GDPD2 Gene (Glycerophosphodiester Phosphodiesterase Domain Containing 2)
A comprehensive resource on GDPD2: genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | GDPD2 |
|---|---|
| Full Name | Glycerophosphodiester Phosphodiesterase Domain Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000147119 |
| UniProt ID | Q9HCC8 |
| OMIM ID | 300601 |
| HGNC ID | 28823 |
| Aliases | GDE3, MGC138207 |
Description
GDPD2 (Glycerophosphodiester Phosphodiesterase Domain Containing 2) is a protein-coding gene located on the X chromosome. It encodes a member of the glycerophosphodiester phosphodiesterase family, which is involved in the hydrolysis of glycerophosphodiesters to produce glycerol-3-phosphate and an alcohol. GDPD2 is also known as GDE3 and is implicated in cellular signaling and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft | Potential role in craniofacial development; altered expression may contribute to cleft palate | Limited evidence from association studies (ClinVar) |
| Intellectual disability | X-linked candidate; rare variants reported in neurodevelopmental cohorts | Case reports (ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 5.2 | Very low expression |
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 functional impact |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in COSMIC or ClinVar.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • glycerophosphodiester phosphodiesterase activity | • hydrolase activity |
| • membrane | • extracellular region |
Pathways
• Glycerophospholipid metabolism
Protein Summary
The GDPD2 protein (UniProt Q9HCC8) is a 372-amino acid membrane-associated enzyme that catalyzes the cleavage of glycerophosphodiesters. It is predicted to contain a signal peptide and a transmembrane domain, suggesting localization to the plasma membrane or extracellular space. Its function in lipid signaling and metabolism is under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDPD2 Knockout HEK293 Cell Line | EDJ-KQ13580 | Human | 54857 | Details Get a Quote |
| GDPD2 Knockout IPEC-J2 Cell Line | EDJ-KZ26 | Pig | 100516309 | Details Get a Quote |
| GDPD2 Knockout HeLa Cell Line | EDJ-KQ56490 | Human | 54857 | Details Get a Quote |
| GDPD2 Knockout A-549 Cell Line | EDJ-KQ64980 | Human | 54857 | Details Get a Quote |
| GDPD2 Knockout HCT 116 Cell Line | EDJ-KQ73425 | Human | 54857 | Details Get a Quote |
