PRKD1

Chr 14AD

protein kinase D1

Also known as: CHDED, PKC-MU, PKCM, PKD, PKD1, PRKCM

NCBI Gene: 5587ENSG00000184304UniProt: Q15139OMIM: 605435

The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital heart defects and ectodermal dysplasiaMIM #617364
AD

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ARLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
0
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.52
OE 0.42 (0.29–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.43Z-score
OE missense 0.82 (0.76–0.89)
411 obs / 501.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.29–0.62)
0≤0.351.4
Missense OE?0.82 (0.76–0.89)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 18 / 42.9Missense obs/exp: 411 / 501.2Syn Z: -0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRKD1 · 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