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Gene

ATP6V1B2

ATPase H+ transporting V1 subunit B2

Summary

Cytogenetic location
8p21.3
Coordinates
Chromosome 8: 20,197,381–20,221,696 (GRCh38)
Exons
14 exons across 24.3 kb
Protein
511 amino acids
Also known as
VATB, Vma2, HO57
Previous symbols
VPP3, ATP6B2
MANE Select transcript
ENST00000276390.7NM_001693.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 1 GenCC submitter rates it definitive or strong

    How ATP6V1B2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where ATP6V1B2 sits. ATP6V1B2 and 6 genes near it on chromosome 8, from 19,709,539 to 20,709,538.Chromosome 88p21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.319.8 Mb20 Mb20.2 Mb20.4 Mb20.6 MbCSGALNACT1: 19,404,156–19,758,030, reverse strandCSGALNACT1INTS10: 19,817,147–19,857,714, forward strandINTS10LPL: 19,901,717–19,967,653, forward strandLPLSLC18A1: 20,144,186–20,183,206, reverse strandSLC18A1ATP6V1B2: 20,197,381–20,221,696, forward strandATP6V1B2LZTS1: 20,246,165–20,303,970, reverse strandLZTS1: 20,255,055–20,255,279, reverse strandDiagram of ATP6V1B2: 14 exons on the forward strand of chromosome 8Exon 1: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 1: 20,197,381–20,197,542, 162 basesExon 2: 20,204,484–20,204,539, 56 basesExon 3: 20,209,433–20,209,531, 99 basesExon 4: 20,210,346–20,210,439, 94 basesExon 5: 20,210,569–20,210,646, 78 basesExon 6: 20,211,177–20,211,316, 140 basesExon 7: 20,211,652–20,211,753, 102 basesExon 8: 20,212,102–20,212,199, 98 basesExon 9: 20,212,782–20,212,905, 124 basesExon 10: 20,214,818–20,214,968, 151 basesExon 11: 20,216,413–20,216,495, 83 basesExon 12: 20,217,220–20,217,324, 105 basesExon 13: 20,218,153–20,218,282, 130 basesExon 14: 20,220,263–20,221,696, 1,434 bases124681012145′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 2.9 kb of the gene's 24.3 kb; 1,536 of those bases code for the protein.

    Sequencing ATP6V1B2

    1Low

    How hard ATP6V1B2 is to sequence with short reads, out of 100

    • Mappability0%
    • Homology0%
    • Repeats0%
    • GC content5.7%
    • Reference coverage0%

    10

    positions in ATP6V1B2 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 24.3 kb of ATP6V1B2, introns included, not only the 2.9 kb of exons.

    Genes linked to the same conditions

    Traits linked to ATP6V1B2

    The Human Phenotype Ontology lists these as features of the rare conditions ATP6V1B2 can cause. Each trait's page lists the other genes linked to it.

    Abnormality of head or neck

    Show 51 more traits

    External links

    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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). ATP6V1B2 gene: ATPase H+ transporting V1 subunit B2. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp6v1b2

    Vancouver

    Dante Labs. ATP6V1B2 gene: ATPase H+ transporting V1 subunit B2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp6v1b2

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