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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PLEKHA3
pleckstrin homology domain containing A3
Chromosome 2 Β· 2q31.2
NCBI Gene: 65977Ensembl: ENSG00000116095.12HGNC: HGNC:14338UniProt: Q9HB20
27PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidylinositol-4-phosphate bindingprotein bindingmolecular carrier activityidentical protein bindingdilated cardiomyopathy 1Gtype 2 diabetes mellitusheart failureheart disease
✦AI Summary

PLEKHA3 (pleckstrin homology domain containing A3) is a phosphatidylinositol 4-phosphate (PtdIns(4)P)-binding protein that regulates vesicular transport and membrane homeostasis. The protein plays a critical role in vesicular cargo transport from the trans-Golgi network to the plasma membrane and regulates Golgi PtdIns(4)P levels by activating the phosphatase activity of SACM1L when bound to PtdIns(4)P [UniProt]. PLEKHA3 negatively regulates APOB secretion from hepatocytes, suggesting involvement in lipid metabolism [UniProt]. The protein's pleckstrin homology domain enables specific binding to PtdIns(4)P, which is essential for membrane recruitment and coincidence detection mechanisms at cellular membranes. Recent genome-wide association studies have identified PLEKHA3 as a significant genetic locus associated with atrioventricular block, indicating potential roles in cardiac conduction 1. Additionally, PLEKHA3 expression changes have been observed in microglial cells during neuroinflammatory responses, with increased expression noted when TGR5-mediated anti-inflammatory pathways are inhibited in multiple sclerosis models 2. Copy number variants affecting PLEKHA3 have been identified in children with short stature, suggesting possible involvement in growth regulation 3. These findings collectively indicate PLEKHA3's importance in membrane trafficking, metabolic regulation, and potential disease pathogenesis.

Sources cited
1
PLEKHA3 identified as significant genetic locus associated with atrioventricular block in genome-wide association studies
PMID: 40022259
2
PLEKHA3 expression increased in activated microglial cells when TGR5-mediated anti-inflammatory pathways are inhibited in multiple sclerosis models
PMID: 40653076
3
Copy number variants affecting PLEKHA3 identified in children with short stature born small for gestational age
PMID: 25300501
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
dilated cardiomyopathy 1GOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
heart failureOpen Targets
0.12Weak
heart diseaseOpen Targets
0.10Weak
atrial fibrillationOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
atrioventricular blockOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
cardiac arrhythmiaOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
dilated cardiomyopathyOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.03Suggestive
injuryOpen Targets
0.03Suggestive
conduction system disorderOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
TachycardiaOpen Targets
0.03Suggestive
cardioembolic strokeOpen Targets
0.03Suggestive
atrial flutterOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_019091.4(PLEKHA3):c.515A>G (p.Glu172Gly)Pathogenic
Hypercholesterolemia, familial, 1
β˜†β˜†β˜†β˜†2022β†’ Residue 172
View on ClinVar β†—
Related Genes
CELProtein interaction90%GLTPProtein interaction90%PLEKProtein interaction78%PLEK2Protein interaction78%ARF1Protein interaction78%PLEKHJ1Shared pathway75%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
78%
Brain
65%
Ovary
47%
Liver
45%
Lung
38%
Gene Interaction Network
Click a node to explore
PLEKHA3CELGLTPPLEKPLEK2ARF1PLEKHJ1
PROTEIN STRUCTURE
Preparing viewer…
PDB3RCP Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.10Tolerant
Observed/Expected LoF0.44 [0.29–0.69]
RankingsWhere PLEKHA3 stands among ~20K protein-coding genes
  • #12,644of 20,598
    Most Researched27
  • #5,290of 5,498
    Most Pathogenic Variants1
  • #5,269of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedPLEKHA3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic insights into cardiac conduction disorders from genome-wide association studies.
PMID: 40022259
Hum Genomics Β· 2025
1.00
2
Ursodeoxycholic acid alleviates multiple sclerosis via TGR5-dependent microglial regulation in mice.
PMID: 40653076
Eur J Pharmacol Β· 2025
0.90
3
Copy number variants in short children born small for gestational age.
PMID: 25300501
Horm Res Paediatr Β· 2014
0.80
4
Polyphosphoinositide binding domains: Key to inositol lipid biology.
PMID: 25732852
Biochim Biophys Acta Β· 2015
0.70
5
The importance of seeing surface (effects).
PMID: 24607142
Structure Β· 2014
0.60