Home > Gene Browser > PPP2R2B

PPP2R2B

Synonyms
B55BETA, PP2AB55BETA, PP2ABBETA, PP2APR55B, PP2APR55BETA, PR2AB55BETA, PR2ABBETA, PR2APR55BETA, PR52B, PR55-BETA, PR55BETA, SCA12
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 beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12.

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
12
Likely pathogenic
0
VUS
2,774
Likely benign
994
Benign
4,474

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on PPP2R2B gene are displayed below. The following symptoms were found in patients with a variant in PPP2R2B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
27.3%
Abnormality of limbs
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the nervous system
18.2%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of metabolism homeostasis
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the musculoskeletal system
9.1%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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