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Gene

PABPN1

poly(A) binding protein nuclear 1

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 23,321,457–23,326,163 (GRCh38)
Exons
7 exons across 4.7 kb
Protein
306 amino acids
Also known as
PAB2
Previous symbols
OPMD, PABP2
MANE Select transcript
ENST00000216727.9NM_004643.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads PABPN1 yet. The test sequences your whole genome, so your data includes it all the same.

How PABPN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where PABPN1 sits. PABPN1 and 36 genes near it on chromosome 14, from 22,823,810 to 23,823,809.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3323 Mb23.2 Mb23.4 Mb23.6 Mb23.8 MbSLC7A7: 22,773,222–22,829,820, reverse strandSLC7A7MRPL52: 22,829,871–22,836,024, forward strandMRPL52MMP14: 22,836,532–22,849,041, forward strandMMP14LRP10: 22,871,709–22,881,713, forward strandLRP10REM2: 22,883,136–22,887,686, forward strandREM2RBM23: 22,893,204–22,919,182, reverse strandRBM23PRMT5: 22,920,108–22,929,458, reverse strandPRMT5HAUS4: 22,946,228–22,957,161, reverse strandHAUS4: 22,946,270–22,982,258, reverse strandAJUBA: 22,971,177–22,982,647, reverse strandAJUBAC14orf93: 22,985,894–23,010,529, reverse strandC14orf93PSMB5: 23,016,540–23,035,239, reverse strandPSMB5PSMB11: 23,042,212–23,044,060, forward strandPSMB11CDH24: 23,047,062–23,057,668, reverse strandCDH24ACIN1: 23,058,561–23,095,614, reverse strandACIN1C14orf119: 23,094,692–23,100,456, forward strandC14orf119CIROP: 23,099,062–23,105,018, reverse strandCIROPCEBPE: 23,117,036–23,120,256, reverse strandCEBPESLC7A8: 23,125,295–23,183,683, reverse strandSLC7A8RNF212B: 23,185,316–23,273,477, forward strandHOMEZ: 23,258,697–23,299,796, reverse strandPPP1R3E: 23,295,652–23,302,950, reverse strandPPP1R3EBCL2L2: 23,298,790–23,313,069, forward strandBCL2L2BCL2L2-PABPN1: 23,306,833–23,326,175, forward strandBCL2L2-PABPN1PABPN1: 23,321,457–23,326,163, forward strandPABPN1SLC22A17: 23,346,314–23,352,912, reverse strandEFS: 23,353,248–23,366,287, reverse strandEFSIL25: 23,372,809–23,376,403, forward strandCMTM5: 23,376,627–23,379,772, forward strandMYH6: 23,380,206–23,408,945, reverse strandMYH6MYH7: 23,412,732–23,436,137, reverse strandMYH7NGDN: 23,469,464–23,510,024, forward strandNGDNZFHX2: 23,520,851–23,556,192, reverse strandZFHX2THTPA: 23,555,988–23,560,778, forward strandTHTPAAP1G2: 23,559,555–23,569,507, reverse strandAP1G2JPH4: 23,568,035–23,578,856, reverse strandJPH4DHRS2: 23,630,115–23,645,639, forward strandDHRS2Diagram of PABPN1: 7 exons on the forward strand of chromosome 14Exon 1: 5 known disease-causing sitesExon 1: 23,321,457–23,321,820, 364 basesExon 2: 23,322,181–23,322,295, 115 basesExon 3: 23,322,999–23,323,066, 68 basesExon 4: 23,323,377–23,323,483, 107 basesExon 5: 23,323,965–23,324,052, 88 basesExon 6: 23,324,138–23,324,289, 152 basesExon 7: 23,325,247–23,326,163, 917 bases12345675′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 1.8 kb of the gene's 4.7 kb; 921 of those bases code for the protein.

Sequencing PABPN1

5

positions in PABPN1 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 4.7 kb of PABPN1, introns included, not only the 1.8 kb of exons.

Traits linked to PABPN1

The Human Phenotype Ontology lists these as features of the rare conditions PABPN1 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.
  • 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.). PABPN1 gene: poly(A) binding protein nuclear 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pabpn1

Vancouver

Dante Labs. PABPN1 gene: poly(A) binding protein nuclear 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pabpn1

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