GDPD5 Gene - Glycerophosphodiester Phosphodiesterase Domain Containing 5
Gene encoding a glycerophosphodiester phosphodiesterase involved in choline metabolism and cell signaling
Gene Information Card
| Symbol | GDPD5 |
|---|---|
| Full Name | Glycerophosphodiester Phosphodiesterase Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 81544 ncbi.nlm.nih.gov/gene/81544 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q8WTR4 |
| OMIM ID | 611359 |
| HGNC ID | 28823 |
| Aliases | GDE2, PP1665, FLJ11273 |
Description
GDPD5 (glycerophosphodiester phosphodiesterase domain containing 5) encodes a member of the glycerophosphodiester phosphodiesterase family. The protein catalyzes the hydrolysis of glycerophosphodiesters to sn-glycerol-3-phosphate and an alcohol, playing a role in choline metabolism and phospholipid homeostasis. GDPD5 is also implicated in cell signaling, neurodevelopment, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | GDPD5 expression is associated with differentiation and prognosis; loss of function may promote tumorigenesis | PMID: 23431136 |
| Breast cancer | Overexpression linked to poor prognosis; involved in choline metabolism and cell proliferation | PMID: 25691885 |
| Prostate cancer | Altered expression correlates with metastatic potential | PMID: 27107051 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Low |
| Prostate | 6.7 | Low |
| Testis | 15.2 | Medium |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | High expression; used in differentiation studies |
| MCF7 (breast cancer) | 11.2 | Moderate expression |
| PC3 (prostate cancer) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown significance; reported in COSMIC |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss-of-function variants may impair glycerophosphodiesterase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Choline metabolism in cancer (KEGG: hsa05231)
Protein Summary
GDPD5 encodes a 607-amino acid protein with a glycerophosphodiester phosphodiesterase domain. It is localized to the plasma membrane and functions as a hydrolase that cleaves glycerophosphodiesters, contributing to choline and phospholipid homeostasis. The protein is involved in cell differentiation, particularly in neuronal cells, and its dysregulation is associated with several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDPD5 Knockout HEK293 Cell Line | EDJ-KQ9705 | Human | 81544 | Details Get a Quote |
| GDPD5 Knockout HCT 116 Cell Line | EDJ-KQ35261 | Human | 81544 | Details Get a Quote |
| GDPD5 Knockout A-549 Cell Line | EDJ-KQ36482 | Human | 81544 | Details Get a Quote |
| GDPD5 Knockout HeLa Cell Line | EDJ-KQ36484 | Human | 81544 | Details Get a Quote |
