PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E
Gene ID: 22843, updated on 2-Nov-2024Gene type: protein coding
Also known as: POPX1; PP2CH; caMKN; CAMKPN; CaMKP-N
- See all available tests in GTR for this gene
- Go to complete Gene record for PPM1E
- Go to Variation Viewer for PPM1E variants
Summary
This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. GeneReviews: Not available | |
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. GeneReviews: Not available | |
Meta-analysis identifies four new loci associated with testicular germ cell tumor. GeneReviews: Not available |
Genomic context
- Location:
- 17q22
- Sequence:
- Chromosome: 17; NC_000017.11 (58755854..58985179)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PPM1E variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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