RBCC Red Blood Cell Collection

2ABB_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PPP2R2B
Protein names and data: 2ABB_HUMAN , Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform , PP2A subunit B isoform B55-beta; PP2A subunit B isoform PR55-beta; PP2A subunit B isoform R2-beta; PP2A subunit B isoform beta Lenght: 443 a.a.
Mass: 51710 Da
fasta formatted sequence
Function: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity).
Disease: ( OMIM: 604325 604326 ) Spinocerebellar ataxia 12 (SCA12) [MIM:604326]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform 1: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Membrane (By similarity). Isoform 2: Cytoplasm (By similarity). Mitochondrion (By similarity). Mitochondrion outer membrane (By similarity). Note=Under basal conditions, localizes to both cytosolic and mitochondrial compartments. Relocalizes from the cytosolic to the mitochondrial compartment during apoptosis. Its targeting to the outer mitochondrial membrane (OMM) involves an association with import receptors of the TOM complex and is required to promote proapoptotic activity (By similarity).
Tissue specificity: Brain.

Genetic variants

36 - 36 G -> V (in dbSNP:rs11547494). VAR_051738 11547494

Database cross-references

UniProt: Q00005
Ensembl: ENST00000336640
Ensembl: ENST00000356826
Ensembl: ENST00000394409
Ensembl: ENST00000394410
Ensembl: ENST00000394411
Ensembl: ENST00000394413
Ensembl: ENST00000394414
Ensembl: ENST00000453001
Ensembl: ENST00000504198
Ensembl: ENST00000508545
MIM: 604325
MIM: 604326
neXtProt: NX_Q00005
Antibodypedia: Q00005 (may not find the protein thus also not any antibody)
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