GDA
gene geneOn this page
Also known as CYPINGAH
Summary
GDA (guanine deaminase, HGNC:4212) is a protein-coding gene on chromosome 9q21.13, encoding Guanine deaminase (Q9Y2T3). Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.
This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 9615 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 62 total
- Druggable target: yes — 3 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_004293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4212 |
| Approved symbol | GDA |
| Name | guanine deaminase |
| Location | 9q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CYPIN, GAH |
| Ensembl gene | ENSG00000119125 |
| Ensembl biotype | protein_coding |
| OMIM | 139260 |
| Entrez | 9615 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000238018, ENST00000358399, ENST00000376986, ENST00000414671, ENST00000436438, ENST00000475764, ENST00000477618, ENST00000489618, ENST00000545168, ENST00000897996, ENST00000897997
RefSeq mRNA: 7 — MANE Select: NM_004293
NM_001242505, NM_001242506, NM_001242507, NM_001351571, NM_001351572, NM_001351573, NM_004293
CCDS: CCDS56576, CCDS56577, CCDS6641
Canonical transcript exons
ENST00000358399 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001624681 | 72247406 | 72247433 |
| ENSE00001646828 | 72248272 | 72252224 |
| ENSE00001749359 | 72227943 | 72228040 |
| ENSE00001760403 | 72241152 | 72241298 |
| ENSE00001767251 | 72245148 | 72245278 |
| ENSE00001951441 | 72149440 | 72149682 |
| ENSE00003501233 | 72213886 | 72213991 |
| ENSE00003505039 | 72202571 | 72202742 |
| ENSE00003529839 | 72225677 | 72225784 |
| ENSE00003591993 | 72195500 | 72195588 |
| ENSE00003593023 | 72219479 | 72219506 |
| ENSE00003605378 | 72210687 | 72210774 |
| ENSE00003625305 | 72223120 | 72223227 |
| ENSE00003791573 | 72231114 | 72231181 |
Expression profiles
Bgee: expression breadth ubiquitous, 185 present calls, max score 99.56.
FANTOM5 (CAGE): breadth broad, TPM avg 6.8821 / max 356.3875, expressed in 295 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 96908 | 5.3328 | 254 |
| 96909 | 0.4858 | 127 |
| 96905 | 0.3844 | 111 |
| 96910 | 0.3113 | 91 |
| 96906 | 0.0930 | 53 |
| 96916 | 0.0795 | 43 |
| 96904 | 0.0521 | 24 |
| 96915 | 0.0513 | 24 |
| 96902 | 0.0500 | 24 |
| 96917 | 0.0217 | 9 |
Top tissues by expression
231 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.56 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.55 | gold quality |
| pancreatic ductal cell | CL:0002079 | 99.41 | gold quality |
| endothelial cell | CL:0000115 | 98.60 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.42 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.88 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.84 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.44 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.33 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.82 | gold quality |
| parietal lobe | UBERON:0001872 | 95.73 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.64 | gold quality |
| duodenum | UBERON:0002114 | 95.40 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.70 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.26 | gold quality |
| temporal lobe | UBERON:0001871 | 94.17 | gold quality |
| oviduct epithelium | UBERON:0004804 | 93.80 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.60 | gold quality |
| frontal cortex | UBERON:0001870 | 93.53 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.06 | gold quality |
