GDA (Guanine Deaminase)
A key enzyme in guanine nucleotide metabolism with roles in neurodevelopment and cancer
Gene Information Card
| Symbol | GDA |
|---|---|
| Full Name | Guanine Deaminase |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q21.13 |
| NCBI Gene ID | 9615 ncbi.nlm.nih.gov/gene/9615 |
| Ensembl ID | ENSG00000119125 |
| UniProt ID | Q9Y2T3 |
| OMIM ID | 139260 |
| HGNC ID | 4212 |
| Aliases | Cypin, GUAD |
Description
The GDA gene encodes guanine deaminase (also known as cypin), a cytosolic enzyme that catalyzes the hydrolytic deamination of guanine to xanthine and ammonia. This reaction is a key step in the purine salvage pathway. Beyond its metabolic function, GDA plays a critical role in neuronal development by regulating dendrite branching and synaptic plasticity through interaction with PSD-95. Dysregulation of GDA expression and activity has been implicated in neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders (e.g., intellectual disability, autism spectrum disorder) | Altered dendrite arborization due to dysregulated GDA expression affecting PSD-95 clustering | PMID: 19036943 |
| Breast cancer | Overexpression of GDA promotes cell proliferation and migration; associated with poor prognosis | PMID: 29367642 |
| Colorectal cancer | GDA upregulation correlates with tumor progression and metastasis | PMID: 31019238 |
| Hepatocellular carcinoma | GDA overexpression linked to increased invasion and EMT | PMID: 32697944 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Testis | 4.7 | Low |
| Lung | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal differentiation studies |
| MCF7 (breast cancer) | 9.8 | Moderate expression; associated with proliferation |
| HepG2 (hepatocellular carcinoma) | 7.4 | Moderate expression; linked to EMT |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced enzyme activity; associated with neurodevelopmental phenotypes |
| c.682G>A (p.Glu228Lys) | Missense | 0.01% | Altered substrate binding; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce guanine deaminase activity (e.g., start codon loss, catalytic site variants) are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GDA.
Dominant Negative (DN)
No evidence for dominant-negative effects; GDA functions as a homotetramer, but dominant-negative variants have not been described.
View complete mutation data：
Gene Ontology (GO)
| • guanine deaminase activity (GO:0000252) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • purine nucleobase metabolic process (GO:0006144) |
| • nervous system development (GO:0007399) | • hydrolase activity (GO:0016787) |
| • myelin sheath (GO:0043209) | • dendrite morphogenesis (GO:0048812) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Guanine deaminase (GDA) is a 454-amino-acid homotetrameric enzyme that catalyzes the deamination of guanine to xanthine. It contains a zinc-binding domain essential for catalytic activity. In neurons, GDA (cypin) interacts with PSD-95 to regulate dendrite branching and synaptic clustering. The protein is predominantly expressed in brain and liver, with lower levels in kidney and testis. Post-translational modifications include phosphorylation at Ser-202, which modulates its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDA Knockout HEK293 Cell Line | EDJ-KQ2357 | Human | 9615 | Details Get a Quote |
| GDAP1 Knockout HEK293 Cell Line | EDJ-KQ11401 | Human | 54332 | Details Get a Quote |
| GDAP1L1 Knockout HEK293 Cell Line | EDJ-KQ12831 | Human | 78997 | Details Get a Quote |
| GDAP2 Knockout HEK293 Cell Line | EDJ-KQ13578 | Human | 54834 | Details Get a Quote |
| GDA Knockout A-549 Cell Line | EDJ-KQ22793 | Human | 9615 | Details Get a Quote |
| GDA Knockout HCT 116 Cell Line | EDJ-KQ22794 | Human | 9615 | Details Get a Quote |
| GDA Knockout HeLa Cell Line | EDJ-KQ22795 | Human | 9615 | Details Get a Quote |
| GDAP1 Knockout A-549 Cell Line | EDJ-KQ39611 | Human | 54332 | Details Get a Quote |
| GDAP1 Knockout HCT 116 Cell Line | EDJ-KQ39612 | Human | 54332 | Details Get a Quote |
| GDAP1 Knockout HeLa Cell Line | EDJ-KQ39613 | Human | 54332 | Details Get a Quote |
| GDAP2 Knockout A-549 Cell Line | EDJ-KQ43232 | Human | 54834 | Details Get a Quote |
| GDAP2 Knockout HCT 116 Cell Line | EDJ-KQ43233 | Human | 54834 | Details Get a Quote |
| GDAP2 Knockout HeLa Cell Line | EDJ-KQ43234 | Human | 54834 | Details Get a Quote |
| GDAP1L1 Knockout HeLa Cell Line | EDJ-KQ57124 | Human | 78997 | Details Get a Quote |
| GDAP1L1 Knockout A-549 Cell Line | EDJ-KQ65637 | Human | 78997 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
