GBP2

Summary

GBP2 (guanylate binding protein 2, HGNC:4183) is a protein-coding gene on chromosome 1p22.2, encoding Guanylate-binding protein 2 (P32456). Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens.

This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas.

Source: NCBI Gene 2634 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_004120

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4183
Approved symbol	GBP2
Name	guanylate binding protein 2
Location	1p22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000162645
Ensembl biotype	protein_coding
OMIM	600412
Entrez	2634

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000370466, ENST00000463660, ENST00000464839, ENST00000493802, ENST00000875570, ENST00000875571, ENST00000875572, ENST00000875573, ENST00000875574, ENST00000875575, ENST00000875576, ENST00000875577, ENST00000970152

RefSeq mRNA: 1 — MANE Select: NM_004120 NM_004120

CCDS: CCDS719

Canonical transcript exons

ENST00000370466 — 11 exons

Exon	Start	End
ENSE00001067234	89117577	89117773
ENSE00001452787	89106132	89108291
ENSE00001452788	89125863	89126114
ENSE00001739258	89121143	89121270
ENSE00001751078	89120179	89120288
ENSE00002151490	89121777	89121983
ENSE00003545795	89112472	89112684
ENSE00003550995	89116992	89117234
ENSE00003607723	89110164	89110266
ENSE00003655035	89109677	89109870
ENSE00003665386	89114016	89114296

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.8827 / max 1233.3106, expressed in 1402 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13154	36.0791	1390
13153	1.3639	383
13148	0.3521	196
13152	0.0877	44

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	99.22	gold quality
calcaneal tendon	UBERON:0003701	98.74	gold quality
tendon	UBERON:0000043	98.71	gold quality
monocyte	CL:0000576	98.69	gold quality
mucosa of stomach	UBERON:0001199	98.59	gold quality
mononuclear cell	CL:0000842	98.57	gold quality
leukocyte	CL:0000738	98.54	gold quality
granulocyte	CL:0000094	98.44	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.04	gold quality
pericardium	UBERON:0002407	98.02	gold quality
lower esophagus	UBERON:0013473	98.02	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.02	gold quality
blood	UBERON:0000178	97.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.97	gold quality
cervix squamous epithelium	UBERON:0006922	97.81	gold quality
right adrenal gland	UBERON:0001233	97.77	gold quality
urethra	UBERON:0000057	97.66	gold quality
colonic epithelium	UBERON:0000397	97.46	gold quality
left adrenal gland	UBERON:0001234	97.46	gold quality
vena cava	UBERON:0004087	97.40	gold quality
adrenal cortex	UBERON:0001235	97.35	gold quality
left adrenal gland cortex	UBERON:0035825	97.34	gold quality
right adrenal gland cortex	UBERON:0035827	97.28	gold quality
urinary bladder	UBERON:0001255	97.26	gold quality
saphenous vein	UBERON:0007318	97.23	gold quality
descending thoracic aorta	UBERON:0002345	97.18	gold quality
body of uterus	UBERON:0009853	97.18	gold quality
penis	UBERON:0000989	97.13	gold quality
popliteal artery	UBERON:0002250	96.93	gold quality
tibial artery	UBERON:0007610	96.93	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-CURD-89	yes	1475.32
E-CURD-79	yes	838.42
E-MTAB-6075	yes	646.18
E-HCAD-1	yes	451.72
E-CURD-112	yes	446.15
E-MTAB-8142	yes	156.22
E-HCAD-8	yes	53.60
E-CURD-46	yes	19.50
E-CURD-120	no	37.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO3, IRF1, STAT1, TP53

miRNA regulators (miRDB)

100 targeting GBP2, 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-186-5P	99.99	70.83	3707
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-4729	99.69	72.18	4233

Literature-anchored findings (GeneRIF, showing 25)