| neocortex | UBERON:0001950 | 92.52 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.43 | gold quality |
| amygdala | UBERON:0001876 | 92.20 | gold quality |
| liver | UBERON:0002107 | 91.86 | gold quality |
| Ammon’s horn | UBERON:0001954 | 91.51 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.26 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.13 | gold quality |
| occipital lobe | UBERON:0002021 | 90.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting GDA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-154-3P | 99.50 | 70.05 | 831 |
| HSA-MIR-487A-3P | 99.50 | 69.95 | 840 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-3940-5P | 99.14 | 65.26 | 493 |
| HSA-MIR-4507 | 99.14 | 65.27 | 515 |
| HSA-MIR-4687-5P | 99.14 | 66.26 | 488 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-7850-5P | 98.12 | 67.28 | 1111 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-3184-3P | 96.96 | 66.91 | 845 |
| HSA-MIR-617 | 96.79 | 65.96 | 738 |
Literature-anchored findings (GeneRIF, showing 6)
- the experiments on guanase and nedasin in rat organs performed in this study are considered to have important implications in the investigation of their physiological significance (PMID:16953061)
- since the histochemical staining of guanase and immunohistochemical staining of nedasin overlapped in many regions, guanase is presumed to be involved in signal transduction in organs similar to nedasin (PMID:16953063)
- This protein has been found differentially expressed in thalami from patients with schizophrenia. (PMID:20471030)
- Guanine Deaminase Stimulates Ultraviolet-induced Keratinocyte Senescence in Seborrhoeic Keratosis via Guanine Metabolites. (PMID:32215662)
- Guanine Deaminase in Human Epidermal Keratinocytes Contributes to Skin Pigmentation. (PMID:32517074)
- Long Non-Coding RNA-GDA-1 Promotes Keratinocyte Proliferation and Psoriasis Inflammation by Regulating the STAT3/NF-kappaB Signaling Pathway via Forkhead Box M1. (PMID:36943641)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gda | ENSDARG00000002986 |
| mus_musculus | Gda | ENSMUSG00000058624 |
| rattus_norvegicus | Gda | ENSRNOG00000018282 |
| drosophila_melanogaster | DhpD | FBGN0261436 |
| caenorhabditis_elegans | WBGENE00000775 |
Protein
Protein identifiers
Guanine deaminase — Q9Y2T3 (reviewed: Q9Y2T3)
Alternative names: Guanine aminohydrolase, p51-nedasin
All UniProt accessions (5): Q9Y2T3, H0YDZ7, Q5SZC3, Q5SZC5, Q5SZC6
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.
Subunit / interactions. Homodimer.
Cofactor. Binds 1 zinc ion per subunit.
Pathway. Purine metabolism; guanine degradation; xanthine from guanine: step 1/1.
Similarity. Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2T3-1 | 1 | yes |
| Q9Y2T3-2 | 2, c | |
| Q9Y2T3-3 | 3, a |
RefSeq proteins (7): NP_001229434, NP_001229435, NP_001229436, NP_001338500, NP_001338501, NP_001338502, NP_004284* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006680 | Amidohydro-rel | Domain |
| IPR011059 | Metal-dep_hydrolase_composite | Homologous_superfamily |
| IPR014311 | Guanine_deaminase | Family |
| IPR032466 | Metal_Hydrolase | Homologous_superfamily |
| IPR051607 | Metallo-dep_hydrolases | Family |
Pfam: PF01979
Enzyme classification (BRENDA):
- EC 3.5.4.3 — guanine deaminase (BRENDA: 28 organisms, 77 substrates, 84 inhibitors, 97 Km, 19 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GUANINE | 0.0026–1.89 | 79 |
| 8-AZAGUANINE | 0.0083–1 | 8 |
| AMMELINE | 1.2–2.6 | 2 |
