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Gene

VPS41

VPS41 subunit of HOPS complex

Summary

Cytogenetic location
7p14.1
Coordinates
Chromosome 7: 38,722,974–38,909,191 (GRCh38)
Exons
29 exons across 186.2 kb
Protein
854 amino acids
Inheritance
Autosomal recessive
Also known as
HVSP41
MANE Select transcript
ENST00000310301.9NM_014396.4
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 report relevant to this gene

    • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

      • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

        One of 57 genes linked to it

        A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

    Inheritance

    Autosomal recessive
    It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

    How VPS41 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 7, with a bracket where VPS41 sits. VPS41 and 3 genes near it on chromosome 7, from 38,316,083 to 39,316,082.Chromosome 77p14.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.338.4 Mb38.6 Mb38.8 Mb39 Mb39.2 MbAMPH: 38,383,700–38,631,512, reverse strandAMPHCFAP144P1: 38,685,346–38,687,037, reverse strandCFAP144P1VPS41: 38,722,974–38,909,191, reverse strandVPS41POU6F2: 38,977,909–39,493,095, forward strandPOU6F2Diagram of VPS41: 29 exons on the reverse strand of chromosome 7Exon 24: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 29: 38,722,974–38,726,326, 3,353 basesExon 28: 38,726,909–38,726,988, 80 basesExon 27: 38,728,542–38,728,586, 45 basesExon 26: 38,728,692–38,728,791, 100 basesExon 25: 38,741,985–38,742,121, 137 basesExon 24: 38,743,402–38,743,542, 141 basesExon 23: 38,745,559–38,745,613, 55 basesExon 22: 38,752,176–38,752,313, 138 basesExon 21: 38,754,702–38,754,752, 51 basesExon 20: 38,754,895–38,754,936, 42 basesExon 19: 38,756,838–38,756,982, 145 basesExon 18: 38,758,354–38,758,481, 128 basesExon 17: 38,763,455–38,763,547, 93 basesExon 16: 38,765,580–38,765,661, 82 basesExon 15: 38,767,537–38,767,598, 62 basesExon 14: 38,771,198–38,771,254, 57 basesExon 13: 38,772,522–38,772,637, 116 basesExon 12: 38,774,115–38,774,244, 130 basesExon 11: 38,776,679–38,776,776, 98 basesExon 10: 38,789,801–38,789,867, 67 basesExon 9: 38,795,465–38,795,611, 147 basesExon 8: 38,796,745–38,796,864, 120 basesExon 7: 38,817,817–38,817,882, 66 basesExon 6: 38,821,203–38,821,265, 63 basesExon 5: 38,830,254–38,830,328, 75 basesExon 4: 38,862,545–38,862,622, 78 basesExon 3: 38,869,146–38,869,253, 108 basesExon 2: 38,898,091–38,898,129, 39 basesExon 1: 38,909,154–38,909,191, 38 bases2925201510515′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 5.9 kb of the gene's 186.2 kb; 2,565 of those bases code for the protein.

    How a genome test reads VPS41

    6

    positions in VPS41 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 186.2 kb of VPS41, introns included, not only the 5.9 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.). VPS41 gene: VPS41 subunit of HOPS complex. Retrieved 16 October 2026, from https://dantelabs.com/genes/vps41

    Vancouver

    Dante Labs. VPS41 gene: VPS41 subunit of HOPS complex [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/vps41

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