PDE4DIP

Chr 1

phosphodiesterase 4D interacting protein

Also known as: CMYA2, MMGL

NCBI Gene: 9659ENSG00000178104UniProt: Q5VU43

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 3.13
OE 0.68 (0.56–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.40Z-score
OE missense 1.12 (1.07–1.18)
1136 obs / 1010.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.68 (0.56–0.82)
0≤0.351.4
Missense OE?1.12 (1.07–1.18)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 76 / 111.7Missense obs/exp: 1136 / 1010.5Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDE4DIP · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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