PPP2R2B wt Allele

Preferred Label : PPP2R2B wt Allele;

NCIt synonyms : PP2APR55B; B55-BETA; PR55-BETA; PR2ABBETA; PR52B; PP2ABBETA; PP2AB55-BETA; PP2APR55-BETA; Protein Phosphatase 2 Regulatory Subunit Bbeta wt Allele; B55BETA; SCA12; PR55BETA; Protein Phosphatase 2, Regulatory Subunit B, Beta Gene; Protein Phosphatase 2 (Formerly 2A), Regulatory Subunit B (PR 52), Beta Isoform Gene; Spinocerebellar Ataxia 12 Gene; PP2APR55BETA; PR2AB55BETA; PR2APR55BETA; PP2AB55BETA; PP2AB-BETA;

NCIt definition : Human PPP2R2B wild-type allele is located in the vicinity of 5q32 and is approximately 504 kb in length. This allele, which encodes serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform protein, is involved in the regulation of protein phosphatase activity. Expansion of a CAG trinucleotide repeat sequence in the 5' UTR of the gene from 7-28 copies to 55-78 copies is associated with autosomal dominant spinocerebellar ataxia 12.;

NCI Metathesaurus CUI : CL1927352;

GenBank Accession Number : M64930;

Details

Origin ID

C204874;

OMIM relation
- Protein phosphatase 2, regulatory subunit b, beta [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q32 [NCIt concept]
gene_is_element_in_pathway
- Chagas Disease Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- DNA Replication [NCIt concept]
- Protein Dephosphorylation [NCIt concept]

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