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]

248
ClinVar variants
75
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PDE4DIP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
75 Pathogenic / Likely Pathogenic· 23 VUS of 248 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.82LOEUF
pLI 0.000
Z-score 3.13
OE 0.68 (0.56–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.40Z-score
OE missense 1.12 (1.07–1.18)
1136 obs / 1010.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.68 (0.56–0.82)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.12 (1.07–1.18)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 76 / 111.7Missense obs/exp: 1136 / 1010.5Syn Z: 0.27

ClinVar Variant Classifications

248 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic11
VUS23
Likely Benign16
Benign9
64
Pathogenic
11
Likely Pathogenic
23
VUS
16
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
63
0
64
Likely Pathogenic
0
2
9
0
11
VUS
0
1
21
1
23
Likely Benign
0
1
1
14
16
Benign
1
3
5
0
9
Total189915123

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis.
Pan R et al.·Cell Death Dis
2023
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.
Abou Ziki MD et al.·Hum Mutat
2021
Exploration of Novel Genetic Evidence and Clinical Significance Into Hemifacial Microsomia Pathogenesis.
Wang X et al.·J Craniofac Surg
2023
Clinical and genomic analyses of neuroendocrine neoplasms of the breast.
Wei Y et al.·Mod Pathol
2022
Genomic alterations and clinical outcomes in patients with dedifferentiated liposarcoma.
Jagosky MH et al.·Cancer Med
2023Cohort
Screening of Candidate Pathogenic Genes for Spontaneous Abortion Using Whole Exome Sequencing.
Zhu Q et al.·Comb Chem High Throughput Screen
2022
Cell-free DNA profiles of dermatomyositis and its potential role in discriminating phenotypes.
Tang ZL et al.·Front Immunol
2025
The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma.
Ding Y et al.·PeerJ
2022
Spectrum of gene mutations identified by targeted next-generation sequencing in Chinese leukemia patients.
Yao H et al.·Mol Genet Genomic Med
2020Cohort
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.·Cancer Biomark
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
PM2.5 promotes non-small cell lung cancer tumorigenesis by miR-21-5p targeting PDE4DIP accumulated.
Lin YJ et al.·Transl Cancer Res
2025🔓 Open Access
Circular RNA Pde4dip regulates myogenesis by interacting with Zfp143 mRNA: a novel regulatory axis.
Singh S et al.·RNA Biol
2025🔓 Open Access
Dysfunction of PDE4DIP contributes to LVNC development by regulating cell polarity, skeleton, and energy metabolism via Rho-ROCK pathway.
Gu W et al.·Genes Dis
2025🔓 Open Access
The PDE4DIP-AKAP9 axis promotes lung cancer growth through modulation of PKA signalling.
Fu Y et al.·Commun Biol
2025🔓 Open Access
Pan-cancer analysis of the PDE4DIP gene with potential prognostic and immunotherapeutic values in multiple cancers including acute myeloid leukemia.
Li Q et al.·Open Med (Wars)
2023🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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