| 1-METHYLGUANINE | 0.93 | 1 |
| 5-AMINO-5,6-DIHYDRO[1,2]THIAZOLO[4,3-D]PYRIMIDIN | 0.008 | 1 |
| 6-THIOGUANINE | 0.8 | 1 |
| 7,8-DIHYDROPTERIN | 1.621 | 1 |
| VALACYCLOVIR | 54.6 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- guanine + H2O + H(+) = xanthine + NH4(+) (RHEA:14665)
UniProt features (61 total): strand 22, helix 22, binding site 8, turn 4, splice variant 2, chain 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4AQL | X-RAY DIFFRACTION | 1.99 |
| 2UZ9 | X-RAY DIFFRACTION | 2.3 |
| 3E0L | X-RAY DIFFRACTION | 2.37 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2T3-F1 | 97.15 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 82; 84–87; 84; 213–214; 240–243; 240; 330; 330
Post-translational modifications (1): 453
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-74259 | Purine catabolism |
MSigDB gene sets: 169 (showing top):
GAANYNYGACNY_UNKNOWN, TGCACTT_MIR519C_MIR519B_MIR519A, MODULE_418, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODRIGUES_NTN1_TARGETS_DN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_NUCLEOBASE_METABOLIC_PROCESS, GTGTTGA_MIR505, COATES_MACROPHAGE_M1_VS_M2_UP, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS
GO Biological Process (9): allantoin metabolic process (GO:0000255), nucleobase-containing compound metabolic process (GO:0006139), guanine catabolic process (GO:0006147), deoxyguanosine catabolic process (GO:0006161), nervous system development (GO:0007399), obsolete amide catabolic process (GO:0043605), GMP catabolic process (GO:0046038), dGMP catabolic process (GO:0046055), guanine metabolic process (GO:0046098)
GO Molecular Function (5): zinc ion binding (GO:0008270), guanine deaminase activity (GO:0008892), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810), metal ion binding (GO:0046872)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nucleotide catabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| primary metabolic process | 1 |
| purine nucleobase catabolic process | 1 |
| guanine metabolic process | 1 |
| 2’-deoxyribonucleoside catabolic process | 1 |
| purine deoxyribonucleoside catabolic process | 1 |
| system development | 1 |
| purine ribonucleotide catabolic process | 1 |
| purine ribonucleoside monophosphate catabolic process | 1 |
| GMP metabolic process | 1 |
| purine deoxyribonucleotide catabolic process | 1 |
| purine deoxyribonucleoside monophosphate catabolic process | 1 |
| dGMP metabolic process | 1 |
| purine nucleobase metabolic process | 1 |
| transition metal ion binding | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines | 1 |
| deaminase activity | 1 |
| catalytic activity | 1 |
| hydrolase activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1298 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GDA | DLG4 | P78352 | 917 |
| GDA | DLG3 | Q92796 | 854 |
| GDA | PNP | P00491 | 789 |
| GDA | APRT | P07741 | 717 |
| GDA | CRMP1 | Q14194 | 714 |
| GDA | ADA | P00813 | 710 |
| GDA | STIP1 | P31948 | 707 |
| GDA | DLG1 | Q12959 | 697 |
| GDA | DPYSL2 | Q16555 | 678 |
| GDA | GMPS | P49915 | 665 |
| GDA | XDH | P47989 | 627 |
| GDA | SNAPIN | O95295 | 621 |
| GDA | ADSL | P30566 | 617 |
| GDA | IMPDH2 | P12268 | 614 |
| GDA | YBX1 | P16990 | 612 |
IntAct
140 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDA | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.740 |
| GDA | DLG3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DLG3 | GDA | psi-mi:“MI:0915”(physical association) | 0.740 |
