Gene: PPP2R1A

Alternate names for this Gene: MRD36|PP2A-Aalpha|PP2AA|PP2AAALPHA|PR65A

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.41

Description of this Gene: protein phosphatase 2 scaffold subunit Aalpha

Type of Gene: protein-coding

rs1057519946 in PPP2R1A gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs863225094 in PPP2R1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

rs1057519946 in PPP2R1A gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519946 in PPP2R1A gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.