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Gene

PRRT2

proline rich transmembrane protein 2

Summary

Cytogenetic location
16p11.2
Coordinates
Chromosome 16: 29,812,193–29,815,881 (GRCh38)
Exons
4 exons across 3.7 kb
Protein
340 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ25513, DKFZp547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1
Previous symbols
ICCA, DYT10
MANE Select transcript
ENST00000358758.12NM_145239.3
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 reports relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • PRRT2-associated paroxysmal movement disorderAutosomal dominant

      Brief attacks of involuntary movement triggered by sudden movement (paroxysmal kinesigenic dyskinesia), sometimes with infantile seizures; usually responds well to low-dose anti-seizure medicine.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
    • Paroxysmal DyskinesiaAutosomal dominant

      Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

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 PRRT2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where PRRT2 sits. PRRT2 and 39 genes near it on chromosome 16, from 29,314,037 to 30,314,036.Chromosome 1616p11.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.329.4 Mb29.6 Mb29.8 Mb30 Mb30.2 MbNPIPB11: 29,381,310–29,406,711, reverse strandNPIPB11BOLA2-SMG1P6: 29,443,230–29,454,651, reverse strandBOLA2: 29,453,587–29,455,012, reverse strandBOLA2SLX1B: 29,454,501–29,458,223, forward strandSLX1BSULT1A4: 29,458,993–29,464,979, forward strandSULT1A4NPIPB12: 29,483,534–29,508,595, reverse strandNPIPB12QPRT: 29,662,957–29,698,704, forward strandQPRTSPN: 29,662,957–29,670,876, forward strandSPNC16orf54: 29,742,463–29,746,079, reverse strandC16orf54ZG16: 29,760,591–29,783,885, forward strandKIF22: 29,790,137–29,805,388, forward strandMAZ: 29,805,637–29,811,176, forward strandMAZPRRT2: 29,812,193–29,815,881, forward strandPRRT2: 29,812,261–29,820,092, forward strandPAGR1: 29,816,086–29,822,489, forward strandPAGR1: 29,817,239–29,830,627, forward strandMVP: 29,820,394–29,848,039, forward strandCDIPT: 29,857,474–29,863,414, reverse strandSEZ6L2: 29,871,159–29,899,582, reverse strandSEZ6L2ASPHD1: 29,900,363–29,919,864, forward strandASPHD1KCTD13: 29,903,877–29,926,236, reverse strandKCTD13TMEM219: 29,940,885–29,973,052, forward strandTMEM219TAOK2: 29,973,675–29,992,262, forward strandTAOK2HIRIP3: 29,992,314–29,996,126, reverse strandHIRIP3INO80E: 29,994,983–30,005,794, forward strandINO80EDOC2A: 30,005,507–30,023,270, reverse strandFIMP1: 30,023,198–30,027,736, forward strandFIMP1TLCD3B: 30,024,425–30,052,978, reverse strand: 30,053,101–30,071,526, forward strandALDOA: 30,064,164–30,070,457, forward strandALDOAPPP4C: 30,075,967–30,085,391, forward strandPPP4CTBX6: 30,085,793–30,091,933, reverse strandTBX6YPEL3: 30,092,314–30,096,915, reverse strandGDPD3: 30,104,810–30,114,034, reverse strandMAPK3: 30,114,104–30,123,506, reverse strandCORO1A: 30,182,798–30,189,085, forward strandCORO1ABOLA2B: 30,192,928–30,194,306, reverse strandBOLA2BSLX1A: 30,193,875–30,197,566, forward strandSLX1ASULT1A3: 30,198,059–30,204,324, forward strandSULT1A3NPIPB13: 30,222,893–30,255,268, reverse strandDiagram of PRRT2: 4 exons on the forward strand of chromosome 16Exon 2: 82 known disease-causing sitesExon 3: 25 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 1: 29,812,193–29,812,323, 131 basesExon 2: 29,812,990–29,813,933, 944 basesExon 3: 29,814,333–29,814,465, 133 basesExon 4: 29,814,628–29,815,881, 1,254 bases12345′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 2.5 kb of the gene's 3.7 kb; 1,023 of those bases code for the protein.

How a genome test reads PRRT2

114

positions in PRRT2 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 3.7 kb of PRRT2, introns included, not only the 2.5 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.). PRRT2 gene: proline rich transmembrane protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/prrt2

Vancouver

Dante Labs. PRRT2 gene: proline rich transmembrane protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prrt2

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