| DLG3 | GDA | psi-mi:“MI:0403”(colocalization) | 0.740 |
| TEPSIN | AP4M1 | psi-mi:“MI:0914”(association) | 0.700 |
| MATN3 | TF | psi-mi:“MI:0914”(association) | 0.530 |
| SPMIP4 | PGK2 | psi-mi:“MI:0914”(association) | 0.530 |
| HERC3 | H3-7 | psi-mi:“MI:0914”(association) | 0.530 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| STPG2 | TF | psi-mi:“MI:0914”(association) | 0.530 |
| SH2D4A | TF | psi-mi:“MI:0914”(association) | 0.530 |
| ESR1 | PGK2 | psi-mi:“MI:0914”(association) | 0.530 |
| DTX3 | ITSN1 | psi-mi:“MI:0914”(association) | 0.530 |
| GDA | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST2 | GDA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | TAX1BP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GDA | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (68): ABAT (Co-fractionation), AMDHD1 (Co-fractionation), AP1G1 (Co-fractionation), ATRIP (Co-fractionation), FAHD1 (Co-fractionation), GDA (Co-fractionation), GDA (Co-fractionation), LARS (Co-fractionation), LCMT2 (Co-fractionation), NPEPL1 (Co-fractionation), TIPRL (Co-fractionation), UBA1 (Co-fractionation), GDA (Affinity Capture-MS), GDA (Affinity Capture-MS), GDA (Affinity Capture-MS)
ESM2 similar proteins: A0A1I9LN01, A0A1U9YI27, B8LWT1, C4JQN7, C5FK77, C5PCN6, C7ZIE1, D4B2N2, D4DEJ7, E5R2Q7, E9CV02, F4J6T7, M1VV65, O04373, O14057, O14124, O48540, O59666, O59832, O64749, O74916, O81641, O94266, O94323, P31428, P31430, P34480, P54969, P54970, Q2UPB0, Q2VQV9, Q3SY69, Q43092, Q4LB35, Q4WVZ3, Q54NU9, Q5RAV9, Q6Q886, Q8GW72, Q8H0B2
Diamond homologs: A0B7V2, A0LMI3, A0RCM7, A1VD37, A3DEQ2, A4FW32, A4J675, A4XJI3, A5D1G6, A5UMN6, A6UQD4, A6UUG9, A6VH76, A7GNR9, A7I6C5, A9A9H3, B0K2W0, B0K8R8, B1I2P4, B5YDN9, B5YLB7, B6YUF8, B7HIQ2, B7HMN9, B7IS56, B7JJI0, B8CX03, B8DKS6, B8E183, B8FRL9, B8J2Q8, C1EPN0, C3L6N3, C3P768, C5BSJ0, C6A048, O27549, O29265, O29701, O31352
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CREB1 | “up-regulates quantity by expression” | GDA | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Dopamine Neurotransmitter Release Cycle | 5 | 34.5× | 2e-05 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 31.7× | 2e-09 |
| Neurexins and neuroligins | 8 | 21.9× | 4e-07 |
| Protein-protein interactions at synapses | 5 | 18.4× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 9 | 52.8× | 4e-11 |
| receptor clustering | 6 | 37.8× | 2e-06 |
| cell-cell adhesion | 9 | 9.2× | 8e-05 |
| protein-containing complex assembly | 8 | 9.2× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3000 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:72210706:G:A | G135E | 0.998 |
| 9:72245201:G:C | A397P | 0.998 |
| 9:72248281:G:C | R435P | 0.998 |
| 9:72202596:G:C | D80H | 0.997 |
| 9:72202608:C:G | H84D | 0.997 |
| 9:72202741:T:A | V128D | 0.997 |
| 9:72225677:A:C | S239R | 0.997 |
| 9:72225679:C:A | S239R | 0.997 |
| 9:72225679:C:G | S239R | 0.997 |
| 9:72228023:T:G | C301W | 0.997 |
| 9:72241152:A:T | D330V | 0.997 |
| 9:72202662:T:A | W102R | 0.996 |
| 9:72202662:T:C | W102R | 0.996 |
| 9:72210706:G:T | G135V | 0.995 |
| 9:72213901:G:C | R163P | 0.995 |
| 9:72245202:C:A | A397D | 0.995 |
| 9:72202597:A:T | D80V | 0.994 |
| 9:72202612:C:A | A85D | 0.994 |
| 9:72210697:T:C | L132P | 0.994 |
| 9:72223153:T:C | F214L | 0.994 |
| 9:72223155:T:A | F214L | 0.994 |
| 9:72223155:T:G | F214L | 0.994 |
| 9:72228021:T:C | C301R | 0.994 |
| 9:72241153:C:A | D330E | 0.994 |
| 9:72241153:C:G | D330E | 0.994 |
| 9:72247433:G:A | G432R | 0.994 |
