Skip to content
Use your HSA or FSA funds

Gene

PRDM16

PR/SET domain 16

Summary

Cytogenetic location
1p36.32
Coordinates
Chromosome 1: 3,069,203–3,438,621 (GRCh38)
Exons
17 exons across 369.4 kb
Protein
1,276 amino acids
Also known as
MEL1, PFM13, KIAA1675, MGC166915, KMT8F
MANE Select transcript
ENST00000270722.10NM_022114.4
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 strong
      • 2 GenCC submitters rate it definitive or strong
      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 PRDM16 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 PRDM16 sits. PRDM16 and 10 genes near it on chromosome 1, from 2,699,784 to 3,808,040.Chromosome 11p36.32p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q442.8 Mb3 Mb3.2 Mb3.4 Mb3.6 Mb3.8 MbTTC34: 2,636,986–2,801,693, reverse strandTTC34ACTRT2: 3,021,467–3,022,903, forward strandACTRT2PRDM16: 3,069,203–3,438,621, forward strandPRDM16ARHGEF16: 3,454,550–3,485,968, forward strandARHGEF16MEGF6: 3,487,942–3,611,543, reverse strandMEGF6TPRG1L: 3,624,979–3,630,131, forward strandTPRG1LWRAP73: 3,630,767–3,652,761, reverse strandWRAP73TP73: 3,652,307–3,736,201, forward strandTP73CCDC27: 3,746,460–3,771,645, forward strandCCDC27SMIM1: 3,772,648–3,782,178, forward strandSMIM1LRRC47: 3,778,559–3,796,517, reverse strandLRRC47Diagram of PRDM16: 17 exons on the forward strand of chromosome 1Exon 4: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 1: 3,069,203–3,069,296, 94 basesExon 2: 3,186,125–3,186,474, 350 basesExon 3: 3,244,087–3,244,137, 51 basesExon 4: 3,385,152–3,385,286, 135 basesExon 5: 3,396,491–3,396,593, 103 basesExon 6: 3,402,791–3,402,998, 208 basesExon 7: 3,404,739–3,404,886, 148 basesExon 8: 3,405,495–3,405,648, 154 basesExon 9: 3,411,384–3,412,800, 1,417 basesExon 10: 3,414,560–3,414,647, 88 basesExon 11: 3,417,828–3,417,997, 170 basesExon 12: 3,418,667–3,418,744, 78 basesExon 13: 3,425,581–3,425,750, 170 basesExon 14: 3,426,051–3,426,225, 175 basesExon 15: 3,430,872–3,431,108, 237 basesExon 16: 3,431,966–3,432,140, 175 basesExon 17: 3,433,677–3,438,621, 4,945 bases110175′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 8.7 kb of the gene's 369.4 kb; 3,831 of those bases code for the protein.

How a genome test reads PRDM16

6

positions in PRDM16 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 369.4 kb of PRDM16, introns included, not only the 8.7 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.). PRDM16 gene: PR/SET domain 16. Retrieved 17 October 2026, from https://dantelabs.com/genes/prdm16

Vancouver

Dante Labs. PRDM16 gene: PR/SET domain 16 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prdm16

One test. A lifetime of answers.

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

Get my Genome Test