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Gene

PLEKHM2

pleckstrin homology and RUN domain containing M2

Summary

Cytogenetic location
1p36.21
Coordinates
Chromosome 1: 15,684,320–15,734,769 (GRCh38)
Exons
20 exons across 50.5 kb
Protein
1,019 amino acids
Also known as
KIAA0842
MANE Select transcript
ENST00000375799.8NM_015164.4
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

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • ClinGen rates the link moderate
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

How PLEKHM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 1, with a bracket where PLEKHM2 sits. PLEKHM2 and 24 genes near it on chromosome 1, from 15,209,545 to 16,209,544.Chromosome 11p36.21p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4415.4 Mb15.6 Mb15.8 Mb16 Mb16.2 MbTMEM51: 15,152,498–15,220,484, forward strandTMEM51FHAD1: 15,236,521–15,400,283, forward strandFHAD1EFHD2: 15,409,572–15,430,343, forward strandEFHD2CTRC: 15,438,442–15,449,242, forward strandCTRCCELA2A: 15,456,728–15,472,093, forward strandCELA2ACELA2B: 15,465,909–15,491,400, forward strandCELA2BCASP9: 15,489,724–15,526,534, reverse strandCASP9DNAJC16: 15,526,813–15,592,379, forward strandDNAJC16AGMAT: 15,571,699–15,585,084, reverse strandAGMATDDI2: 15,617,416–15,669,044, forward strandDDI2RSC1A1: 15,659,713–15,662,033, forward strandRSC1A1PLEKHM2: 15,684,320–15,734,769, forward strandPLEKHM2SLC25A34: 15,736,176–15,741,392, forward strandSLC25A34TMEM82: 15,742,488–15,747,982, forward strandTMEM82FBLIM1: 15,756,604–15,786,594, forward strandFBLIM1UQCRHL: 15,807,169–15,809,348, reverse strandUQCRHLSPEN: 15,836,095–15,940,456, forward strandSPENZBTB17: 15,940,148–15,976,132, reverse strandZBTB17SRARP: 16,004,229–16,009,382, forward strandSRARPHSPB7: 16,014,018–16,020,597, reverse strandHSPB7CLCNKA: 16,018,146–16,034,109, forward strandCLCNKACLCNKB: 16,040,252–16,057,367, forward strandCLCNKBFAM131C: 16,057,769–16,073,664, reverse strandEPHA2: 16,124,337–16,156,141, reverse strandEPHA2ARHGEF19: 16,197,854–16,212,893, reverse strandARHGEF19Diagram of PLEKHM2: 20 exons on the forward strand of chromosome 1Exon 1: 15,684,320–15,684,618, 299 basesExon 2: 15,716,237–15,716,343, 107 basesExon 3: 15,716,707–15,716,816, 110 basesExon 4: 15,717,893–15,717,992, 100 basesExon 5: 15,718,538–15,718,625, 88 basesExon 6: 15,719,734–15,719,920, 187 basesExon 7: 15,721,329–15,721,388, 60 basesExon 8: 15,725,317–15,725,545, 229 basesExon 9: 15,727,014–15,727,832, 819 basesExon 10: 15,728,079–15,728,148, 70 basesExon 11: 15,728,267–15,728,357, 91 basesExon 12: 15,728,669–15,728,733, 65 basesExon 13: 15,729,102–15,729,190, 89 basesExon 14: 15,729,797–15,729,929, 133 basesExon 15: 15,730,532–15,730,722, 191 basesExon 16: 15,731,192–15,731,257, 66 basesExon 17: 15,731,889–15,732,048, 160 basesExon 18: 15,732,350–15,732,529, 180 basesExon 19: 15,732,612–15,732,728, 117 basesExon 20: 15,733,797–15,734,769, 973 bases151015205′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 4.1 kb of the gene's 50.5 kb; 3,060 of those bases code for the protein.

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.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PLEKHM2 gene: pleckstrin homology and RUN domain containing M2. Retrieved 17 October 2026, from https://dantelabs.com/genes/plekhm2

Vancouver

Dante Labs. PLEKHM2 gene: pleckstrin homology and RUN domain containing M2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plekhm2

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