| 9:72247433:G:C | G432R | 0.994 |
| 9:72248285:T:A | N436K | 0.994 |
| 9:72248285:T:G | N436K | 0.994 |
| 9:72149602:G:T | G15W | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000005537 (9:72237072 G>A,T), RS1000054402 (9:72234657 A>C,G), RS1000083680 (9:72234291 G>A), RS1000086604 (9:72175476 C>A,T), RS1000099774 (9:72236698 C>T), RS1000101191 (9:72221581 G>C,T), RS1000107390 (9:72244465 TAGA>T), RS1000189168 (9:72231206 A>G), RS1000190771 (9:72197157 C>A), RS1000246651 (9:72140362 G>A,C), RS1000273939 (9:72186956 C>T), RS1000298035 (9:72121317 G>A,T), RS1000303987 (9:72227622 T>A), RS1000310161 (9:72165221 C>T), RS1000356511 (9:72155911 A>G)
Disease associations
OMIM: gene MIM:139260 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3129 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 313,545 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL113 | CAFFEINE | 4 | 200,591 |
| CHEMBL321248 | 7-METHYLXANTHINE | 2 | 784 |
| CHEMBL792 | URIC ACID | 2 | 112,170 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
8 potent at pChembl≥5 of 13 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.73 | Ki | 1880 | nM | 2,6-DIAMINOPURINE |
| 5.71 | Ki | 1960 | nM | XANTHINE |
| 5.46 | Ki | 3440 | nM | CHEMBL1224659 |
| 5.36 | Ki | 4340 | nM | URIC ACID |
| 5.35 | Ki | 4440 | nM | CHEMBL1610 |
| 5.30 | IC50 | 5000 | nM | AZEPINOMYCIN |
| 5.26 | Ki | 5550 | nM | 7-METHYLXANTHINE |
| 5.00 | Ki | 1e+04 | nM | CAFFEINE |
PubChem BioAssay actives
8 with measured affinity, of 19 total; 8 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 7H-purine-2,6-diamine | 502390: Inhibition of GDA by colorimetric assay | ki | 1.8800 | uM |
| 3,7-dihydropurine-2,6-dione | 502390: Inhibition of GDA by colorimetric assay | ki | 1.9600 | uM |
| N-(6-oxo-1,7-dihydropurin-2-yl)acetamide | 502390: Inhibition of GDA by colorimetric assay | ki | 3.4400 | uM |
| Uric Acid | 502390: Inhibition of GDA by colorimetric assay | ki | 4.3400 | uM |
| 4-amino-1H-imidazole-5-carboxamide | 502390: Inhibition of GDA by colorimetric assay | ki | 4.4400 | uM |
| 6-hydroxy-4,5,6,7-tetrahydro-1H-imidazo[4,5-e][1,4]diazepin-8-one | 717436: Inhibition of guanase | ic50 | 5.0000 | uM |
| 7-methyl-3H-purine-2,6-dione | 502390: Inhibition of GDA by colorimetric assay | ki | 5.5500 | uM |
| Caffeine | 1920736: Inhibition of guanine deaminase (unknown origin) | ki | 10.0000 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 4 |
| Tetrachlorodibenzodioxin | decreases reaction, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Arsenic Trioxide | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| bisphenol A | decreases methylation, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| cupric chloride | increases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| brequinar | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benztropine | affects cotreatment, increases expression | 1 |
| Cuprizone | affects cotreatment, increases expression, decreases expression | 1 |
| Haloperidol | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
ChEMBL screening assays
10 unique, capped per target: 10 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1225626 | Binding | Activation of GDA by colorimetric assay | Identification of small molecule compounds with higher binding affinity to guanine deaminase (cypin) than guanine. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1SR | Abcam HeLa GDA KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.