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Gene

ATP6V1B1

ATPase H+ transporting V1 subunit B1

Summary

Cytogenetic location
2p13.3
Coordinates
Chromosome 2: 70,935,900–70,965,431 (GRCh38)
Exons
14 exons across 29.5 kb
Protein
513 amino acids
Also known as
VATB, RTA1B, Vma2
Previous symbols
VPP3, ATP6B1
MANE Select transcript
ENST00000234396.10NM_001692.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Renal Tubular Acidosis

    • Distal Renal Tubular AcidosisAutosomal recessive

      An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      Actionability

      Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.

How ATP6V1B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where ATP6V1B1 sits. ATP6V1B1 and 14 genes near it on chromosome 2, from 70,450,666 to 71,450,665.Chromosome 22p13.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.370.6 Mb70.8 Mb71 Mb71.2 Mb71.4 MbTGFA: 70,447,284–70,554,193, reverse strandTGFAADD2: 70,607,618–70,768,499, reverse strandADD2FIGLA: 70,777,310–70,790,643, reverse strandFIGLACLEC4F: 70,808,643–70,820,601, reverse strandCLEC4FCD207: 70,830,000–70,835,822, reverse strandCD207VAX2: 70,900,488–70,965,431, forward strandVAX2ATP6V1B1: 70,935,900–70,965,431, forward strandATP6V1B1: 70,939,318–70,995,336, reverse strandTEX261: 70,968,325–70,994,873, reverse strandTEX261ANKRD53: 70,978,380–70,985,967, forward strandNAGK: 71,064,344–71,079,808, forward strandNAGKMCEE: 71,108,926–71,130,279, reverse strandMCEEMPHOSPH10: 71,130,305–71,150,101, forward strandMPHOSPH10PAIP2B: 71,181,702–71,227,112, reverse strandPAIP2BZNF638: 71,276,537–71,437,183, forward strandZNF638Diagram of ATP6V1B1: 14 exons on the forward strand of chromosome 2Exon 1: 8 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 8 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 1: 70,935,900–70,936,072, 173 basesExon 2: 70,943,658–70,943,713, 56 basesExon 3: 70,958,046–70,958,144, 99 basesExon 4: 70,958,333–70,958,426, 94 basesExon 5: 70,959,018–70,959,095, 78 basesExon 6: 70,959,939–70,960,078, 140 basesExon 7: 70,960,921–70,961,022, 102 basesExon 8: 70,961,596–70,961,693, 98 basesExon 9: 70,962,777–70,962,900, 124 basesExon 10: 70,963,162–70,963,312, 151 basesExon 11: 70,963,572–70,963,654, 83 basesExon 12: 70,964,438–70,964,542, 105 basesExon 13: 70,964,736–70,964,865, 130 basesExon 14: 70,964,958–70,965,431, 474 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 1.9 kb of the gene's 29.5 kb; 1,542 of those bases code for the protein.

Sequencing ATP6V1B1

98

positions in ATP6V1B1 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 29.5 kb of ATP6V1B1, introns included, not only the 1.9 kb of exons.

Genes linked to the same conditions

Traits linked to ATP6V1B1

The Human Phenotype Ontology lists these as features of the rare conditions ATP6V1B1 can cause. Each trait's page lists the other genes linked to it.

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 2026-10-16: 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.). ATP6V1B1 gene: ATPase H+ transporting V1 subunit B1. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp6v1b1

Vancouver

Dante Labs. ATP6V1B1 gene: ATPase H+ transporting V1 subunit B1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp6v1b1

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