GDPD4 Gene - Glycerophosphodiester Phosphodiesterase Domain Containing 4
Comprehensive genomic and functional analysis of GDPD4, a glycerophosphodiester phosphodiesterase implicated in lipid metabolism and cancer.
Gene Information Card
| Symbol | GDPD4 |
|---|---|
| Full Name | Glycerophosphodiester Phosphodiesterase Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 220082 ncbi.nlm.nih.gov/gene/220082 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q8N3F8 |
| OMIM ID | 615752 |
| HGNC ID | 28479 |
| Aliases | GDPD4, GDE4, MGC15619 |
Description
GDPD4 (glycerophosphodiester phosphodiesterase domain containing 4) encodes a member of the glycerophosphodiester phosphodiesterase family. The protein catalyzes the hydrolysis of glycerophosphodiesters to sn-glycerol-3-phosphate and corresponding alcohols, playing a role in phospholipid metabolism. GDPD4 is implicated in cellular signaling and has been studied in the context of cancer, where altered expression may influence tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered GDPD4 expression may affect phospholipid metabolism and signaling pathways involved in cell proliferation and survival. | COSMIC mutation data; literature on expression changes in various cancers. |
| Prostate cancer | GDPD4 expression is reported to be downregulated in prostate cancer tissues, potentially contributing to tumorigenesis. | PubMed studies; expression profiling data. |
| Breast cancer | GDPD4 mutations and expression changes have been observed in breast cancer samples. | COSMIC; ClinVar; literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Breast | 4.1 | Low |
| Colon | 6.0 | Medium |
| Kidney | 7.5 | Medium |
| Liver | 2.9 | Low |
| Lung | 4.5 | Low |
| Prostate | 8.3 | Medium |
| Skin | 3.0 | Low |
| Testis | 12.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.8 | Embryonic kidney cells |
| HeLa | 3.2 | Cervical cancer cells |
| MCF7 | 5.5 | Breast cancer cells |
| PC3 | 6.1 | Prostate cancer cells |
| A549 | 4.0 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; predicted damaging by PolyPhen |
| c.412_413insA | Frameshift | <0.01% | Likely loss of function |
| c.589C>T (p.Arg197*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg197*, c.412_413insA) are predicted to result in truncated or non-functional protein, leading to loss of enzymatic activity.
Gain of Function (GOF)
No documented gain-of-function mutations for GDPD4.
Dominant Negative (DN)
No evidence of dominant-negative effects for GDPD4 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid catabolism (KEGG: map00564)
Protein Summary
GDPD4 encodes a 340-amino acid protein with a glycerophosphodiester phosphodiesterase domain. The protein is localized to the plasma membrane and catalyzes the cleavage of glycerophosphodiesters, contributing to phospholipid homeostasis. It is expressed in multiple tissues, with highest levels in testis. Structural analysis reveals a conserved catalytic site essential for enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDPD4 Knockout HEK293 Cell Line | EDJ-KQ7812 | Human | 220032 | Details Get a Quote |
| GDPD4 Knockout HeLa Cell Line | EDJ-KQ59131 | Human | 220032 | Details Get a Quote |
| GDPD4 Knockout A-549 Cell Line | EDJ-KQ67605 | Human | 220032 | Details Get a Quote |
| GDPD4 Knockout HCT 116 Cell Line | EDJ-KQ75993 | Human | 220032 | Details Get a Quote |
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