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 50
  • 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 Tetanus and Type 1 Diabetes Mellitus 13. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and Retrograde transport at the Trans-Golgi-Network. 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 250.7 +0.4 432 2.6 NSF lnc-NSF-1 lnc-LRRC37A2-1 LRRC37A2 WNT3
GH17J046476 Promoter/Enhancer 0.5 EPDnew Ensembl 250.1 -114.8 -114769 3.4 NSF piR-48325-062 LRRC37A2 L13714-207 NSFP1 ARL17B
GH17J046231 Enhancer 0.5 Ensembl 4 -359.0 -358968 0.2 FOXA1 FOXA2 PKNOX1 FOXK2 FOXA3 piR-60445-002 NSF RF00017-2174 KANSL1 HSALNG0116918 LRRC37A
GH17J046611 Enhancer 0.6 Ensembl dbSUPER 0.4 +24.1 24132 10 CBLL2 ZNF366 PRDM1 LRRC37A lnc-LRRC37A2-1 NSF piR-61945-215 LRRC37A2 WNT3
GH17J046595 Enhancer 0.3 Ensembl dbSUPER 0.4 +12.0 12031 1.8 lnc-LRRC37A2-1 NSF LRRC37A2 WNT3
- 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

Latest Assembly
chr17:46,590,669-46,757,464
(GRCh38/hg38)
Size:
166,796 bases
Orientation:
Plus strand

Previous Assembly
chr17:44,668,035-44,834,830
(GRCh37/hg19 by Entrez Gene)
Size:
166,796 bases
Orientation:
Plus strand

chr17:44,668,035-44,834,830
(GRCh37/hg19 by Ensembl)
Size:
166,796 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):1,576,739-1,743,341 (+)
  • chr17(ALT_REF_LOCI_2):1,110,346-1,276,876 (+)

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};

    Three dimensional structures from OCA and Proteopedia for NSF Gene

    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

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

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>

Inhibitory RNAs for research

  • 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 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (2)
See all subcellular structures

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:0005794 Golgi apparatus IDA --
GO:0005795 Golgi stack ISS --
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

Inactivates:
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
Water Approved Pharma 0
1-Ethyl-Pyrrolidine-2,5-Dione Experimental Pharma Target 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
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 :

Inhibitory RNAs for research

  • 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(4.6)
  • Skin(4.2)
  • Lung(3.5)
  • Stomach(3.3)
  • Kidney(3.2)
  • Heart(3.1)
  • Intestine(3.1)
  • Muscle(2.8)
  • Eye(2.5)
  • Adrenal gland(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with NSF: view

Primer products for research

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 29 30
  • 99.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NSF 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NSF 29 30
  • 93.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NSF 29 30
  • 93.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nsf 29 16 30
  • 89.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nsf 29
  • 88.98 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NSF 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NSF 29 30
  • 81.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NSF 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nsf 29
  • 78.59 (n)
Str.20241 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.22246 29
Zebrafish
(Danio rerio)
Actinopterygii nsfb 30
  • 82 (a)
OneToMany
nsfa 29 30
  • 76.29 (n)
OneToMany
wufj33g11 29
Fruit Fly
(Drosophila melanogaster)
Insecta comt 30 31
  • 62 (a)
OneToMany
Nsf2 29 30 31
  • 60.32 (n)
OneToMany
CG31495 30
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012684 29
  • 61.35 (n)
Worm
(Caenorhabditis elegans)
Secernentea nsf-1 29 30
  • 57.98 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER169C 29
  • 52.61 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC18 29 30
  • 52.46 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14520g 29
  • 51.69 (n)
Soybean
(Glycine max)
eudicotyledons Gma.7352 29
Rice
(Oryza sativa)
Liliopsida Os.22280 29
Wheat
(Triticum aestivum)
Liliopsida Ta.10189 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8647 30
  • 55 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec18 29
  • 52.37 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03387 29
  • 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
Alliance of Genome Resources:
Additional Orthologs for NSF

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
rs11537609 Benign: not provided 46,713,956(+) T/C
NM_006178.4(NSF):c.1731T>C (p.Ser577=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs1568034157 Not Provided: not provided 46,694,577(+) C/T
NM_006178.4(NSF):c.1289C>T (p.Ala430Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs155733 -- p.Thr476Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NSF 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 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
Leiden Open Variation Database (LOVD)
NSF

SNP Genotyping and Copy Number Assays for research

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

Disorders for NSF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tetanus
  • clostridial tetanus
type 1 diabetes mellitus 13
  • t1d13
neuronal intranuclear inclusion disease
  • niid
tungiasis
  • chigger flea
syndromic x-linked intellectual disability snyder type
  • mental retardation, x-linked, snyder-robinson type
- 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

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 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 22
  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 40
  3. NSF independent fusion of Salmonella-containing late phagosomes with early endosomes. (PMID: 20176016) Parashuraman S … Mukhopadhyay A (FEBS letters 2010) 3 22
  4. 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 40
  5. 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 40

Products for NSF Gene

Sources for NSF Gene