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Gene

PAX8

paired box 8

Summary

Cytogenetic location
2q14.1
Coordinates
Chromosome 2: 113,215,997–113,278,921 (GRCh38)
Exons
12 exons across 62.9 kb
Protein
450 amino acids
Also known as
PAX-8
MANE Select transcript
ENST00000429538.8NM_003466.4
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 reports relevant to this gene

  • Congenital Hypothyroidism

    • A thyroid hormone deficiency present from birth.

      • 3 GenCC submitters rate it definitive or strong

  • Thyroid Cancer

    • Hypothyroidism

      Abnormally low levels of thyroid hormone.

      • 3 GenCC submitters rate it definitive or strong
    • Thyroid Gland Disorder

      A disease involving the thyroid gland.

      • 3 GenCC submitters rate it definitive or strong

How PAX8 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 PAX8 sits. PAX8 and 15 genes near it on chromosome 2, from 112,747,459 to 113,747,458.Chromosome 22q14.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3112.8 Mb113 Mb113.2 Mb113.4 Mb113.6 MbCKAP2L: 112,736,349–112,764,664, reverse strandCKAP2LIL1A: 112,773,916–112,784,500, reverse strandIL1AIL1B: 112,829,750–112,864,235, reverse strandIL1BIL37: 112,911,160–112,918,882, forward strandIL37IL36G: 112,973,203–112,985,672, forward strandIL36GIL36A: 113,005,459–113,008,044, forward strandIL36AIL36B: 113,022,089–113,052,867, reverse strandIL36BIL36RN: 113,058,638–113,065,382, forward strandIL36RNIL38: 113,067,970–113,075,843, forward strandIL38IL1RN: 113,099,315–113,134,016, forward strandIL1RNPSD4: 113,157,325–113,209,396, forward strandPSD4PAX8: 113,215,997–113,278,921, reverse strandPAX8ZNG1B: 113,437,691–113,496,204, forward strandZNG1BFOXD4L1: 113,498,665–113,501,150, forward strandFOXD4L1RABL2A: 113,627,215–113,643,407, forward strandRABL2ASLC35F5: 113,705,011–113,756,700, reverse strandSLC35F5Diagram of PAX8: 12 exons on the reverse strand of chromosome 2Exon 9: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 12: 113,215,997–113,218,609, 2,613 basesExon 11: 113,220,092–113,220,178, 87 basesExon 10: 113,227,155–113,227,256, 102 basesExon 9: 113,235,394–113,235,582, 189 basesExon 8: 113,236,601–113,236,721, 121 basesExon 7: 113,241,551–113,241,726, 176 basesExon 6: 113,242,008–113,242,130, 123 basesExon 5: 113,242,690–113,242,778, 89 basesExon 4: 113,244,427–113,244,624, 198 basesExon 3: 113,246,754–113,246,919, 166 basesExon 2: 113,278,370–113,278,469, 100 basesExon 1: 113,278,831–113,278,921, 91 bases1210515′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 4.1 kb of the gene's 62.9 kb; 1,353 of those bases code for the protein.

How a genome test reads PAX8

12

positions in PAX8 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 62.9 kb of PAX8, introns included, not only the 4.1 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.). PAX8 gene: paired box 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/pax8

Vancouver

Dante Labs. PAX8 gene: paired box 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pax8

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