PPP1CB wt Allele

Preferred Label : PPP1CB wt Allele;

NCIt synonyms : Protein Phosphatase 1, Catalytic Subunit, Delta Isoform Gene; Protein Phosphatase 1, Catalytic Subunit, Beta Isozyme Gene; PPP1beta; NSLH2; PP1B; PP1c; Protein Phosphatase 1 Catalytic Subunit Beta wt Allele; PP-1B; HEL-S-80p; PP1beta; PPP1CD; Protein Phosphatase 1, Catalytic Subunit, Beta Isoform Gene; MP;

NCIt definition : Human PPP1CB wild-type allele is located in the vicinity of 2p23.2 and is approximately 51 kb in length. This allele, which encodes serine/threonine-protein phosphatase PP1-beta catalytic subunit protein, is involved in cell division, glycogen metabolism, muscle contractility and protein synthesis. Mutation of the gene is associated with Noonan syndrome-like disorder with loose anagen hair 2.;

NCI Metathesaurus CUI : CL1642826;

GenBank Accession Number : NM_002709;

Details

Origin ID

C177107;

UMLS CUI

C5444738;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome-like disorder with loose anagen hair 2 [OMIM Phenotype]
- Protein phosphatase 1, catalytic subunit, beta isoform [OMIM gene]
- medial pallium [UBERON concept]
- occupational diseases [MeSH Descriptor]
- protein phosphatase 1 [MeSH Descriptor]
- protein phosphatase 1 catalytic subunit beta [ORDO Gene]
OMIM relation
- Protein phosphatase 1, catalytic subunit, beta isoform [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- PLK1 Signaling Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- G2 to M Transition Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Protein Synthesis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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