• Sky1p utilizes the same docking groove to bind yeast SR-like protein Gbp2p and phosphorylates all three serines present in a contiguous RS dipeptide stretch (PMID:17517895)
• GBP-2 is regulated by p53 and may have a role in esophageal squamous cell carcinomas (PMID:19003964)
• Guanylate-binding protein 2 mRNA in peripheral blood leukocytes may have a role in acute cellular rejection after liver transplantation (PMID:19912588)
• hGBP-1, hGBP-2 showed dimerization-related GTPase activity for GMP formation. (PMID:20923658)
• The in vivo localization of GBP-2 at cellular membranes is regulated by isoprenylation and dimerization. (PMID:21151871)
• Downregulation of MIR-433 is associated with myeloproliferative neoplasms. (PMID:22864358)
• Low GBP2 expression is associated with metastasis in breast cancer. (PMID:23001506)
• GBP1/2 are critical effectors of antichlamydial interferon (IFN)gamma-mediated pathogen clearance via rerouting of bacterial inclusions in macrophages for lysosomal degradation. (PMID:23086406)
• Study presents the first demonstration that GBP2 inhibits mitochondrial fission and cell metastasis in breast cancer cells both in vitro and in vivo. (PMID:29072687)
• Guanylate-Binding Proteins 2 and 5 Exert Broad Antiviral Activity by Inhibiting Furin-Mediated Processing of Viral Envelope Proteins. (PMID:31091448)
• GBP2 enhances glioblastoma invasion through Stat3/fibronectin pathway. (PMID:32518375)
• Structural basis for GTP-induced dimerization and antiviral function of guanylate-binding proteins. (PMID:33876762)
• GBP2 Is a Favorable Prognostic Marker of Skin Cutaneous Melanoma and Affects Its Progression via the Wnt/beta-catenin Pathway. (PMID:34921030)
• Subtyping of microsatellite stability colorectal cancer reveals guanylate binding protein 2 (GBP2) as a potential immunotherapeutic target. (PMID:35383115)
• Lower Expression of GBP2 Associated With Less Immune Cell Infiltration and Poor Prognosis in Skin Cutaneous Melanoma (SKCM). (PMID:35543550)
• GBP2 acts as a member of the interferon signalling pathway in lupus nephritis. (PMID:36115937)
• GBP2 serves as a novel prognostic biomarker and potential immune microenvironment indicator in renal cell carcinoma. (PMID:36222186)
• Guanine nucleotide-binding protein 2, GNBP2, accelerates the progression of clear cell renal cell carcinoma via regulation of STAT3 signaling transduction pathway. (PMID:36346541)
• Differential expression of interferon inducible protein: Guanylate binding protein (GBP1 & GBP2) in severe dengue. (PMID:36460216)
• Dnmt1/Tet2-mediated changes in Cmip methylation regulate the development of nonalcoholic fatty liver disease by controlling the Gbp2-Ppargamma-CD36 axis. (PMID:36609599)
• GBP2 promotes clear cell renal cell carcinoma progression through immune infiltration and regulation of PDL1 expression via STAT1 signaling. (PMID:36660930)
• GBP2 promotes M1 macrophage polarization by activating the notch1 signaling pathway in diabetic nephropathy. (PMID:37622120)
• GBP2 inhibits pathological angiogenesis in the retina via the AKT/mTOR/VEGFA axis. (PMID:38636926)
• Weighted gene co-expression network analysis identified GBP2 connected to PPARalpha activity and liver cancer. (PMID:39251636)
• The Furin Protease Dependence and Antiviral GBP2 Sensitivity of Murine Leukemia Virus Infection Are Determined by the Amino Acid Sequence at the Envelope Glycoprotein Cleavage Site. (PMID:39337476)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gbp2	ENSDARG00000038669
mus_musculus	Gbp2	ENSMUSG00000028270
mus_musculus	Gbp2b	ENSMUSG00000040264
rattus_norvegicus	Gbp2	ENSRNOG00000031743
drosophila_melanogaster	atl	FBGN0039213

Paralogs (10): GBP3 (ENSG00000117226), GBP1 (ENSG00000117228), ATL2 (ENSG00000119787), RNF112 (ENSG00000128482), GBP5 (ENSG00000154451), GBP4 (ENSG00000162654), GBP6 (ENSG00000183347), ATL3 (ENSG00000184743), ATL1 (ENSG00000198513), GBP7 (ENSG00000213512)

Protein

Protein identifiers

Guanylate-binding protein 2 — P32456 (reviewed: P32456)

Alternative names: GTP-binding protein 2, Guanine nucleotide-binding protein 2, Interferon-induced guanylate-binding protein 2

All UniProt accessions (1): P32456

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 to GMP in 2 consecutive cleavage reactions, but the major reaction product is GDP. 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. Confers protection to the protozoan pathogen Toxoplasma gondii. Independently of its GTPase activity, acts as an inhibitor of various viruses infectivity, such as HIV-1, Zika and influenza A viruses, by inhibiting FURIN-mediated maturation of viral envelope proteins.

Subunit / interactions. Homodimer; homodimerization occurs upon GTP-binding and is required for the association with membranous structures. Heterodimer with other family members, including GBP1, GBP3, GBP4 and GBP5.

Subcellular location. Cytoplasmic vesicle membrane. Golgi apparatus membrane. Cytoplasm. Perinuclear region.

Post-translational modifications. (Microbial infection) Ubiquitinated by S.flexneri IpaH9.8, leading to its degradation by the proteasome, thereby preventing its ability to promote host defense against bacterial infection. Isoprenylation is required for proper subcellular location.

Induction. By IFNG/IFN-gamma during macrophage activation, and by TNF and IL1B.

Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.

RefSeq proteins (1): NP_004111* (*=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 (56 total): helix 23, strand 13, turn 5, sequence variant 3, binding site 3, mutagenesis site 2, chain 1, propeptide 1, sequence conflict 1, domain 1, region of interest 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6VKJ	X-RAY DIFFRACTION	2.1
7E58	X-RAY DIFFRACTION	2.6
7M1S	X-RAY DIFFRACTION	2.91

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P32456-F1	89.56	0.65

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; 181–182; 245

Post-translational modifications (2): 588, 588

Mutagenesis-validated functional residues (2):

Position	Phenotype
588–591	no effect on subcellular location by confocal microscopy, but loss of membrane-association by subcellular fractionation.
588	loss of isoprenylation and of localization at the golgi apparatus.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling
R-HSA-909733	Interferon alpha/beta 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: 509 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, TSENG_IRS1_TARGETS_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_45, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_128, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN

GO Biological Process (18): activation of innate immune response (GO:0002218), immune response (GO:0006955), protein localization to nucleus (GO:0034504), defense response to bacterium (GO:0042742), defense response to protozoan (GO:0042832), defense response to Gram-positive bacterium (GO:0050830), 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), positive regulation of AIM2 inflammasome complex assembly (GO:0140973), immune system process (GO:0002376), innate immune response (GO:0045087), symbiont entry into host cell (GO:0046718), protein maturation (GO:0051604)

GO Molecular Function (9): GTPase activity (GO:0003924), GTP binding (GO:0005525), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), molecular function inhibitor activity (GO:0140678), nucleotide binding (GO:0000166), endopeptidase inhibitor activity (GO:0004866), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (10): Golgi membrane (GO:0000139), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Interferon Signaling	2
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	5
cytoplasm	4
cellular response to cytokine stimulus	3
defense response	2
intracellular membrane-bounded organelle	2
activation of immune response	1
positive regulation of innate immune response	1
immune system process	1
response to stimulus	1
protein localization to organelle	1
response to bacterium	1
response to protozoan	1
defense response to other organism	1
defense 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
positive regulation of protein-containing complex assembly	1
AIM2 inflammasome complex assembly	1
regulation of AIM2 inflammasome complex assembly	1
positive regulation of inflammasome-mediated signaling pathway	1
biological_process	1
immune response	1
defense response to symbiont	1
viral life cycle	1
symbiont entry into host	1
gene expression	1
protein metabolic process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1

