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Gene

PPP1CB

protein phosphatase 1 catalytic subunit beta

Summary

Cytogenetic location
2p23.2
Coordinates
Chromosome 2: 28,751,830–28,802,940 (GRCh38)
Exons
8 exons across 51.1 kb
Protein
327 amino acids
Inheritance
Autosomal dominant
Also known as
PP1Cbeta, PPP1CD, PP1Cdelta, PP1B, PP-1B, PP1beta, PP1c, MP, PPP1beta
MANE Select transcript
ENST00000395366.3NM_002709.3
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

  • Noonan Syndrome

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart, growth and developmental assessment.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 PPP1CB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where PPP1CB sits. PPP1CB and 10 genes near it on chromosome 2, from 28,277,385 to 29,277,384.Chromosome 22p23.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.328.4 Mb28.6 Mb28.8 Mb29 Mb29.2 MbBABAM2: 27,888,667–28,339,184, forward strandBABAM2FOSL2: 28,392,448–28,417,317, forward strandFOSL2PLB1: 28,457,145–28,645,904, forward strandPLB1PPP1CB: 28,751,830–28,802,940, forward strandPPP1CBSPDYA: 28,782,517–28,850,611, forward strandSPDYATRMT61B: 28,798,308–28,870,392, reverse strandTRMT61BWDR43: 28,894,611–28,948,926, forward strandWDR43TOGARAM2: 28,956,506–29,052,236, forward strandTOGARAM2PCARE: 29,060,976–29,074,566, reverse strandPCARECLIP4: 29,095,545–29,199,777, forward strandCLIP4ALK: 29,190,995–29,921,586, reverse strandALKDiagram of PPP1CB: 8 exons on the forward strand of chromosome 2Exon 2: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 28,751,830–28,752,176, 347 basesExon 2: 28,776,851–28,776,982, 132 basesExon 3: 28,778,809–28,779,039, 231 basesExon 4: 28,781,738–28,781,842, 105 basesExon 5: 28,783,907–28,783,978, 72 basesExon 6: 28,788,658–28,788,809, 152 basesExon 7: 28,793,863–28,793,997, 135 basesExon 8: 28,799,199–28,802,940, 3,742 bases123456785′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 4.9 kb of the gene's 51.1 kb; 984 of those bases code for the protein.

How a genome test reads PPP1CB

7

positions in PPP1CB 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 51.1 kb of PPP1CB, introns included, not only the 4.9 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.). PPP1CB gene: protein phosphatase 1 catalytic subunit beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/ppp1cb

Vancouver

Dante Labs. PPP1CB gene: protein phosphatase 1 catalytic subunit beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ppp1cb

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