PPP2R1A protein phosphatase 2 scaffold subunit Aalpha
Gene ID: 5518, updated on 15-Oct-2024Gene type: protein coding
Also known as: HJS2; MRD36; PP2AA; PR65A; PP2AAALPHA; PP2A-Aalpha
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- Go to complete Gene record for PPP2R1A
- Go to Variation Viewer for PPP2R1A variants
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. [provided by RefSeq, Apr 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Houge-Janssens syndrome 2 | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2023-12-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2023-12-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 19q13.41
- Sequence:
- Chromosome: 19; NC_000019.10 (52190052..52229518)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP2R1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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