Protein interactions and networks

STRING

1536 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GBP2	IFNG	P01579	704
GBP2	IFIT2	P09913	699
GBP2	ATL1	Q8WXF7	670
GBP2	LGALS3	P17931	652
GBP2	OAS2	P29728	646
GBP2	IRF1	P10914	627
GBP2	GBP4	Q96PP9	620
GBP2	IL1B	P01584	611
GBP2	AIM2	O14862	608
GBP2	NXF1	Q9UBU9	589
GBP2	IFIH1	Q9BYX4	587
GBP2	STAT1	P42224	585
GBP2	TNF	P01375	566
GBP2	GAPDH	P00354	565
GBP2	IFIT3	O14879	543

IntAct

60 interactions, top by confidence:

A	B	Type	Score
GBP1	GBP2	psi-mi:“MI:0914”(association)	0.720
GBP1	GBP2	psi-mi:“MI:0915”(physical association)	0.720
GBP2	GBP1	psi-mi:“MI:0915”(physical association)	0.720
GBP2	GBP3	psi-mi:“MI:0915”(physical association)	0.720
GBP2	GBP2	psi-mi:“MI:0915”(physical association)	0.570
GBP2	GBP5	psi-mi:“MI:0915”(physical association)	0.510
GBP5	GBP2	psi-mi:“MI:0915”(physical association)	0.510
GBP2	GBP4	psi-mi:“MI:0915”(physical association)	0.510
	GBP2	psi-mi:“MI:0915”(physical association)	0.510
GBP2	USP20	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (67): SQSTM1 (Co-localization), GBP2 (Affinity Capture-MS), GBP3 (Affinity Capture-MS), GBP7 (Affinity Capture-MS), GBP2 (Affinity Capture-MS), ADD3 (Affinity Capture-MS), HSP90AB3P (Affinity Capture-MS), HSP90AA5P (Affinity Capture-MS), ADD1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HBA2 (Affinity Capture-MS), GBP2 (Biochemical Activity), GBP2 (Two-hybrid)

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

105 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2188 predictions. Top by Δscore:

Variant	Effect	Δscore
1:89109672:AATAC:A	donor_loss	1.0000
1:89109673:ATAC:A	donor_loss	1.0000
1:89109674:TA:T	donor_loss	1.0000
1:89109675:ACCTG:A	donor_loss	1.0000
1:89109676:C:CG	donor_loss	1.0000
1:89109866:TTCCA:T	acceptor_gain	1.0000
1:89109867:TCCA:T	acceptor_gain	1.0000
1:89109867:TCCAC:T	acceptor_gain	1.0000
1:89109868:CCA:C	acceptor_gain	1.0000
1:89109868:CCAC:C	acceptor_gain	1.0000
1:89109869:CA:C	acceptor_gain	1.0000
1:89109869:CACTG:C	acceptor_gain	1.0000
1:89109871:C:A	acceptor_loss	1.0000
1:89109871:C:CC	acceptor_gain	1.0000
1:89109872:T:G	acceptor_loss	1.0000
1:89109873:G:C	acceptor_gain	1.0000
1:89109873:G:GC	acceptor_gain	1.0000
1:89109884:A:AC	acceptor_gain	1.0000
1:89109884:A:C	acceptor_gain	1.0000
1:89110159:CTCAC:C	donor_loss	1.0000
1:89110160:TCA:T	donor_loss	1.0000
1:89110161:CA:C	donor_loss	1.0000
1:89110162:A:C	donor_loss	1.0000
1:89110163:CC:C	donor_loss	1.0000
1:89110263:TGGC:T	acceptor_gain	1.0000
1:89110264:GGC:G	acceptor_gain	1.0000
1:89110264:GGCCT:G	acceptor_loss	1.0000
1:89110265:GC:G	acceptor_gain	1.0000
1:89110266:CC:C	acceptor_gain	1.0000
1:89110266:CCTGG:C	acceptor_loss	1.0000

AlphaMissense

3933 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:89117670:A:G	W178R	0.992
1:89117670:A:T	W178R	0.992
1:89120238:G:C	S123R	0.992
1:89120238:G:T	S123R	0.992
1:89120240:T:G	S123R	0.992
1:89121815:T:A	K51I	0.989
1:89121266:G:C	F65L	0.988
1:89121266:G:T	F65L	0.988
1:89121268:A:G	F65L	0.988
1:89121180:A:T	V94D	0.986
1:89120235:G:C	S124R	0.982
1:89120235:G:T	S124R	0.982
1:89120237:T:G	S124R	0.982
1:89120259:A:C	F116L	0.982
1:89120259:A:T	F116L	0.982
1:89120261:A:G	F116L	0.982
1:89117176:G:C	F228L	0.980
1:89117176:G:T	F228L	0.980
1:89117178:A:G	F228L	0.980
1:89117026:C:A	K278N	0.978
1:89117026:C:G	K278N	0.978
1:89117080:G:C	F260L	0.978
1:89117080:G:T	F260L	0.978
1:89117082:A:G	F260L	0.978
1:89117158:G:C	F234L	0.978
1:89117158:G:T	F234L	0.978
1:89117160:A:G	F234L	0.978
1:89114199:G:C	N322K	0.976
1:89114199:G:T	N322K	0.976
1:89114052:G:C	F371L	0.975

dbSNP variants (sampled 300 via entrez): RS1000041540 (1:89118737 A>C), RS1000153944 (1:89119097 C>A), RS1000194640 (1:89112155 T>C), RS1000268674 (1:89127834 C>T), RS1000598138 (1:89127083 G>T), RS1000932447 (1:89123864 C>T), RS1001046025 (1:89117484 T>A), RS1001118479 (1:89110427 G>C), RS1001466583 (1:89110084 A>G), RS1001533129 (1:89126696 C>A), RS1001690231 (1:89126789 T>C,G), RS1001869206 (1:89113772 G>C), RS1002136870 (1:89109287 T>C), RS1002189043 (1:89109655 T>C), RS1002277941 (1:89120806 C>T)

Disease associations

OMIM: gene MIM:600412 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): inherited susceptibility to mycobacterial diseases (MONDO:0019146)

Orphanet (1): Mendelian susceptibility to mycobacterial diseases (Orphanet:748)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012020_233	Serum metabolite levels	6.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

81 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	5
bisphenol A	decreases expression, increases expression, increases methylation	4
Acetaminophen	decreases expression, increases expression	3
Estradiol	affects cotreatment, decreases expression	3
Tetrachlorodibenzodioxin	increases expression, affects expression	3
Tretinoin	increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases expression	3
sodium arsenite	decreases expression	2
bisphenol AF	decreases expression, increases expression	2
Formaldehyde	increases expression, decreases expression	2
Particulate Matter	decreases expression, increases expression	2
afuresertib	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
methylselenic acid	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
decabromobiphenyl ether	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
cupric chloride	decreases expression	1
hydroquinone	decreases expression	1
1-nitropyrene	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1FC	Abcam A-549 GBP2 KO 2	Cancer cell line	Male
CVCL_B2MV	Abcam A-549 GBP2 KO 1	Cancer cell line	Male
CVCL_SP73	HAP1 GBP2 (-) 1	Cancer cell line	Male
CVCL_SP74	HAP1 GBP2 (-) 2	Cancer cell line	Male
CVCL_SP75	HAP1 GBP2 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.