Skip to content
Use your HSA or FSA funds

Gene

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 68,039,025–68,050,895 (GRCh38)
Exons
20 exons across 11.9 kb
Protein
830 amino acids
Also known as
TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3
MANE Select transcript
ENST00000265686.8NM_006019.4
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

  • Osteopetrosis

    • Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

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

How TCIRG1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where TCIRG1 sits. TCIRG1 and 14 genes near it on chromosome 11, from 67,544,960 to 68,544,959.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2567.6 Mb67.8 Mb68 Mb68.2 Mb68.4 MbGSTP1: 67,583,523–67,592,110, forward strandGSTP1NDUFV1: 67,605,653–67,612,554, forward strandNUDT8: 67,627,937–67,630,112, reverse strandNUDT8TBX10: 67,631,303–67,639,767, reverse strandTBX10ACY3: 67,642,551–67,650,900, reverse strandACY3ALDH3B2: 67,662,155–67,681,224, reverse strandALDH3B2UNC93B1: 67,991,100–68,004,982, reverse strandUNC93B1ALDH3B1: 68,008,543–68,029,282, forward strandALDH3B1NDUFS8: 68,030,617–68,036,649, forward strandNDUFS8TCIRG1: 68,039,025–68,050,895, forward strandTCIRG1CHKA: 68,052,848–68,121,449, reverse strandCHKAKMT5B: 68,154,863–68,214,134, reverse strandKMT5BC11orf24: 68,261,335–68,272,001, reverse strandC11orf24LRP5: 68,312,430–68,449,275, forward strandLRP5PPP6R3: 68,460,475–68,615,343, forward strandPPP6R3Diagram of TCIRG1: 20 exons on the forward strand of chromosome 11Exon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 10 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 9: 22 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 12: 22 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 16: 10 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 19: 7 known disease-causing sitesExon 20: 1 known disease-causing siteExon 1: 68,039,025–68,039,119, 95 basesExon 2: 68,041,268–68,041,388, 121 basesExon 3: 68,041,753–68,041,831, 79 basesExon 4: 68,042,643–68,042,863, 221 basesExon 5: 68,042,946–68,043,031, 86 basesExon 6: 68,043,371–68,043,497, 127 basesExon 7: 68,043,571–68,043,653, 83 basesExon 8: 68,043,814–68,043,907, 94 basesExon 9: 68,044,132–68,044,344, 213 basesExon 10: 68,044,958–68,045,102, 145 basesExon 11: 68,047,433–68,047,572, 140 basesExon 12: 68,047,647–68,047,804, 158 basesExon 13: 68,047,882–68,047,972, 91 basesExon 14: 68,048,879–68,048,997, 119 basesExon 15: 68,049,081–68,049,294, 214 basesExon 16: 68,049,663–68,049,788, 126 basesExon 17: 68,049,962–68,050,066, 105 basesExon 18: 68,050,137–68,050,254, 118 basesExon 19: 68,050,487–68,050,664, 178 basesExon 20: 68,050,741–68,050,895, 155 bases124681012141618205′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 2.7 kb of the gene's 11.9 kb; 2,493 of those bases code for the protein.

How a genome test reads TCIRG1

203

positions in TCIRG1 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 11.9 kb of TCIRG1, introns included, not only the 2.7 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.). TCIRG1 gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3. Retrieved 17 October 2026, from https://dantelabs.com/genes/tcirg1

Vancouver

Dante Labs. TCIRG1 gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tcirg1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test