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Gene

MPL

MPL proto-oncogene, thrombopoietin receptor

Summary

Cytogenetic location
1p34.2
Coordinates
Chromosome 1: 43,337,818–43,354,466 (GRCh38)
Exons
12 exons across 16.6 kb
Protein
635 amino acids
Also known as
CD110, TPOR, THPOR
MANE Select transcript
ENST00000372470.9NM_005373.3
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

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

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

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How MPL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where MPL sits. MPL and 17 genes near it on chromosome 1, from 42,846,142 to 43,846,141.Chromosome 11p34.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4443 Mb43.2 Mb43.4 Mb43.6 Mb43.8 MbZNF691: 42,846,573–42,854,023, forward strandZNF691SLC2A1: 42,925,353–42,958,904, reverse strandSLC2A1CFAP144: 43,145,153–43,156,396, forward strandCFAP144EBNA1BP2: 43,162,085–43,270,936, reverse strandEBNA1BP2CFAP57: 43,172,326–43,254,358, forward strandCFAP57TMEM125: 43,269,976–43,274,007, forward strandTMEM125C1orf210: 43,281,271–43,285,908, reverse strandC1orf210TIE1: 43,300,958–43,325,215, forward strandTIE1MPL: 43,337,818–43,354,466, forward strandMPLCDC20: 43,358,907–43,363,212, forward strandCDC20ELOVL1: 43,363,141–43,368,075, reverse strandELOVL1MED8: 43,383,906–43,389,823, reverse strandMED8SZT2: 43,389,882–43,454,247, forward strandSZT2HYI: 43,450,597–43,453,999, reverse strandHYIPTPRF: 43,525,086–43,626,579, forward strandPTPRFKDM4A: 43,649,256–43,705,518, forward strandKDM4A: 43,650,149–43,931,014, forward strandST3GAL3: 43,705,824–43,931,167, forward strandST3GAL3Diagram of MPL: 12 exons on the forward strand of chromosome 1Exon 1: 10 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 3: 29 known disease-causing sitesExon 4: 28 known disease-causing sitesExon 5: 32 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 22 known disease-causing sitesExon 8: 16 known disease-causing sitesExon 9: 27 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 11 known disease-causing sitesExon 1: 43,337,818–43,337,927, 110 basesExon 2: 43,338,099–43,338,231, 133 basesExon 3: 43,338,542–43,338,720, 179 basesExon 4: 43,339,271–43,339,569, 299 basesExon 5: 43,339,964–43,340,126, 163 basesExon 6: 43,340,387–43,340,513, 127 basesExon 7: 43,346,445–43,346,629, 185 basesExon 8: 43,346,792–43,346,934, 143 basesExon 9: 43,348,843–43,349,002, 160 basesExon 10: 43,349,263–43,349,359, 97 basesExon 11: 43,352,216–43,352,303, 88 basesExon 12: 43,352,518–43,354,466, 1,949 bases1234567891011125′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 3.6 kb of the gene's 16.6 kb; 1,908 of those bases code for the protein.

How a genome test reads MPL

245

positions in MPL 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 16.6 kb of MPL, introns included, not only the 3.6 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.). MPL gene: MPL proto-oncogene, thrombopoietin receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/mpl

Vancouver

Dante Labs. MPL gene: MPL proto-oncogene, thrombopoietin receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mpl

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