PPP2R5C Chromosome 14
Protein phosphatase 2 regulatory subunit B'gamma
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What This Gene Does
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 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 gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
14q32.31
Ensembl
ENSG00000078304
Associated Conditions (6)
Intellectual disability
Houge-Janssens syndrome 4
Macrocephaly-developmental delay syndrome
See cases
Global developmental delay
PPP2R5C-related neurodevelopmental disorder
Key Variants
RS147942579
Conflicting classifications of pathogenicity
Health Risk
RS1595460164
Conflicting classifications of pathogenicity
Intellectual disability, Houge-Janssens syndrome 4, Intellectual disability
Health Risk
RS1595525363
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
Health Risk
RS2140894443
Likely pathogenic
See cases, See cases
Health Risk
RS2140903557
Likely pathogenic
Global developmental delay, PPP2R5C-related neurodevelopmental disorder, Global developmental delay
Health Risk
RS869320755
Pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147942579 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1595460164 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Houge-Janssens syndrome 4, Intellectual disability |
| RS1595525363 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS2140894443 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2140903557 | Health Risk | Likely pathogenic | Global developmental delay, PPP2R5C-related neurodevelopmental disorder, Global developmental delay |
| RS869320755 | Health Risk | Pathogenic | — |