PPP2R5D

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform is an enzyme that in humans is encoded by the PPP2R5D gene.^[5][6] Mutations in PPP2R5D cause Jordan's syndrome.

PPP2R5D
Identifiers
Aliases	PPP2R5D, B56D, MRD35, protein phosphatase 2 regulatory subunit B'delta, B56delta
External IDs	OMIM: 601646; MGI: 2388481; HomoloGene: 37661; GeneCards: PPP2R5D; OMA:PPP2R5D - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.1 Start 42,984,553 bp[1] End 43,012,342 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 22.9 cM|17 C Start 46,993,917 bp[2] End 47,016,037 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone prefrontal cortex smooth muscle tissue right hemisphere of cerebellum stromal cell of endometrium right frontal lobe pancreatic ductal cell gastrocnemius muscle muscle of thigh Top expressed in tail of embryo yolk sac genital tubercle ventricular zone dentate gyrus of hippocampal formation granule cell superior frontal gyrus epiblast neural layer of retina maxillary prominence medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein serine/threonine phosphatase activity protein binding protein phosphatase regulator activity phosphoprotein phosphatase activity protein phosphatase activator activity Cellular component cytoplasm cytosol protein phosphatase type 2A complex nucleoplasm nucleus Biological process nervous system development signal transduction positive regulation of protein dephosphorylation protein dephosphorylation regulation of phosphoprotein phosphatase activity negative regulation of peptidyl-threonine phosphorylation regulation of protein autophosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5528 21770 Ensembl ENSG00000112640 ENSMUSG00000059409 UniProt Q14738 n/a RefSeq (mRNA) NM_180977 NM_001270476 NM_006245 NM_180976 NM_009358 NM_001357684 RefSeq (protein) NP_001257405 NP_006236 NP_851307 NP_851308 n/a Location (UCSC) Chr 6: 42.98 – 43.01 Mb Chr 17: 46.99 – 47.02 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Interactions

PPP2R5D has been shown to interact with:

• HAND2,^[7]
• PPP2CA,^[8][9]
• PPP2R1B,^[8] and
• liprin-alpha-1.^[10]