain 25217958
dgv3241n100 CNV loss 25217958
dgv3248n100 CNV loss 25217958
dgv3249n100 CNV gain 25217958
dgv3250n100 CNV gain+loss 25217958
dgv3251n100 CNV loss 25217958
dgv3253n100 CNV loss 25217958
dgv3254n100 CNV gain+loss 25217958
dgv3255n100 CNV gain 25217958
dgv3256n100 CNV loss 25217958
dgv3257n100 CNV loss 25217958
dgv3258n100 CNV gain+loss 25217958
dgv3259n100 CNV loss 25217958
dgv3260n100 CNV loss 25217958
dgv5628n54 CNV loss 21841781
dgv5644n54 CNV gain 21841781
dgv5647n54 CNV loss 21841781
dgv5648n54 CNV gain+loss 21841781
dgv5651n54 CNV loss 21841781
dgv5657n54 CNV loss 21841781
dgv5658n54 CNV loss 21841781
dgv5659n54 CNV loss 21841781
dgv5660n54 CNV gain+loss 21841781
dgv5661n54 CNV loss 21841781
dgv5662n54 CNV gain 21841781
dgv5663n54 CNV gain 21841781
dgv5664n54 CNV loss 21841781
dgv5665n54 CNV gain 21841781
dgv5666n54 CNV gain 21841781
dgv5667n54 CNV loss 21841781
dgv939e212 CNV gain 25503493
dgv940e212 CNV loss 25503493
esv1003686 CNV gain 20482838
esv21783 CNV gain+loss 19812545
esv2656635 CNV deletion 23128226
esv2758692 CNV gain+loss 17122850
esv2760451 CNV gain+loss 21179565
esv2762433 CNV gain+loss 21179565
esv33048 CNV gain+loss 17666407
esv3893019 CNV gain+loss 25118596
esv3893020 CNV gain 25118596
esv3893021 CNV gain 25118596
esv3893023 CNV gain+loss 25118596
esv3893024 CNV gain 25118596
nsv1070410 CNV deletion 25765185
nsv1126463 CNV deletion 24896259
nsv1133408 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1160494 CNV deletion 26073780
nsv428343 CNV gain+loss 18775914
nsv433451 CNV gain 18776910
nsv442749 CNV gain+loss 18776908
nsv469644 CNV gain+loss 16826518
nsv471402 CNV gain 19718026
nsv471514 CNV gain 19718026
nsv471700 CNV gain+loss 15918152
nsv483083 CNV gain 15286789
nsv510715 CNV deletion 20534489
nsv516807 CNV gain+loss 19592680
nsv575266 CNV gain 21841781
nsv575387 CNV gain+loss 21841781
nsv575388 CNV gain 21841781
nsv575389 CNV loss 21841781
nsv575421 CNV gain+loss 21841781
nsv820933 CNV deletion 20802225
nsv821687 CNV gain 15273396
nsv833464 CNV gain 17160897
nsv833465 CNV loss 17160897
nsv9564 CNV gain+loss 18304495
nsv960496 CNV duplication 23825009
nsv978553 CNV duplication 23825009

Variation tolerance for NSF Gene

Gene Damage Index Score: 0.49; 10.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NSF Gene

MalaCards: The human disease database

(14) MalaCards diseases for NSF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
foodborne botulism
  • wound botulism
tetanus
  • clostridial tetanus
wound botulism
  • cutaneous infectious botulism
infant botulism
  • infant intestinal botulism
intestinal botulism
  • intestinal colonization botulism
- elite association - COSMIC cancer census association via MalaCards
Search NSF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NSF

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

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

Publications for NSF Gene

  1. A multisubunit particle implicated in membrane fusion. (PMID: 1315316) Wilson DW … Rothman JE (The Journal of cell biology 1992) 2 3 23
  2. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. (PMID: 21812969) Liu X … Lee JH (BMC medical genetics 2011) 3 41
  3. NSF independent fusion of Salmonella-containing late phagosomes with early endosomes. (PMID: 20176016) Parashuraman S … Mukhopadhyay A (FEBS letters 2010) 3 23
  4. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 41

Products for NSF Gene

  • Signalway ELISA kits for NSF

Sources for NSF Gene