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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHA8
pleckstrin homology domain containing A8
Chromosome 7 · 7p14.3
NCBI Gene: 84725Ensembl: ENSG00000106086.21HGNC: HGNC:30037UniProt: A0A087X1S6
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingglycolipid transfer activitysmall GTPase bindingglycolipid bindingarthritishepatocellular carcinomarenal hypodysplasia/aplasia 3Testicular regression syndrome
✦AI Summary

PLEKHA8 (pleckstrin homology domain containing A8) is a cargo transport protein essential for intracellular lipid trafficking and membrane organization. Its primary function involves mediating non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network to the plasma membrane, a process requiring binding of both phosphatidylinositol 4-phosphate and ARF1 1. PLEKHA8 also transports aquaporin-2 (AQP2) from the trans-Golgi network to phosphorylation sites and is required for primary cilium formation, potentially through raft lipid transport to the apical membrane 2. Mechanistically, PLEKHA8 operates through a unique GLTP-fold structural domain specific for glycosphingolipid binding and transfer 2. The protein plays a pivotal role in complex glycosphingolipid synthesis by channeling GlcCer to distinct glycosylation pathways 1. Clinically, PLEKHA8 has emerged as an oncogene implicated in both colorectal and hepatocellular carcinoma, where its dysregulated expression affects chemoresistance to 5-fluorouracil 3. Additionally, PLEKHA8 genetic variants have been associated with glucocorticoid sensitivity in acute lymphoblastic leukemia 4 and identified as potential functional variants for thyroid cancer susceptibility through m6A methylation regulation 5. These findings suggest PLEKHA8 as a potential therapeutic target in cancer treatment.

Sources cited
1
PLEKHA8/FAPP2 mediates non-vesicular GlcCer transport from cis-Golgi to trans-Golgi network and channels GlcCer to distinct glycosylation pathways
PMID: 23913272
2
PLEKHA8/FAPP2 contains unique GLTP-fold for binding and transporting glycosphingolipids and was characterized as member of pleckstrin homology domain-containing family A
PMID: 26234207
3
PLEKHA8 is a well-studied transport protein in Golgi complex implicated as oncogene in colorectal and liver cancer, and its dysregulated expression affects 5-FU-induced chemoresistance in HCC
PMID: 34299245
4
SNP rs11982167 in PLEKHA8 gene shows suggestive association with NR3C1 gene expression and glucocorticoid sensitivity in acute lymphoblastic leukemia
PMID: 33002292
5
PLEKHA8 identified as thyroid cancer-associated m6A-related genetic susceptibility gene through genome-wide SNP analysis
PMID: 34873468
6
PLEKHA8 identified as novel gene associated with colorectal cancer, located in region of chromosomal gain
PMID: 24204606
Disease Associationsⓘ20
arthritisOpen Targets
0.25Weak
hepatocellular carcinomaOpen Targets
0.05Suggestive
renal hypodysplasia/aplasia 3Open Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.04Suggestive
Mayer-Rokitansky-Kuster-Hauser syndromeOpen Targets
0.04Suggestive
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
0.04Suggestive
Mayer-Rokitansky-Kuster-Hauser syndrome type 1Open Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
polycystic kidney disease 7Open Targets
0.04Suggestive
Infundibulopelvic stenosis - multicystic kidneyOpen Targets
0.03Suggestive
infundibulopelvic stenosis-multicystic kidney syndromeOpen Targets
0.03Suggestive
nephronophthisis 20Open Targets
0.03Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.03Suggestive
renal dysplasiaOpen Targets
0.03Suggestive
Meckel syndrome, type 9Open Targets
0.03Suggestive
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contracturesOpen Targets
0.03Suggestive
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CELProtein interaction89%ARF1Protein interaction72%PI4KBProtein interaction72%GLTPShared pathway43%CPTPShared pathway33%ESYT1Shared pathway29%
Tissue Expression6 tissues
Brain
100%
Ovary
100%
Lung
70%
Liver
70%
Heart
67%
Bone Marrow
53%
Gene Interaction Network
Click a node to explore
PLEKHA8CELARF1PI4KBGLTPCPTPESYT1
PROTEIN STRUCTURE
Preparing viewer…
PDB5KDI · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.42–0.76]
RankingsWhere PLEKHA8 stands among ~20K protein-coding genes
  • #11,034of 20,598
    Most Researched35
  • #6,060of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedPLEKHA8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 34299245
Int J Mol Sci · 2021
1.00
2
Specificity of the mammalian glycolipid transfer proteins.
PMID: 26234207
Chem Phys Lipids · 2016
0.90
3
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.
PMID: 39587297
EMBO J · 2024
0.80
4
Genome-wide identification of m6A-associated functional SNPs as potential functional variants for thyroid cancer.
PMID: 34873468
Am J Cancer Res · 2021
0.70
5
Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells.
PMID: 33002292
J Cell Mol Med · 2020
0.60