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Gene

POLR1B

RNA polymerase I subunit B

Summary

Cytogenetic location
2q14.1
Coordinates
Chromosome 2: 112,542,465–112,579,818 (GRCh38)
Exons
15 exons across 37.4 kb
Protein
1,135 amino acids
Also known as
Rpo1-2, FLJ21921, FLJ10816, RPA2, RPA135
MANE Select transcript
ENST00000263331.10NM_019014.6
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

  • Treacher Collins Syndrome

    • A condition of facial development (mandibulofacial dysostosis) caused by changes in TCOF1, POLR1D, POLR1C or POLR1B, inherited dominantly or, for some genes, recessively; features vary widely, so mildly affected parents are often not recognised.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports management of hearing and breathing and informs counselling about recurrence in a family.

How POLR1B 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 POLR1B sits. POLR1B and 17 genes near it on chromosome 2, from 112,061,142 to 113,061,141.Chromosome 22q14.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3112.2 Mb112.4 Mb112.6 Mb112.8 Mb113 MbTMEM87B: 112,055,202–112,119,870, forward strandTMEM87BFBLN7: 112,138,363–112,188,218, forward strandFBLN7ZC3H8: 112,211,529–112,255,151, reverse strandZC3H8ZC3H6: 112,275,565–112,340,059, forward strandZC3H6RGPD8: 112,368,369–112,434,488, reverse strandRGPD8TTL: 112,482,112–112,541,739, forward strandTTLPOLR1B: 112,542,465–112,579,818, forward strandPOLR1BCHCHD5: 112,584,240–112,589,275, forward strandCHCHD5SLC20A1: 112,645,853–112,664,727, forward strandSLC20A1NT5DC4: 112,721,020–112,742,879, forward strandNT5DC4CKAP2L: 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 strandIL36RNDiagram of POLR1B: 15 exons on the forward strand of chromosome 2Exon 3: 1 known disease-causing siteExon 1: 112,542,465–112,542,671, 207 basesExon 2: 112,547,012–112,547,179, 168 basesExon 3: 112,547,421–112,547,567, 147 basesExon 4: 112,549,267–112,549,399, 133 basesExon 5: 112,550,866–112,551,002, 137 basesExon 6: 112,551,775–112,551,998, 224 basesExon 7: 112,552,645–112,552,816, 172 basesExon 8: 112,557,910–112,558,081, 172 basesExon 9: 112,559,293–112,559,574, 282 basesExon 10: 112,564,366–112,564,499, 134 basesExon 11: 112,567,967–112,568,137, 171 basesExon 12: 112,568,746–112,568,902, 157 basesExon 13: 112,572,562–112,572,758, 197 basesExon 14: 112,573,562–112,573,815, 254 basesExon 15: 112,574,847–112,579,818, 4,972 bases12468101214155′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 7.5 kb of the gene's 37.4 kb; 3,408 of those bases code for the protein.

How a genome test reads POLR1B

1

position in POLR1B 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 37.4 kb of POLR1B, introns included, not only the 7.5 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.). POLR1B gene: RNA polymerase I subunit B. Retrieved 17 October 2026, from https://dantelabs.com/genes/polr1b

Vancouver

Dante Labs. POLR1B gene: RNA polymerase I subunit B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polr1b

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