Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

PMS1

PMS1 homolog 1, mismatch repair system component

Summary

Cytogenetic location
2q32.2
Coordinates
Chromosome 2: 189,784,450–189,877,629 (GRCh38)
Exons
13 exons across 93.2 kb
Protein
932 amino acids
Also known as
MLH2
Previous symbols
PMSL1
MANE Select transcript
ENST00000441310.7NM_000534.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads PMS1 yet. The test sequences your whole genome, so your data includes it all the same.

How PMS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 2, with a bracket where PMS1 sits. PMS1 and 11 genes near it on chromosome 2, from 189,331,040 to 190,331,039.Chromosome 22q32.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3189.4 Mb189.6 Mb189.8 Mb190 Mb190.2 MbWDR75: 189,441,429–189,485,916, forward strandWDR75SLC40A1: 189,560,491–189,583,758, reverse strandSLC40A1ASNSD1: 189,661,385–189,671,381, forward strandASNSD1ASDURF: 189,661,385–189,666,437, forward strandASDURF: 189,661,519–189,667,881, forward strandANKAR: 189,674,290–189,761,193, forward strandANKAROSGEPL1: 189,746,415–189,763,230, reverse strandOSGEPL1ORMDL1: 189,765,545–189,784,395, reverse strandORMDL1PMS1: 189,784,450–189,877,629, forward strandPMS1AKAP19: 189,879,543–190,204,492, forward strandAKAP19MSTN: 190,055,700–190,062,740, reverse strandMSTNHIBCH: 190,189,735–190,344,193, reverse strandHIBCHDiagram of PMS1: 13 exons on the forward strand of chromosome 2Exon 1: 189,784,450–189,784,593, 144 basesExon 2: 189,791,790–189,791,941, 152 basesExon 3: 189,795,769–189,795,951, 183 basesExon 4: 189,805,652–189,805,754, 103 basesExon 5: 189,818,017–189,818,180, 164 basesExon 6: 189,843,964–189,844,080, 117 basesExon 7: 189,852,655–189,852,777, 123 basesExon 8: 189,853,939–189,854,082, 144 basesExon 9: 189,854,239–189,855,128, 890 basesExon 10: 189,863,743–189,864,228, 486 basesExon 11: 189,867,799–189,867,929, 131 basesExon 12: 189,873,496–189,873,656, 161 basesExon 13: 189,877,272–189,877,629, 358 bases124681012135′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 3.2 kb of the gene's 93.2 kb; 2,799 of those bases code for the protein.

Sequencing PMS1

1Low

How hard PMS1 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats2%
  • GC content9.8%
  • Reference coverage0%

Traits linked to PMS1

The Human Phenotype Ontology lists these as features of the rare conditions PMS1 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.
  • The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.

Cite this page

APA

Dante Labs. (n.d.). PMS1 gene: PMS1 homolog 1, mismatch repair system component. Retrieved 18 October 2026, from https://dantelabs.com/genes/pms1

Vancouver

Dante Labs. PMS1 gene: PMS1 homolog 1, mismatch repair system component [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/pms1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test