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Gene

POLR1D

RNA polymerase I and III subunit D

Summary

Cytogenetic location
13q12.2
Coordinates
Chromosome 13: 27,621,892–27,623,449 (GRCh38)
Exons
2 exons across 1.6 kb
Protein
133 amino acids
Also known as
RPAC2, RPA16, RPO1-3, RPA9, MGC9850, AC19
MANE Select transcript
ENST00000302979.5NM_015972.4
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

  • 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 definitive
      • 4 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 POLR1D is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 13, with a bracket where POLR1D sits. POLR1D and 11 genes near it on chromosome 13, from 27,122,671 to 28,122,670.Chromosome 1313q12.2p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3427.2 Mb27.4 Mb27.6 Mb27.8 Mb28 MbUSP12: 27,066,146–27,171,885, reverse strandUSP12RPL21: 27,251,283–27,266,550, forward strandRPL21RASL11A: 27,270,786–27,275,192, forward strandRASL11AGTF3A: 27,424,584–27,435,823, forward strandGTF3AMTIF3: 27,429,823–27,450,613, reverse strandMTIF3LNX2: 27,545,911–27,621,354, reverse strandLNX2POLR1D: 27,621,892–27,623,449, forward strandPOLR1DGSX1: 27,792,483–27,794,768, forward strandGSX1PDX1: 27,919,994–27,926,313, forward strandPDX1CDX2: 27,959,646–27,975,983, reverse strandCDX2URAD: 27,977,717–27,988,693, reverse strandURADFLT3: 28,003,274–28,100,592, reverse strandFLT3Diagram of POLR1D: 2 exons on the forward strand of chromosome 13Exon 2: 4 known disease-causing sitesExon 1: 27,621,892–27,622,009, 118 basesExon 2: 27,622,875–27,623,449, 575 bases125′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 0.7 kb of the gene's 1.6 kb; 402 of those bases code for the protein.

How a genome test reads POLR1D

6

positions in POLR1D 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 1.6 kb of POLR1D, introns included, not only the 0.7 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.). POLR1D gene: RNA polymerase I and III subunit D. Retrieved 17 October 2026, from https://dantelabs.com/genes/polr1d

Vancouver

Dante Labs. POLR1D gene: RNA polymerase I and III subunit D [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polr1d

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