PPP2R5D

Chr 6

protein phosphatase 2 regulatory subunit B'delta

Also known as: B56D, B56delta, HJS1, MRD35

NCBI Gene: 5528ENSG00000112640UniProt: Q14738

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHouge-Janssens syndrome 1

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
DN*
Mechanism· G2P
📖
GeneReview available — PPP2R5D
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 5.24
OE 0.06 (0.02–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.65Z-score
OE missense 0.45 (0.39–0.51)
155 obs / 345.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.06 (0.02–0.17)
0≤0.351.4
Missense OE?0.45 (0.39–0.51)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 2 / 35.9Missense obs/exp: 155 / 345.9Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP2R5D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients