GBP3
gene geneOn this page
Also known as FLJ10961
Summary
GBP3 (guanylate binding protein 3, HGNC:4184) is a protein-coding gene on chromosome 1p22.2, encoding Guanylate-binding protein 3 (Q9H0R5). Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens.
This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 2635 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_018284
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4184 |
| Approved symbol | GBP3 |
| Name | guanylate binding protein 3 |
| Location | 1p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10961 |
| Ensembl gene | ENSG00000117226 |
| Ensembl biotype | protein_coding |
| OMIM | 600413 |
| Entrez | 2635 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000235878, ENST00000370481, ENST00000370482, ENST00000445969, ENST00000461384, ENST00000475853, ENST00000489444, ENST00000493594, ENST00000564037, ENST00000564665, ENST00000568006, ENST00000850557, ENST00000879050, ENST00000879051, ENST00000955700, ENST00000955701
RefSeq mRNA: 4 — MANE Select: NM_018284
NM_001319179, NM_001319180, NM_001319181, NM_018284
CCDS: CCDS717
Canonical transcript exons
ENST00000370481 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001452833 | 89022684 | 89022866 |
| ENSE00002583738 | 89006680 | 89007852 |
| ENSE00003458347 | 89013185 | 89013427 |
| ENSE00003458558 | 89015287 | 89015414 |
| ENSE00003484376 | 89011747 | 89012027 |
| ENSE00003607022 | 89008947 | 89009140 |
| ENSE00003624427 | 89020532 | 89020743 |
| ENSE00003626849 | 89014547 | 89014656 |
| ENSE00003630886 | 89009392 | 89009494 |
| ENSE00003677074 | 89014083 | 89014279 |
| ENSE00003677590 | 89010904 | 89011116 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1526 / max 811.5466, expressed in 1317 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13136 | 5.2922 | 1224 |
| 13135 | 1.9515 | 664 |
| 13133 | 1.8011 | 200 |
| 13134 | 0.1078 | 51 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.25 | gold quality |
| ileum | UBERON:0002116 | 99.17 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 99.12 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.90 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.52 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.98 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.21 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.04 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.91 | gold quality |
| bronchus | UBERON:0002185 | 96.64 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.61 | gold quality |
| nasopharynx | UBERON:0001728 | 96.60 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.88 | gold quality |
| pericardium | UBERON:0002407 | 95.67 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.85 | gold quality |
| visceral pleura | UBERON:0002401 | 94.63 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.62 | gold quality |
| rectum | UBERON:0001052 | 94.00 | gold quality |
| urethra | UBERON:0000057 | 93.98 | gold quality |
| caput epididymis | UBERON:0004358 | 93.90 | gold quality |
| duodenum | UBERON:0002114 | 93.03 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.02 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.78 | gold quality |
| pylorus | UBERON:0001166 | 91.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.33 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 91.25 | gold quality |
| parietal pleura | UBERON:0002400 | 90.96 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.51 | gold quality |
| endometrium | UBERON:0001295 | 90.11 | gold quality |
| small intestine | UBERON:0002108 | 89.95 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-27 | yes | 6.10 |
| E-ANND-3 | yes | 6.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting GBP3, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
Literature-anchored findings (GeneRIF, showing 5)
- Data show that the novel splice variant of guanylate binding protein 3 hGBP-3, named hGBP-3DeltaC, showed the most prominent antiviral activity in epithelial cells. (PMID:22106366)
- GBP3 over-expression promotes glioma growth in mice and is inversely correlated with patients survival rate. (PMID:29128363)
- GBP3 promotes glioblastoma resistance to temozolomide by enhancing DNA damage repair. (PMID:35780181)
- The function of guanylate binding protein 3 (GBP3) in human cancers by pan-cancer bioinformatics. (PMID:37161254)
- Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP. (PMID:38301888)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | atl | FBGN0039213 |
Paralogs (10): GBP1 (ENSG00000117228), ATL2 (ENSG00000119787), RNF112 (ENSG00000128482), GBP5 (ENSG00000154451), GBP2 (ENSG00000162645), GBP4 (ENSG00000162654), GBP6 (ENSG00000183347), ATL3 (ENSG00000184743), ATL1 (ENSG00000198513), GBP7 (ENSG00000213512)
Protein
Protein identifiers
Guanylate-binding protein 3 — Q9H0R5 (reviewed: Q9H0R5)
Alternative names: GTP-binding protein 3, Guanine nucleotide-binding protein 3
All UniProt accessions (8): Q9H0R5, F6SPX6, F6X827, H3BNS1, H3BP53, H3BPH2, H3BRX6, Q5T8M0
UniProt curated annotations — full annotation on UniProt →
Function. Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Following infection, recruited to the pathogen-containing vacuoles or vacuole-escaped bacteria and acts as a positive regulator of inflammasome assembly by promoting the release of inflammasome ligands from bacteria. Acts by promoting lysis of pathogen-containing vacuoles, releasing pathogens into the cytosol. Following pathogen release in the cytosol, promotes recruitment of proteins that mediate bacterial cytolysis: this liberates ligands that are detected by inflammasomes, such as lipopolysaccharide (LPS) that activates the non-canonical CASP4/CASP11 inflammasome or double-stranded DNA (dsDNA) that activates the AIM2 inflammasome. Exhibits antiviral activity against influenza virus. Shows the most prominent antiviral activity in epithelial cells.
