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Gene

PDX1

pancreatic and duodenal homeobox 1

Summary

Cytogenetic location
13q12.2
Coordinates
Chromosome 13: 27,920,000–27,926,313 (GRCh38)
Exons
2 exons across 6.3 kb
Protein
283 amino acids
Inheritance
Autosomal dominant
Also known as
IDX-1, STF-1, PDX-1, MODY4, GSF, IUF-1
Previous symbols
IPF1
MANE Select transcript
ENST00000381033.5NM_000209.4
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

  • Diabetes Mellitus

    • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

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

      Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

  • Maturity-Onset Diabetes Of The Young

    • Autosomal dominant

      MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile

  • Neonatal Diabetes Mellitus

    • Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PDX1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 13, with a bracket where PDX1 sits. PDX1 and 10 genes near it on chromosome 13, from 27,423,157 to 28,423,156.Chromosome 1313q12.2p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3427.6 Mb27.8 Mb28 Mb28.2 Mb28.4 MbGTF3A: 27,424,584–27,435,823, forward strandGTF3AMTIF3: 27,429,823–27,450,613, reverse strandMTIF3LNX2: 27,545,911–27,621,354, reverse strandLNX2POLR1D: 27,620,742–27,744,237, forward strandPOLR1DGSX1: 27,792,483–27,794,768, forward strandGSX1PDX1: 27,920,000–27,926,313, 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 strandFLT3PAN3: 28,138,193–28,295,335, forward strandPAN3FLT1: 28,299,540–28,495,288, reverse strandFLT1Diagram of PDX1: 2 exons on the forward strand of chromosome 13Exon 1: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 27,920,000–27,920,544, 545 basesExon 2: 27,924,256–27,926,313, 2,058 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 2.6 kb of the gene's 6.3 kb; 852 of those bases code for the protein.

How a genome test reads PDX1

10

positions in PDX1 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 6.3 kb of PDX1, introns included, not only the 2.6 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.). PDX1 gene: pancreatic and duodenal homeobox 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pdx1

Vancouver

Dante Labs. PDX1 gene: pancreatic and duodenal homeobox 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pdx1

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