Gene Gene information from NCBI Gene database.
Entrez ID 5527
Gene name Protein phosphatase 2 regulatory subunit B'gamma
Gene symbol PPP2R5C
Synonyms (NCBI Gene)
B56GB56gammaHJS4PR61G
Chromosome 14
Chromosome location 14q32.31
Summary The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 het
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1595460164 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
322
miRTarBase ID miRNA Experiments Reference
MIRT001428 hsa-miR-16-5p pSILAC 18668040
MIRT028561 hsa-miR-30a-5p Proteomics 18668040
MIRT001428 hsa-miR-16-5p Proteomics;Other 18668040
MIRT038933 hsa-miR-31-3p CLASH 23622248
MIRT053099 hsa-miR-135b-5p Luciferase reporter assayqRT-PCRWestern blot 23594704
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000159 Component Protein phosphatase type 2A complex IBA
GO:0000159 Component Protein phosphatase type 2A complex IDA 17174897, 17245430
GO:0000159 Component Protein phosphatase type 2A complex IEA
GO:0000159 Component Protein phosphatase type 2A complex NAS 8703017
GO:0000775 Component Chromosome, centromeric region IDA 16580887
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601645 9311 ENSG00000078304
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13362
Protein name Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform (PP2A B subunit isoform B'-gamma) (PP2A B subunit isoform B56-gamma) (PP2A B subunit isoform PR61-gamma) (PP2A B subunit isoform R5-gamma) (Renal carcinoma antigen NY-REN-29)
Protein function The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphor
PDB 2IAE , 2JAK , 2NPP , 2NYL , 2NYM , 3FGA , 5JJA , 5K6S , 5SW9 , 5SWF , 6OYL , 6TOQ , 6VOY , 6VRO , 7OUF , 7OUG , 7OUH , 7PEL , 7SOY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01603 B56 27 437 Protein phosphatase 2A regulatory B subunit (B56 family) Family
Tissue specificity TISSUE SPECIFICITY: Highest levels in heart, skeletal muscle and brain. Lower levels in pancreas, kidney, lung and placenta. Very low levels in liver.
Sequence
Sequence length 524
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic rs2140903557 RCV001391100
PPP2R5C-related neurodevelopmental disorder Likely pathogenic rs2140903557 RCV005867013
See cases Likely pathogenic rs2140894443 RCV001420312
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Houge-Janssens syndrome 4 Conflicting classifications of pathogenicity rs1595460164 RCV005416119
Intellectual disability Conflicting classifications of pathogenicity rs1595460164 RCV000824839
Macrocephaly-developmental delay syndrome Conflicting classifications of pathogenicity rs1595525363 RCV001776074
Neurodevelopmental disorder Uncertain significance rs367794601 RCV004586500
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Angioedema Associate 34539625
Autoimmune Diseases Associate 34539625
Chronic Urticaria Associate 34539625
Colorectal Neoplasms Associate 34680934, 37728516, 39199384, 40307680
Colorectal Neoplasms Hereditary Nonpolyposis Associate 37728516
Diabetes Mellitus Type 1 Associate 34006268
Endometrial Neoplasms Associate 22653804, 37728516
Heart Diseases Associate 30212560
Irritable Bowel Syndrome Associate 27445342
Leukemia Associate 21548944, 23941244