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Gene

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 46,590,669–46,757,464 (GRCh38)
Exons
21 exons across 166.8 kb
Protein
744 amino acids
Also known as
SKD2, SEC18
MANE Select transcript
ENST00000398238.8NM_006178.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads NSF yet. The test sequences your whole genome, so your data includes it all the same.

How NSF is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where NSF sits. NSF and 11 genes near it on chromosome 17, from 46,174,067 to 47,174,066.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.346.2 Mb46.4 Mb46.6 Mb46.8 Mb47 MbKANSL1: 46,029,916–46,225,389, reverse strandKANSL1ARL17B: 46,271,629–46,361,793, reverse strandARL17BLRRC37A: 46,292,733–46,338,077, forward strandLRRC37AARL17A: 46,431,431–46,579,725, reverse strandARL17ALRRC37A2: 46,511,508–46,556,910, forward strandLRRC37A2NSF: 46,590,669–46,757,464, forward strandNSFWNT3: 46,762,493–46,833,154, reverse strandWNT3WNT9B: 46,833,201–46,886,730, forward strandWNT9BGOSR2: 46,923,075–46,975,524, forward strandGOSR2: 46,923,133–47,049,932, forward strandRPRML: 46,978,156–46,979,253, reverse strandRPRMLCDC27: 47,117,703–47,189,422, reverse strandCDC27Diagram of NSF: 21 exons on the forward strand of chromosome 17Exon 8: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 1: 46,590,669–46,590,787, 119 basesExon 2: 46,624,244–46,624,329, 86 basesExon 3: 46,626,613–46,626,712, 100 basesExon 4: 46,630,411–46,630,450, 40 basesExon 5: 46,637,376–46,637,542, 167 basesExon 6: 46,640,054–46,640,161, 108 basesExon 7: 46,640,643–46,640,718, 76 basesExon 8: 46,643,104–46,643,259, 156 basesExon 9: 46,674,414–46,674,613, 200 basesExon 10: 46,692,903–46,693,068, 166 basesExon 11: 46,693,847–46,693,921, 75 basesExon 12: 46,694,475–46,694,662, 188 basesExon 13: 46,704,759–46,704,854, 96 basesExon 14: 46,710,963–46,711,119, 157 basesExon 15: 46,713,853–46,713,986, 134 basesExon 16: 46,726,549–46,726,615, 67 basesExon 17: 46,728,855–46,728,934, 80 basesExon 18: 46,749,773–46,749,907, 135 basesExon 19: 46,751,503–46,751,616, 114 basesExon 20: 46,755,314–46,755,369, 56 basesExon 21: 46,755,802–46,757,464, 1,663 bases1215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4 kb of the gene's 166.8 kb; 2,235 of those bases code for the protein.

How a genome test reads NSF

4

positions in NSF where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (50%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 166.8 kb of NSF, introns included, not only the 4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NSF gene: N-ethylmaleimide sensitive factor, vesicle fusing ATPase. Retrieved 16 October 2026, from https://dantelabs.com/genes/nsf

Vancouver

Dante Labs. NSF gene: N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nsf

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