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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PALMD
palmdelphin
Chromosome 1 · 1p21.2
NCBI Gene: 54873Ensembl: ENSG00000099260.13HGNC: HGNC:15846UniProt: A0A0S2Z5E7
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin cytoskeletonprotein bindingcytoplasmdendritic spineatrial fibrillationaortic stenosisaortic valve calcificationheart disease
✦AI Summary

PALMD (palmdelphin) is a cytoskeletal regulator predominantly expressed in endothelial cells of cardiovascular tissues with critical roles in both cardiac and valvular function. 1 The protein exists as a cytosolic PALMD-KKVI splice variant that interacts with RANGAP1, regulating nucleocytoplasmic transport via the RAN-XPO1 pathway and affecting localization of transcriptional regulators p53 and p21. 1 Mechanically, PALMD enables formation of a protective perinuclear actin cap in endothelial cells exposed to flow stress, maintaining proper nuclear alignment. 1 In cardiac tissue, PALMD functions as a Z-disc-associated protein that stabilizes nexilin (NEXN), a critical component of junctional membrane complexes essential for calcium handling. 2 PALMD-deficient cardiomyocytes show compromised protection against isoproterenol-induced cardiac injury. 2 Disease relevance is substantial: reduced PALMD expression is a strong genetic risk factor for calcific aortic valve stenosis (CAVS), identified through genome-wide association studies. 3 Mechanistically, PALMD promotes CAVS pathogenesis through dual pathways—regulation of PFKFB3-mediated glycolysis and NF-κB-mediated inflammation in valve interstitial cells. 4 PALMD represents an AS-specific genetic risk locus distinct from coronary artery disease risk factors. 3 5 Outside cardiovascular contexts, PALMD shows anti-proliferative roles in breast cancer via PI3K/Akt pathway suppression. 6

Sources cited
1
PALMD regulates nucleocytoplasmic transport through RANGAP1-RAN-XPO1 pathway and enables actin cap formation protecting against mechanical stress in endothelial cells
PMID: 34636652
2
PALMD promotes CAVS pathogenesis through PFKFB3-mediated glycolysis and NF-κB-mediated inflammation in valve interstitial cells
PMID: 35367413
3
PALMD is identified as an AS-specific genetic risk locus distinct from coronary artery disease risk factors
PMID: 39504041
4
PALMD is a Z-disc-associated protein that stabilizes nexilin and protects cardiomyocytes against isoproterenol-induced cardiac injury
PMID: 39043970
5
PALMD was discovered as a CAVS-causing gene through transcriptome-wide association studies with reduced expression conferring disease risk
PMID: 30608251
6
PALMD has anti-proliferative effects in breast cancer through PI3K/Akt pathway suppression
PMID: 37556876
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.51Moderate
aortic stenosisOpen Targets
0.39Weak
aortic valve calcificationOpen Targets
0.37Weak
heart diseaseOpen Targets
0.36Weak
heart valve diseaseOpen Targets
0.32Weak
heart valve prosthesisOpen Targets
0.30Weak
Ventricular Outflow ObstructionOpen Targets
0.29Weak
congenital anomaly of the great arteriesOpen Targets
0.27Weak
aortic valve diseaseOpen Targets
0.27Weak
abnormal chest soundsOpen Targets
0.26Weak
congenital left-sided heart lesionsOpen Targets
0.26Weak
sialadenitisOpen Targets
0.26Weak
kidney diseaseOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.25Weak
thoracic aortic aneurysmOpen Targets
0.25Weak
congenital anomaly of cardiovascular systemOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
rheumatic heart diseaseOpen Targets
0.22Weak
cerebrovascular disorderOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PALM2AKAP2Shared pathway100%TBCCD1Shared pathway50%BRWD1Shared pathway50%BRWD3Shared pathway50%COCHShared pathway50%FAM171A1Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Liver
25%
Ovary
17%
Lung
12%
Brain
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PALMDPALM2AKAP2TBCCD1BRWD1BRWD3COCHFAM171A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NP74
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.47–0.96]
RankingsWhere PALMD stands among ~20K protein-coding genes
  • #12,410of 20,598
    Most Researched28
  • #9,107of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedPALMD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
PMID: 34636652
Circulation · 2021
1.00
2
PALMD regulates aortic valve calcification via altered glycolysis and NF-κB-mediated inflammation.
PMID: 35367413
J Biol Chem · 2022
0.90
3
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.
PMID: 39504041
JAMA Cardiol · 2025
0.80
4
PALMD as a novel target for calcific aortic valve stenosis.
PMID: 30608251
Curr Opin Cardiol · 2019
0.70
5
Genetics of aortic valve disease.
PMID: 36789772
Curr Opin Cardiol · 2023
0.60