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PPP2R2C

Synonyms
B55-GAMMA, B55gamma, IMYPNO, IMYPNO1, PR52, PR55G
External resources
Summary
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
20,168
Likely benign
408
Benign
0

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on PPP2R2C gene are displayed below. The following symptoms were found in patients with a variant in PPP2R2C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the digestive system
50%
Abnormality of blood and blood forming tissues
25%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of metabolism homeostasis
25%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Abnormality of the respiratory system
25%
Neoplasm
25%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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