Subunit / interactions. Heterodimer with other family members, including GBP1, GBP2 and GBP5. Dimerization regulates subcellular location.
Subcellular location. Cytoplasm. Perinuclear region. Golgi apparatus membrane.
Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0R5-1 | 1 | yes |
| Q9H0R5-4 | 2, GBP-3DeltaC |
RefSeq proteins (4): NP_001306108, NP_001306109, NP_001306110, NP_060754* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003191 | Guanylate-bd/ATL_C | Domain |
| IPR015894 | Guanylate-bd_N | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030386 | G_GB1_RHD3_dom | Domain |
| IPR036543 | Guanylate-bd_C_sf | Homologous_superfamily |
| IPR037684 | GBP_C | Domain |
Pfam: PF02263, PF02841
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (19 total): sequence variant 6, sequence conflict 3, binding site 3, splice variant 2, chain 1, domain 1, mutagenesis site 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0R5-F1 | 88.43 | 0.57 |
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 (3): 45–52; 67–69; 97–101
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 105 | promotes ubiquitination and degradation by s. flexneri ipah9.8. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-877300 | Interferon gamma signaling |
| R-HSA-9948001 | CASP4 inflammasome assembly |
| R-HSA-9953170 | GBP-mediated host defense |
| R-HSA-9956593 | Enterobacterial factors antagonize host defense |
MSigDB gene sets: 144 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, ROZANOV_MMP14_TARGETS_UP, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RESPONSE_TO_INTERLEUKIN_1, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_LIPID, GOBP_DEFENSE_RESPONSE_TO_VIRUS
GO Biological Process (10): defense response to bacterium (GO:0042742), defense response to virus (GO:0051607), cytolysis in another organism (GO:0051715), cellular response to lipopolysaccharide (GO:0071222), cellular response to type II interferon (GO:0071346), cellular response to interleukin-1 (GO:0071347), cellular response to tumor necrosis factor (GO:0071356), positive regulation of pyroptotic inflammatory response (GO:0140639), immune system process (GO:0002376), innate immune response (GO:0045087)
GO Molecular Function (7): GTPase activity (GO:0003924), GTP binding (GO:0005525), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (7): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410), perinuclear region of cytoplasm (GO:0048471), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Interferon Signaling | 1 |
| Non-canonical inflammasome activation | 1 |
| Antimicrobial mechanism of IFN-stimulated genes | 1 |
| Infection with Enterobacteria | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 4 |
| cellular response to cytokine stimulus | 3 |
| defense response | 2 |
| response to bacterium | 1 |
| response to virus | 1 |
| cytolysis | 1 |
| killing of cells of another organism | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to type II interferon | 1 |
| response to interleukin-1 | 1 |
| response to tumor necrosis factor | 1 |
| positive regulation of inflammatory response | 1 |
| pyroptotic inflammatory response | 1 |
| biological_process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| intracellular anatomical structure | 1 |
| intracellular vesicle | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GBP3 | ISG15 | P05161 | 611 |
| GBP3 | IFNG | P01579 | 586 |
| GBP3 | IRGM | A1A4Y4 | 586 |
| GBP3 | IRF9 | Q00978 | 572 |
| GBP3 | IFI44 | Q8TCB0 | 551 |
| GBP3 | IL1B | P01584 | 535 |
| GBP3 | RTP4 | Q96DX8 | 513 |
| GBP3 | MAP4K4 | O95819 | 504 |
| GBP3 | TNF | P01375 | 482 |
| GBP3 | CMPK2 | Q5EBM0 | 476 |
| GBP3 | IFIT3 | O14879 | 474 |
| GBP3 | GBP2 | P32456 | 465 |
| GBP3 | PYHIN1 | Q6K0P9 | 462 |
| GBP3 | IFIT1 | P09914 | 446 |
| GBP3 | IRF1 | P10914 | 435 |
| GBP3 | HERC6 | Q8IVU3 | 435 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GBP1 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.790 |
| GBP1 | GBP2 | psi-mi:“MI:0914”(association) | 0.720 |
| GBP2 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GBP3 | MAP4K4 | psi-mi:“MI:0915”(physical association) | 0.590 |
| GBP3 | MAP4K4 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| MAP4K4 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.590 |
| GBP3 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.510 |
| GBP5 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.510 |
| GBP3 | S100A10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-2 | GBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GBP2 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.350 |
| GBP3 | ACTL6B | psi-mi:“MI:0914”(association) | 0.350 |
| GBP3 | tktA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): GBP3 (Affinity Capture-MS), GBP3 (Affinity Capture-MS), GBP3 (Affinity Capture-MS), GBP3 (Proximity Label-MS), GBP3 (Proximity Label-MS), GBP3 (Reconstituted Complex), MAP4K4 (Affinity Capture-Western), MAP4K4 (Two-hybrid), GBP3 (Affinity Capture-MS), GBP3 (Affinity Capture-MS), GBP2 (Affinity Capture-MS), ACTL6B (Affinity Capture-MS), DECR2 (Affinity Capture-MS), CASP6 (Affinity Capture-MS), GBP3 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A0G2JDV3, A0MWD1, A1E2I4, A4UUI3, A6QQL3, A7VK00, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, P20591, P20592, P32455, P32456, Q01514, Q0VCP4, Q14141, Q1MT80, Q28379, Q2KTC2, Q3SZN0, Q4R555, Q5D1D6, Q5I2P5, Q5R5G3, Q5R9T9, Q5RBE1, Q61107, Q63663, Q642H3, Q6AXA6, Q6IRQ5, Q6ZN66, Q6ZU15, Q8C1B7, Q8C650, Q8CFB4
Diamond homologs: A0A0G2JDV3, A4UUI3, P32455, P32456, Q01514, Q1MT80, Q5D1D6, Q5R9T9, Q5RBE1, Q61107, Q63663, Q6ZN66, Q8CFB4, Q8N8V2, Q91Z40, Q96PP8, Q96PP9, Q9H0R5, Q9Z0E6, A0E2L1, B6K0N7, P0CQ46, P0CQ47, A5DB26, Q4PEQ0, Q525S7, Q9UTE0, A0A386CAB9, Q9P5X6, C4JQN4, Q6BK59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1738 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:89008942:GATAC:G | donor_loss | 1.0000 |
| 1:89008943:ATAC:A | donor_loss | 1.0000 |
| 1:89008945:ACC:A | donor_loss | 1.0000 |
| 1:89008946:C:CT | donor_loss | 1.0000 |
| 1:89009136:TTCCA:T | acceptor_gain | 1.0000 |
| 1:89009137:TCCA:T | acceptor_gain | 1.0000 |
| 1:89009138:CCA:C | acceptor_gain | 1.0000 |
| 1:89009138:CCAC:C | acceptor_gain | 1.0000 |
| 1:89009139:CA:C | acceptor_gain | 1.0000 |
| 1:89009139:CAC:C | acceptor_gain | 1.0000 |
| 1:89009140:ACT:A | acceptor_loss | 1.0000 |
| 1:89009141:C:CA | acceptor_loss | 1.0000 |
| 1:89009141:C:CC | acceptor_gain | 1.0000 |
| 1:89009143:G:GC | acceptor_gain | 1.0000 |
| 1:89009496:T:C | acceptor_gain | 1.0000 |
| 1:89009504:C:CT | acceptor_gain | 1.0000 |
