PPP2R5D protein phosphatase 2 regulatory subunit B'delta
Gene ID: 5528, updated on 2-Nov-2024Gene type: protein coding
Also known as: B56D; HJS1; MRD35; B56delta
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- Go to complete Gene record for PPP2R5D
- Go to Variation Viewer for PPP2R5D variants
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 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 delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hogue-Janssens syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-05-26) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2021-05-26) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6p21.1
- Sequence:
- Chromosome: 6; NC_000006.12 (42984570..43012342)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP2R5D 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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