HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLEKHA5
pleckstrin homology domain containing A5
Chromosome 12 · 12p12.3
NCBI Gene: 54477Ensembl: ENSG00000052126.17HGNC: HGNC:30036UniProt: A0A8V8TQ09
103PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranecytosolprotein bindingphosphatidylinositol-3,5-bisphosphate bindingsmoking initiationArthropathyVertigocleft lip
✦AI Summary

PLEKHA5 (pleckstrin homology domain containing A5) is a cytosolic adaptor protein with dual phosphoinositide-binding capabilities that regulates multiple cellular processes. The protein contains pleckstrin homology (PH) and WW domains 1, with the PH domain specifically binding phosphatidylinositol-3-phosphate, phosphatidylinositol-4-phosphate, phosphatidylinositol-5-phosphate, and phosphatidylinositol-3,5-bisphosphate 1. PLEKHA5 exists as developmentally regulated short and long isoforms, with the long form becoming dominant during brain maturation 1. Mechanistically, PLEKHA5 functions through protein-protein interactions, binding PDZD11 via its WW domain to recruit and target the Menkes ATPase ATP7A to the plasma membrane for copper efflux 2. During mitosis, PLEKHA5 undergoes phosphorylation-controlled relocalization to the plasma membrane, enabling recruitment of functional cargo proteins without exogenous stimuli 3. Disease relevance is substantial across multiple conditions. PLEKHA5 variants associate with acute tubulointerstitial nephritis susceptibility (rs2417771, P=2.14×10⁻⁸) 4. In melanoma, PLEKHA5 promotes malignancy through the TNFα-activated PLEKHA5-FCRLA axis, which disturbs lipid metabolism 5. PLEKHA5 expression correlates with melanoma brain metastasis propensity and promotes blood-brain barrier transmigration 6; conversely, PLEKHA5 acts as a tumor metastasis suppressor in BRCA1-deficient breast cancer 7. PLEKHA5 regulates melanoma proliferation via PI3K/AKT/mTOR signaling and PDCD4 stability 8.

Sources cited
1
PLEKHA5 contains WW and PH domains, exists as developmentally regulated isoforms, and PH domain binds specific phosphoinositides (PI3P, PI4P, PI5P, PI(3,5)P2)
PMID: 22037487
2
PLEKHA5 binds PDZD11 through WW domain and recruits ATP7A to plasma membrane for copper efflux regulation
PMID: 34613798
3
PLEKHA5 undergoes phosphorylation-controlled cell cycle-dependent relocalization to plasma membrane during mitosis
PMID: 39209962
4
PLEKHA5 variant rs2417771 (12p12.3) associates with acute tubulointerstitial nephritis susceptibility (P=2.14×10⁻⁸)
PMID: 36749126
5
TNFα activation of PLEKHA5-FCRLA axis enhances lipid metabolism and promotes cutaneous melanoma progression
PMID: 40462127
6
PLEKHA5 expression associates with melanoma brain metastasis propensity and promotes blood-brain barrier transmigration
PMID: 25316811
7
PLEKHA5 regulates melanoma proliferation through PI3K/AKT/mTOR pathway signaling and PDCD4 stability
PMID: 31769872
8
PLEKHA5 functions as tumor metastasis suppressor in BRCA1-associated breast cancer
PMID: 32978388
Disease Associationsⓘ20
smoking initiationOpen Targets
0.40Moderate
ArthropathyOpen Targets
0.34Weak
VertigoOpen Targets
0.33Weak
cleft lipOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
substance abuseOpen Targets
0.31Weak
lung adenocarcinomaOpen Targets
0.30Weak
osteoarthritisOpen Targets
0.30Weak
kidney diseaseOpen Targets
0.30Weak
gastrointestinal diseaseOpen Targets
0.29Weak
obesityOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.27Weak
sialolithiasisOpen Targets
0.24Weak
type 1 diabetes nephropathyOpen Targets
0.20Weak
parasitic infectionOpen Targets
0.20Weak
psoriatic arthritisOpen Targets
0.18Weak
melanomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Abdominal Aortic AneurysmOpen Targets
0.05Suggestive
Pathogenic Variants2
NM_001256470.2(PLEKHA5):c.185G>A (p.Trp62Ter)Pathogenic
Hypercholesterolemia, familial, 1
☆☆☆☆2022→ Residue 62
NM_001256470.2(PLEKHA5):c.1787A>G (p.Tyr596Cys)Likely pathogenic
Cleft lip with or without cleft palate
☆☆☆☆→ Residue 596
View on ClinVar ↗
Related Genes
PDZD11Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Ovary
46%
Liver
23%
Brain
20%
Bone Marrow
16%
Lung
13%
Gene Interaction Network
Click a node to explore
PLEKHA5PDZD11
PROTEIN STRUCTURE
Preparing viewer…
PDB2DKP · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.37]
RankingsWhere PLEKHA5 stands among ~20K protein-coding genes
  • #4,659of 20,598
    Most Researched103 · top quartile
  • #4,314of 5,498
    Most Pathogenic Variants2
  • #1,704of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedPLEKHA5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-Wide Association Study in Acute Tubulointerstitial Nephritis.
PMID: 36749126
J Am Soc Nephrol · 2023
1.00
2
A phosphorylation-controlled switch confers cell cycle-dependent protein relocalization.
PMID: 39209962
Nat Cell Biol · 2024
0.90
3
TNFα activation of the PLEKHA5-FCRLA axis disturbs lipid metabolism, leading to the progression of cutaneous malignant melanoma.
PMID: 40462127
Lipids Health Dis · 2025
0.80
4
Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development.
PMID: 22037487
Gene · 2012
0.70
5
PLEKHA5 regulates tumor growth in metastatic melanoma.
PMID: 31769872
Cancer · 2020
0.60