| 1:89009504:C:T | acceptor_gain | 1.0000 |
| 1:89009505:A:T | acceptor_gain | 1.0000 |
| 1:89011778:T:TA | donor_gain | 1.0000 |
| 1:89013183:A:AC | donor_gain | 1.0000 |
| 1:89013184:C:CC | donor_gain | 1.0000 |
| 1:89013184:CGAGG:C | donor_gain | 1.0000 |
| 1:89013207:T:TA | donor_gain | 1.0000 |
| 1:89013262:A:AC | donor_gain | 1.0000 |
| 1:89013263:C:CC | donor_gain | 1.0000 |
| 1:89014118:T:C | donor_gain | 1.0000 |
| 1:89014561:AG:A | donor_gain | 1.0000 |
| 1:89014653:CACC:C | acceptor_gain | 1.0000 |
| 1:89014655:CC:C | acceptor_gain | 1.0000 |
| 1:89014656:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
3929 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:89014606:G:C | S123R | 0.970 |
| 1:89014606:G:T | S123R | 0.970 |
| 1:89014608:T:G | S123R | 0.970 |
| 1:89015410:G:C | F65L | 0.961 |
| 1:89015410:G:T | F65L | 0.961 |
| 1:89015412:A:G | F65L | 0.961 |
| 1:89014603:G:C | S124R | 0.957 |
| 1:89014603:G:T | S124R | 0.957 |
| 1:89014605:T:G | S124R | 0.957 |
| 1:89014176:A:G | W178R | 0.953 |
| 1:89014176:A:T | W178R | 0.953 |
| 1:89013273:A:C | F260L | 0.947 |
| 1:89013273:A:T | F260L | 0.947 |
| 1:89013275:A:G | F260L | 0.947 |
| 1:89011812:C:G | A362P | 0.941 |
| 1:89013369:G:C | F228L | 0.941 |
| 1:89013369:G:T | F228L | 0.941 |
| 1:89013371:A:G | F228L | 0.941 |
| 1:89015324:A:T | V94D | 0.940 |
| 1:89013351:A:C | F234L | 0.939 |
| 1:89013351:A:T | F234L | 0.939 |
| 1:89013353:A:G | F234L | 0.939 |
| 1:89011911:C:G | A329P | 0.935 |
| 1:89020570:T:A | K51I | 0.920 |
| 1:89011783:G:C | F371L | 0.915 |
| 1:89011783:G:T | F371L | 0.915 |
| 1:89011785:A:G | F371L | 0.915 |
| 1:89013219:T:A | K278N | 0.904 |
| 1:89013219:T:G | K278N | 0.904 |
| 1:89011027:G:C | F413L | 0.902 |
dbSNP variants (sampled 300 via entrez): RS1000386063 (1:89013076 G>A,T), RS1000464213 (1:89011257 T>TA), RS1000565183 (1:89018870 T>C), RS1000733588 (1:89009944 C>A,G), RS1000766409 (1:89010163 C>G), RS1000771786 (1:89012439 C>A,G), RS1000816677 (1:89024713 A>T), RS1000892266 (1:89024780 C>A), RS1000961892 (1:89018620 A>C,G), RS1001078426 (1:89018832 G>T), RS1001204536 (1:89021841 G>A), RS1001340368 (1:89022088 T>C), RS1001453925 (1:89015476 G>A), RS1001512438 (1:89008004 T>C), RS1001654993 (1:89012994 T>C)
Disease associations
OMIM: gene MIM:600413 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003114_9 | Carotid intima media thickness | 2.000000e-06 |
| GCST012490_650 | Femur bone mineral density x serum urate levels interaction | 6.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 4 |
| sodium arsenite | increases abundance, increases expression, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| fulvic acid | affects cotreatment, decreases reaction, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| hydroxyhydroquinone | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | increases expression | 1 |
| beta-hydroxy simvastatin acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| BIX 01294 | increases expression, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Calcimycin | affects cotreatment, decreases reaction, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Citrulline | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2MW | Abcam A-549 GBP3 KO | Cancer cell line | Male |
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.