PLCXD2: Phosphatidylinositol-Specific Phospholipase C, X Domain Containing 2
A comprehensive genomic and proteomic overview of PLCXD2, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | PLCXD2 |
|---|---|
| Full Name | Phosphatidylinositol-Specific Phospholipase C, X Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 84868 ncbi.nlm.nih.gov/gene/84868 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q9H2A3 |
| OMIM ID | 614268 |
| HGNC ID | 26211 |
| Aliases | FLJ22662, MGC138290, MGC138291 |
Description
PLCXD2 encodes a protein containing an X domain characteristic of phosphatidylinositol-specific phospholipase C enzymes. It is involved in phosphoinositide metabolism and intracellular signaling. The gene is located on chromosome 3q13.2 and is expressed in various tissues, with highest levels in the brain and testis. Mutations and altered expression have been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and behavioral abnormalities | Disruption of PLCXD2 function may impair phosphoinositide signaling critical for neuronal development | ClinVar: pathogenic variants reported in individuals with developmental delay and speech impairment |
| Autism spectrum disorder | Rare variants in PLCXD2 identified in ASD cohorts, suggesting a role in synaptic signaling | OMIM: 614268; literature association |
| Glioblastoma | Overexpression of PLCXD2 in glioma tissues correlates with poor prognosis, potentially via PI3K/AKT pathway activation | COSMIC: mutations and copy number alterations in glioblastoma samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 4.8 | Low |
| Liver | 2.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 15.3 | Neuroblastoma cell line; high expression |
| U87MG | 11.7 | Glioblastoma cell line; elevated expression |
| HepG2 | 2.0 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | <0.01% | Likely pathogenic; associated with neurodevelopmental disorder |
| c.1576G>A (p.Glu526Lys) | Missense | 0.02% | Uncertain significance; reported in autism spectrum disorder |
| c.1234_1235insA (p.Thr412Asnfs*3) | Frameshift | <0.01% | Loss-of-function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr412Asnfs*3) lead to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PLCXD2.
Dominant Negative (DN)
Missense variants (e.g., p.Arg348Trp) may interfere with wild-type protein function in heterozygotes, though dominant-negative effect is not established.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol phospholipase C activity | • calcium ion binding |
| • phospholipase C activity | • intracellular signal transduction |
| • phosphatidylinositol metabolic process | • plasma membrane |
Pathways
• Phosphatidylinositol signaling system
• Calcium signaling pathway
• PI3K-Akt signaling pathway (indirect)
Protein Summary
PLCXD2 is a 548-amino acid protein containing a phosphatidylinositol-specific phospholipase C X domain. It catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), second messengers that regulate calcium release and protein kinase C activation. The protein is localized to the plasma membrane and is highly expressed in neural tissues. Structural studies suggest a conserved catalytic mechanism shared with other PLC family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCXD2 Knockout HEK293 Cell Line | EDJ-KQ996 | Human | 257068 | Details Get a Quote |
| PLCXD2 Knockout A-549 Cell Line | EDJ-KQ20031 | Human | 257068 | Details Get a Quote |
| PLCXD2 Knockout HCT 116 Cell Line | EDJ-KQ20032 | Human | 257068 | Details Get a Quote |
| PLCXD2 Knockout HeLa Cell Line | EDJ-KQ20033 | Human | 257068 | Details Get a Quote |
