Gene: PPP2R5D
Alternate names for this Gene: B56D|B56delta|MRD35
Gene 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: protein phosphatase 2 regulatory subunit B'delta
Type of Gene: protein-coding
Gene: MEA1
Alternate names for this Gene: HYS|MEA
Gene Summary:
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: male-enhanced antigen 1
Type of Gene: protein-coding
rs863225080 in
PPP2R5D;MEA1 gene and
Dysmorphic features
PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
PMID 8703017 1996 The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.
PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 26576547 2016 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.
PMID 20017541 2010 Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.
rs863225079 in
PPP2R5D;MEA1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
rs863225082 in
PPP2R5D;MEA1 gene and
Muscle hypotonia
PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 8703017 1996 The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.
PMID 20017541 2010 Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.
PMID 26576547 2016 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
PMID 26168268 2015 B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
PMID 25972378 2015 Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.