Gene
PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
- HGNC 9305↗(opens in a new tab)
- Ensembl gene ENSG00000156475↗(opens in a new tab)
- NCBI Gene 5521↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q32
- Coordinates
- Chromosome 5: 146,580,742–146,878,757 (GRCh38)
- Exons
- 10 exons across 298 kb
- Protein
- 443 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- PR55-BETA, PR52B, B55beta
- Previous symbols
- SCA12
- MANE Select transcript
- ENST00000394411.9NM_181675.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
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 PPP2R2B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 10.8 kb of the gene's 298 kb; 1,332 of those bases code for the protein.
Genes linked to the same conditions
- AFG3L2AFG3 like matrix AAA peptidase subunit 2Shares 1 condition
- ATN1atrophin 1Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- ATXN1ataxin 1Shares 1 condition
- ATXN10ataxin 10Shares 1 condition
- ATXN2ataxin 2Shares 1 condition
- ATXN3ataxin 3Shares 1 condition
- ATXN7ataxin 7Shares 1 condition
- BEAN1brain expressed associated with NEDD4 1Shares 1 condition
- CACNA1Acalcium voltage-gated channel subunit alpha1 AShares 1 condition
- CACNA1Gcalcium voltage-gated channel subunit alpha1 GShares 1 condition
- CAMTA1calmodulin binding transcription activator 1Shares 1 condition
Traits linked to PPP2R2B
The Human Phenotype Ontology lists these as features of the rare conditions PPP2R2B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormality of the cerebellum
- Action tremor
- Ataxia
- Degeneration of cerebellum
- Degeneration of cerebrum
- Increased reflexes
- Parkinsonism
- Tremor of a body part
Show 23 more traits
- Uncoordinated limb movement
- Abnormal gait
- Abnormal pyramidal sign
- Behavioral abnormality
- Cognitive impairment
- Decreased muscle movement
- Dementia
- Intention tremor
- Nerve damage causing decreased feeling and movement
- Poor fine motor coordination
- Postural tremor
- Slow movements
- Unsteady walk
- Anxiety
- Axial dystonia
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delusions
- Depression
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
- Head tremor
- Lack of coordination of movement
- Progressive cerebellar ataxia
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). PPP2R2B gene: protein phosphatase 2 regulatory subunit Bbeta. Retrieved 17 October 2026, from https://dantelabs.com/genes/ppp2r2b
Dante Labs. PPP2R2B gene: protein phosphatase 2 regulatory subunit Bbeta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ppp2r2b
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