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Gene

VAC14

VAC14 component of PIKFYVE complex

Summary

Cytogenetic location
16q22.1-q22.2
Coordinates
Chromosome 16: 70,687,439–70,801,158 (GRCh38)
Exons
19 exons across 113.7 kb
Protein
782 amino acids
Also known as
FLJ10305, ArPIKfyve
Previous symbols
TAX1BP2
MANE Select transcript
ENST00000261776.10NM_018052.5
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 report relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 GenCC submitters rate it definitive or strong

How VAC14 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where VAC14 sits. VAC14 and 12 genes near it on chromosome 16, from 70,244,299 to 71,244,298.Chromosome 1616q22.1-q22.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.370.4 Mb70.6 Mb70.8 Mb71 Mb71.2 MbEXOSC6: 70,246,778–70,251,940, reverse strandEXOSC6AARS1: 70,251,983–70,289,707, reverse strandAARS1DDX19B: 70,289,663–70,335,992, forward strandDDX19B: 70,299,194–70,372,582, forward strandDDX19A: 70,346,861–70,379,987, forward strandDDX19AST3GAL2: 70,375,977–70,439,263, reverse strandST3GAL2FCSK: 70,454,398–70,480,275, forward strandFCSKCOG4: 70,480,567–70,523,582, reverse strandCOG4SF3B3: 70,523,782–70,577,670, forward strandSF3B3IL34: 70,579,868–70,661,556, forward strandIL34MTSS2: 70,661,204–70,686,086, reverse strandMTSS2VAC14: 70,687,439–70,801,158, reverse strandVAC14HYDIN: 70,802,084–71,230,735, reverse strandHYDINDiagram of VAC14: 19 exons on the reverse strand of chromosome 16Exon 8: 2 known disease-causing sitesExon 19: 70,687,439–70,688,090, 652 basesExon 18: 70,692,821–70,692,971, 151 basesExon 17: 70,695,544–70,695,623, 80 basesExon 16: 70,697,139–70,697,257, 119 basesExon 15: 70,698,637–70,698,811, 175 basesExon 14: 70,731,495–70,731,627, 133 basesExon 13: 70,744,423–70,744,579, 157 basesExon 12: 70,762,540–70,762,605, 66 basesExon 11: 70,762,881–70,763,025, 145 basesExon 10: 70,772,109–70,772,172, 64 basesExon 9: 70,780,790–70,780,939, 150 basesExon 8: 70,781,869–70,782,003, 135 basesExon 7: 70,783,033–70,783,139, 107 basesExon 6: 70,783,445–70,783,554, 110 basesExon 5: 70,784,113–70,784,220, 108 basesExon 4: 70,784,776–70,784,838, 63 basesExon 3: 70,785,702–70,785,869, 168 basesExon 2: 70,786,215–70,786,365, 151 basesExon 1: 70,800,797–70,801,158, 362 bases191510515′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 3.1 kb of the gene's 113.7 kb; 2,349 of those bases code for the protein.

How a genome test reads VAC14

3

positions in VAC14 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 113.7 kb of VAC14, introns included, not only the 3.1 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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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.). VAC14 gene: VAC14 component of PIKFYVE complex. Retrieved 17 October 2026, from https://dantelabs.com/genes/vac14

Vancouver

Dante Labs. VAC14 gene: VAC14 component of PIKFYVE complex [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vac14

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