PPP2R1A Chromosome 19

Protein phosphatase 2 scaffold subunit Aalpha
34 variants 34 Health Risk

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What This Gene Does
This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19q13.41
Ensembl
ENSG00000105568
Associated Conditions (9)
Houge-Janssens syndrome 2
Inborn genetic diseases
See cases
Intellectual disability
PPP2R1A-related disorder
Neurodevelopmental disorder
Neoplasm
Colon adenocarcinoma
PPP2R1A-related neurodevelopmental disorders
Key Variants
RS1064797248
Conflicting classifications of pathogenicity
Health Risk
RS1369485535
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
Health Risk
RS1369744426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1379445826
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
Health Risk
RS1474301500
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2089667956
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
Health Risk
RS2089686081
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, See cases, Houge-Janssens syndrome 2
Health Risk
RS2089688265
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
Health Risk
RS2122329969
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
Health Risk
RS2122350869
Conflicting classifications of pathogenicity
Health Risk
RS2122360528
Conflicting classifications of pathogenicity
Health Risk
RS2514067613
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (34)
RSID Category Clinical Significance Conditions
RS1064797248 Health Risk Conflicting classifications of pathogenicity —
RS1369485535 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1369744426 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379445826 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1474301500 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2089667956 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2089686081 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, See cases, Houge-Janssens syndrome 2
RS2089688265 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122329969 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122350869 Health Risk Conflicting classifications of pathogenicity —
RS2122360528 Health Risk Conflicting classifications of pathogenicity —
RS2514067613 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372716916 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
RS749322788 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754810094 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769334090 Health Risk Conflicting classifications of pathogenicity —
RS778543586 Health Risk Conflicting classifications of pathogenicity —
RS950558629 Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS969720045 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057519947 Health Risk Likely pathogenic Houge-Janssens syndrome 2, Intellectual disability, Inborn genetic diseases
RS1600167934 Health Risk Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1600167941 Health Risk Likely pathogenic PPP2R1A-related disorder, Houge-Janssens syndrome 2, See cases
RS1978897991 Health Risk Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122334423 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2514079238 Health Risk Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS546812521 Health Risk Likely pathogenic Houge-Janssens syndrome 2, Neoplasm, Houge-Janssens syndrome 2
RS2122334663 Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122337413 Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2514094817 Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1057519946 Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Colon adenocarcinoma, Houge-Janssens syndrome 2
RS1555791268 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Houge-Janssens syndrome 2, PPP2R1A-related disorder
RS786205227 Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Inborn genetic diseases, Houge-Janssens syndrome 2
RS786205228 Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Inborn genetic diseases, PPP2R1A-related neurodevelopmental disorders
RS863225094 Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
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