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Gene

PPP1R13L

protein phosphatase 1 regulatory subunit 13 like

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,379,638–45,405,069 (GRCh38)
Exons
13 exons across 25.4 kb
Protein
828 amino acids
Also known as
RAI, IASPP
MANE Select transcript
ENST00000360957.10NM_006663.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Arrhythmogenic Cardiomyopathy with Variable Ectodermal AbnormalitiesAutosomal recessive

      A condition caused by changes in PPP1R13L that combines arrhythmogenic cardiomyopathy with variable hair, skin and tooth differences.

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

  • 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.

      • 1 GenCC submitter rates it definitive or strong
      Actionability

      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 PPP1R13L is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where PPP1R13L sits. PPP1R13L and 43 genes near it on chromosome 19, from 44,892,354 to 45,892,353.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbTOMM40: 44,890,569–44,903,695, forward strandAPOE: 44,903,787–44,909,396, forward strandAPOC1: 44,913,133–44,920,054, forward strandAPOC1APOC2: 44,936,126–44,949,585, forward strandAPOC2APOC4: 44,942,234–44,945,496, forward strandAPOC4APOC4-APOC2: 44,942,238–44,949,565, forward strandAPOC4-APOC2CLPTM1: 44,954,585–44,993,342, forward strandCLPTM1RELB: 45,001,431–45,038,194, forward strandRELBCLASRP: 45,039,042–45,070,956, forward strandCLASRPZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandMARK4PPP1R37: 45,091,396–45,148,077, forward strandNKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,638–45,405,069, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,527,767–45,602,212, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,767–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKFOXA3: 45,863,989–45,873,798, forward strandFOXA3IRF2BP1: 45,883,608–45,886,141, reverse strandIRF2BP1MYPOP: 45,890,020–45,902,808, reverse strandMYPOPDiagram of PPP1R13L: 13 exons on the reverse strand of chromosome 19Exon 8: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 13: 45,379,638–45,380,228, 591 basesExon 12: 45,382,527–45,382,726, 200 basesExon 11: 45,385,562–45,385,728, 167 basesExon 10: 45,385,824–45,385,957, 134 basesExon 9: 45,386,049–45,386,180, 132 basesExon 8: 45,391,880–45,392,340, 461 basesExon 7: 45,395,436–45,395,886, 451 basesExon 6: 45,396,168–45,396,259, 92 basesExon 5: 45,396,338–45,396,436, 99 basesExon 4: 45,396,545–45,397,058, 514 basesExon 3: 45,398,005–45,398,147, 143 basesExon 2: 45,398,264–45,398,339, 76 basesExon 1: 45,404,999–45,405,069, 71 bases131210864215′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 3.1 kb of the gene's 25.4 kb; 2,487 of those bases code for the protein.

Sequencing PPP1R13L

8Low

How hard PPP1R13L is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats3.9%
  • GC content77%
  • Reference coverage0%

3

positions in PPP1R13L 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 25.4 kb of PPP1R13L, introns included, not only the 3.1 kb of exons.

Genes linked to the same conditions

Traits linked to PPP1R13L

The Human Phenotype Ontology lists these as features of the rare conditions PPP1R13L 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.
  • GenCC and ClinGen, released 2026-10-17: 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 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.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). PPP1R13L gene: protein phosphatase 1 regulatory subunit 13 like. Retrieved 17 October 2026, from https://dantelabs.com/genes/ppp1r13l

Vancouver

Dante Labs. PPP1R13L gene: protein phosphatase 1 regulatory subunit 13 like [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ppp1r13l

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