HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRKD1
protein kinase D1
Chromosome 14 · 14q12
NCBI Gene: 5587Ensembl: ENSG00000184304.17HGNC: HGNC:9407UniProt: F8WBA3
244PubMed Papers
21Diseases
5Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Kinase
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of angiogenesiscellular response to hydroperoxidephosphatidylinositol 3-kinase activator activitypositive regulation of endothelial cell proliferationcongenital heart defects and ectodermal dysplasiaacute myeloid leukemiaatrial fibrillationsystemic mastocytosis
✦AI Summary

PRKD1 encodes protein kinase D1, a serine/threonine kinase that serves as a critical signaling hub in multiple cellular processes. The protein functions downstream of protein kinase C (PKC) to transduce diacylglycerol signals, regulating diverse pathways including NF-κB activation, MAPK signaling, and Golgi membrane trafficking 1. PRKD1 plays essential roles in maintaining endothelial barrier integrity through phosphorylation of α-catenin at Thr654, which regulates adherens junction stability and vascular permeability 2. In cancer biology, PRKD1 is a direct transcriptional target of Twist1 and is required for epithelial dissemination and metastasis in breast cancer models 3. The gene is also targeted by oncogenic KRas-NF-κB signaling in pancreatic cancer, linking it to oncogenic processes 1. PRKD1 expression is regulated by transcription factors Sp1, Sp3, and NF-κB-p65, with epigenetic mechanisms including DNA methylation and histone modifications controlling its expression 4. Clinically, PRKD1 mutations cause telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome, characterized by congenital heart defects, ectodermal dysplasia, and neurodevelopmental disorders 56. The protein also shows protective functions in dopaminergic neurons against oxidative stress, suggesting roles in neurodegeneration 4.

Sources cited
1
PRKD1 promoter is targeted by oncogenic KRas-NF-κB signaling in pancreatic cancer
PMID: 27649783
2
PRKD1 regulates endothelial barrier integrity through α-catenin phosphorylation at Thr654
PMID: 36899839
3
PRKD1 is a direct transcriptional target of Twist1 and required for epithelial dissemination in breast cancer
PMID: 31676574
4
PRKD1 expression is regulated by Sp1, Sp3, NF-κB-p65 transcription factors and epigenetic mechanisms
PMID: 26230914
5
PRKD1 mutations cause TEBC syndrome with cardiac defects, ectodermal dysplasia, and neurodevelopmental disorders
PMID: 38677542
6
PRKD1 mutations identified as genome-wide significant cause of syndromic congenital heart defects
PMID: 27479907
Disease Associationsⓘ21
congenital heart defects and ectodermal dysplasiaOpen Targets
0.71Strong
acute myeloid leukemiaOpen Targets
0.58Moderate
atrial fibrillationOpen Targets
0.48Moderate
systemic mastocytosisOpen Targets
0.48Moderate
mast-cell leukemiaOpen Targets
0.47Moderate
MastocytosisOpen Targets
0.46Moderate
schizophreniaOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
intelligenceOpen Targets
0.44Moderate
neoplasmOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
heart failureOpen Targets
0.38Weak
acute myeloid leukemia by FAB classificationOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.35Weak
bladder calculusOpen Targets
0.34Weak
nephrolithiasisOpen Targets
0.33Weak
metabolic syndromeOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.30Weak
smoking initiationOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
Congenital heart defects and ectodermal dysplasiaUniProt
Pathogenic Variants10
NM_002742.3(PRKD1):c.1783G>A (p.Gly595Arg)Likely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2026→ Residue 595
NM_002742.3(PRKD1):c.1807C>T (p.Arg603Cys)Likely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2026→ Residue 603
NM_002742.3(PRKD1):c.2026_2038del (p.Gly676fs)Likely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2025→ Residue 676
NM_002742.3(PRKD1):c.1906-1G>TLikely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2025
NM_002742.3(PRKD1):c.1841T>C (p.Ile614Thr)Likely pathogenic
not specified
★☆☆☆2025→ Residue 614
NM_002742.3(PRKD1):c.265-1G>TLikely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2024
NM_002742.3(PRKD1):c.1905+2T>ALikely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2022
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)Likely pathogenic
Congenital heart defects and ectodermal dysplasia
★☆☆☆2019→ Residue 439
NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)Pathogenic
Congenital heart defects and ectodermal dysplasia
☆☆☆☆2017→ Residue 592
NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)Pathogenic
Congenital heart defects and ectodermal dysplasia
☆☆☆☆2017→ Residue 299
View on ClinVar ↗
Drug Targets5
CEP-2563Phase I
Protein kinase C (PKC) inhibitor
GSK-690693Phase I
Protein kinase C (PKC) inhibitor
MIDOSTAURINApproved
Tyrosine-protein kinase receptor FLT3 inhibitor
mast-cell leukemia
SOTRASTAURINPhase II
Protein kinase C (PKC) inhibitor
kidney transplant
UCN-01Phase II
3-phosphoinositide dependent protein kinase-1 inhibitor
non-small cell lung carcinoma
Related Genes
TLN2Protein interaction100%HCLS1Protein interaction99%TLN1Protein interaction98%PRKCAProtein interaction96%ITGB2Protein interaction93%ITGB1Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Brain
45%
Lung
41%
Heart
29%
Liver
13%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
PRKD1TLN2HCLS1TLN1PRKCAITGB2ITGB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15139
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.47–0.76]
RankingsWhere PRKD1 stands among ~20K protein-coding genes
  • #1,596of 20,598
    Most Researched244 · top 10%
  • #829of 1,025
    FDA-Approved Drug Targets1
  • #2,826of 5,498
    Most Pathogenic Variants10
  • #6,110of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedPRKD1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression.
PMID: 35965273
Nat Commun · 2022
1.00
2
Polymorphous Adenocarcinoma.
PMID: 33526217
Surg Pathol Clin · 2021
0.90
3
Endothelial Protein kinase D1 is a major regulator of post-traumatic hyperinflammation.
PMID: 36936923
Front Immunol · 2023
0.84
4
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
PMID: 27479907
Nat Genet · 2016
0.80
5
Molecular cloning, epigenetic regulation, and functional characterization of Prkd1 gene promoter in dopaminergic cell culture models of Parkinson's disease.
PMID: 26230914
J Neurochem · 2015
0.70