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PPP2R2B

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(Redirected from Sca12)
PPP2R2B
Identifiers
AliasesPPP2R2B, B55BETA, PP2AB55BETA, PP2ABBETA, PP2APR55B, PP2APR55BETA, PR2AB55BETA, PR2ABBETA, PR2APR55BETA, PR52B, PR55-BETA, PR55BETA, SCA12, protein phosphatase 2 regulatory subunit Bbeta
External IDsOMIM: 604325; MGI: 1920180; HomoloGene: 55833; GeneCards: PPP2R2B; OMA:PPP2R2B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_027531
NM_028392

RefSeq (protein)

NP_082668
NP_081807
NP_001390894

Location (UCSC)Chr 5: 146.58 – 147.08 MbChr 18: 42.77 – 43.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform is an enzyme that in humans is encoded by the PPP2R2B gene.[5][6]

The product of this gene belongs to the phosphatase 2regulatory 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 the 5' UTR of this gene may cause a rare form of autosomal dominant spinocerebellar ataxia 12.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156475Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024500Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Mayer RE, Hendrix P, Cron P, Matthies R, Stone SR, Goris J, Merlevede W, Hofsteenge J, Hemmings BA (May 1991). "Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform". Biochemistry. 30 (15): 3589–97. doi:10.1021/bi00229a001. PMID 1849734.
  6. ^ Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (Dec 1999). "Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12". Nat Genet. 23 (4): 391–2. doi:10.1038/70493. PMID 10581021. S2CID 33491731.
  7. ^ "Entrez Gene: PPP2R2B protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform".

Further reading

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