HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 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.
PLCXD1
phosphatidylinositol specific phospholipase C X domain containing 1
Chromosome X|Y · X;Y
NCBI Gene: 55344Ensembl: ENSG00000182378.16HGNC: HGNC:23148UniProt: Q9NUJ7
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphoric diester hydrolase activitylipid metabolic processcytoplasmesophageal squamous cell carcinomaMeckel syndrome, type 1psoriasiscolorectal cancer
✦AI Summary

PLCXD1 (phosphatidylinositol-specific phospholipase C X domain containing 1) is a phosphoric diester hydrolase located on the X/Y pseudoautosomal regions 1. The gene encodes a phosphatidylinositol-specific phospholipase C (PI-PLC) that cleaves membrane-bound proteins. In myalgic encephalomyelitis (ME), PLCXD1 expression is significantly elevated, correlating with enhanced cleavage of membrane-bound SMPDL3B and immune dysregulation; notably, PLCXD1 shows sex-specific regulation influenced by estrogen 2. PLCXD1 functions as a biomarker in sepsis pathophysiology, with molecular docking studies demonstrating strong binding affinity to baicalein, suggesting it may be targeted therapeutically to reduce inflammatory endothelial cell dysfunction 3. As a microRNA target, PLCXD1 is regulated by miR-575 and miR-1225-5p in breast cancer, where its modulation affects cell growth and motility 4. The gene's pseudoautosomal location is clinically relevant in sex chromosome X|Y; haploinsufficiency or aberrations in PLCXD1-containing regions contribute to spermatogenic failure and infertility phenotypes 5. Additionally, PLCXD1 demonstrates altered expression in ischemic stroke, implicating it in angiogenesis and potentially explaining sex differences in stroke pathology 6. As a tumor-suppressor candidate, PLCXD1 exhibits methylation and deletion in melanoma, with growth-suppressive properties 7.

Sources cited
1
PLCXD1 expression is elevated in ME, encoding PI-PLC that cleaves membrane-bound SMPDL3B; shows hormonal regulation by estrogen
PMID: 40624584
2
PLCXD1 identified as core gene in sepsis endothelial dysfunction with strong baicalein binding affinity and diagnostic potential
PMID: 41783153
3
PLCXD1 is located on pseudoautosomal regions of X/Y chromosomes; X-specific in ruminants but terminal PAR gene in humans/horses
PMID: 20016163
4
PLCXD1 identified as putative tumor-suppressor gene in melanoma with methylation, deletion, and growth-suppressive properties
PMID: 21606880
5
PLCXD1 is Y chromosome pseudoautosomal gene differentially expressed in male ischemic stroke patients, associated with angiogenesis
PMID: 22365286
6
PLCXD1 pseudoautosomal region aberrations contribute to spermatogenic failure and infertility in Y chromosome rearrangements
PMID: 24698150
7
PLCXD1 is a novel target of miR-575 and miR-1225-5p regulating breast cancer cell growth and motility
PMID: 25961594
Disease Associationsⓘ20
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
Meckel syndrome, type 1Open Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
uterine leiomyosarcomaOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
sessile serrated polypOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Leri-Weill dyschondrosteosisOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
human granulocytic anaplasmosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF202Shared pathway100%FAM135BShared pathway100%PLCXD3Shared pathway100%PLCXD2Shared pathway100%GDPD4Shared pathway100%LIPJShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
33%
Ovary
31%
Lung
19%
Brain
11%
Heart
5%
Gene Interaction Network
Click a node to explore
PLCXD1ZNF202FAM135BPLCXD3PLCXD2GDPD4LIPJ
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NUJ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.53LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.19 [0.94–1.53]
RankingsWhere PLCXD1 stands among ~20K protein-coding genes
  • #14,495of 20,598
    Most Researched19
  • #15,313of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedPLCXD1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
SMPDL3B a novel biomarker and therapeutic target in myalgic encephalomyelitis.
PMID: 40624584
J Transl Med · 2025
1.00
2
Bioinformatic Analysis and Experimental Verification Reveal the Protective Role of Baicalein Against LPS-Induced Endothelial Cell Dysfunction.
PMID: 41783153
J Inflamm Res · 2026
0.86
3
Characterization of the bovine pseudoautosomal region and comparison with sheep, goat, and other mammalian pseudoautosomal regions.
PMID: 20016163
Cytogenet Genome Res · 2009
0.71
4
Use of integrative epigenetic and cytogenetic analyses to identify novel tumor-suppressor genes in malignant melanoma.
PMID: 21606880
Melanoma Res · 2011
0.57
5
Y chromosome gene expression in the blood of male patients with ischemic stroke compared with male controls.
PMID: 22365286
Gend Med · 2012
0.43