LGALS3BP

Summary

LGALS3BP (galectin 3 binding protein, HGNC:6564) is a protein-coding gene on chromosome 17q25, encoding Galectin-3-binding protein (Q08380). Promotes integrin-mediated cell adhesion.

The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1.

Source: NCBI Gene 3959 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 103 total
• Druggable target: yes
• MANE Select transcript: NM_005567

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6564
Approved symbol	LGALS3BP
Name	galectin 3 binding protein
Location	17q25
Locus type	gene with protein product
Status	Approved
Aliases	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP
Ensembl gene	ENSG00000108679
Ensembl biotype	protein_coding
OMIM	600626
Entrez	3959

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 29 protein_coding, 8 nonsense_mediated_decay, 4 retained_intron

ENST00000262776, ENST00000585407, ENST00000586300, ENST00000586720, ENST00000587251, ENST00000587310, ENST00000587311, ENST00000588198, ENST00000588205, ENST00000588508, ENST00000588587, ENST00000588899, ENST00000588990, ENST00000589527, ENST00000589775, ENST00000589906, ENST00000591274, ENST00000591778, ENST00000592255, ENST00000857449, ENST00000857450, ENST00000857451, ENST00000857452, ENST00000857453, ENST00000857454, ENST00000857455, ENST00000857456, ENST00000857457, ENST00000857458, ENST00000857459, ENST00000932416, ENST00000932417, ENST00000953691, ENST00000953692, ENST00000953693, ENST00000953694, ENST00000953695, ENST00000953696, ENST00000953697, ENST00000953698, ENST00000953699

RefSeq mRNA: 1 — MANE Select: NM_005567 NM_005567

CCDS: CCDS11759

Canonical transcript exons

ENST00000262776 — 6 exons

Exon	Start	End
ENSE00001253507	78977140	78977214
ENSE00002883543	78979824	78979923
ENSE00003516590	78971255	78972704
ENSE00003551057	78975965	78976156
ENSE00003645813	78974688	78974819
ENSE00003791461	78972970	78973222

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 88.0837 / max 737.4988, expressed in 1718 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168529	85.7779	1717
168528	2.3058	816

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.31	gold quality
right adrenal gland cortex	UBERON:0035827	99.31	gold quality
gall bladder	UBERON:0002110	99.26	gold quality
right uterine tube	UBERON:0001302	99.23	gold quality
right adrenal gland	UBERON:0001233	99.20	gold quality
left adrenal gland	UBERON:0001234	99.20	gold quality
left adrenal gland cortex	UBERON:0035825	99.19	gold quality
apex of heart	UBERON:0002098	99.17	gold quality
ileal mucosa	UBERON:0000331	99.09	gold quality
adenohypophysis	UBERON:0002196	99.08	gold quality
adrenal cortex	UBERON:0001235	99.06	gold quality
right atrium auricular region	UBERON:0006631	99.06	gold quality
stromal cell of endometrium	CL:0002255	98.94	gold quality
right ovary	UBERON:0002118	98.94	gold quality
cardiac atrium	UBERON:0002081	98.87	gold quality
pituitary gland	UBERON:0000007	98.83	gold quality
left ovary	UBERON:0002119	98.80	gold quality
transverse colon	UBERON:0001157	98.77	gold quality
heart left ventricle	UBERON:0002084	98.76	gold quality
endocervix	UBERON:0000458	98.75	gold quality
body of stomach	UBERON:0001161	98.74	gold quality
cardiac ventricle	UBERON:0002082	98.72	gold quality
adrenal gland	UBERON:0002369	98.68	gold quality
ectocervix	UBERON:0012249	98.64	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.60	gold quality
upper lobe of left lung	UBERON:0008952	98.59	gold quality
left uterine tube	UBERON:0001303	98.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.57	gold quality
rectum	UBERON:0001052	98.56	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	117.59
E-MTAB-10287	yes	104.81
E-MTAB-8410	yes	62.62
E-HCAD-11	yes	51.21
E-GEOD-135922	yes	47.61
E-HCAD-1	yes	18.91
E-MTAB-6678	yes	16.44
E-HCAD-4	yes	15.82
E-GEOD-93593	yes	15.42
E-HCAD-13	yes	14.08
E-CURD-46	yes	13.27
E-CURD-112	yes	9.72
E-HCAD-9	yes	6.75
E-MTAB-10553	yes	5.76
E-MTAB-6142	no	1442.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB5, NFKB, STAT3, USF1, USF2

miRNA regulators (miRDB)

20 targeting LGALS3BP, 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-590-3P	99.96	74.34	6478
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-548Q	98.71	65.35	563
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-4800-5P	97.22	65.91	324
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-8071	95.69	64.93	484
HSA-MIR-3914	94.91	65.77	643

Literature-anchored findings (GeneRIF, showing 40)

• structural and functional properties of M2BP (PMID:11867635)
• Expression of 90K (Mac-2 BP) correlates with distant metastasis and predicts survival in stage I non-small cell lung cancer patients. (PMID:11980646)
• REVIEW: role in tumor progression and metastasis (PMID:14758079)
• 90K plays an important role in the maintenance of an appropriate level of immune response. (PMID:15231701)
• a possible mechanism by which Tumor-associated antigen 90K may contribute to colon cancer progression is by modulating tumor cell adhesion to extracellular proteins, including galectin-3 (PMID:16518858)
• There is no difference in Gal-3 expression in peripheral blood lymphocytes in patients with papillary thyroid cancer (PMID:17091455)
• Elevated Mac-2 binding protein is associated with distant metastasis and higher tumor stage in gastric cancer (PMID:17131321)
• serum galectin 3 binding protein (G3BP) levels were increased in Behcet’s patients when compared with healthy controls and patients with inactive disease (PMID:17949550)
• galectin-3-binding protein as a factor secreted by neuroblastoma cells that stimulates the expression of interleukin-6 in bone marrow stromal cells and provides a novel function for this protein in cancer progression. (PMID:18450743)
• identified extracellular endosialin ligands and identified Mac-2 BP/90K as a specific interaction partner (PMID:18490383)
• EGF signal is critical for the Mac-2BP expression, and more importantly, STAT3 protein could work as a negative regulator, while human telomerase reverse transcriptase as a positive regulator in Mac-2BP transcription. (PMID:18594176)
• Mac-2 binding protein was found to be overexpressed in oral squamous cell carcinoma (OSCC) specimens and significantly elevated in the sera of OSCC patients compared to healthy controls (PMID:18646789)
• NGF induces Mac-2BP expression via the PI3K/Akt/NF-kappaB pathway. (PMID:19017490)
• High serum 90K (median value >or=1,249.50 ng/ml) showed a significant association with stage III/IV, >or=2 extranodal involvements and risk of high/high-intermediate international prognostic index (PMID:19153476)
• the Mac-2 BP may play a role in the development and progression of mucinous ovarian tumours (PMID:19291534)
• Engineered enhancement of LGALS3BP expression in EWS cells resulted in inhibition of anchorage independent cell growth/reduction of cell migration and metastasis. Silencing of LGALS3BP expression reverted cell behavior with respect to in vitro parameters (PMID:19544526)
• Initial assessment showed that serum Mac-2BP is significantly elevated in patients with NET (neuroendocrine tumors) and is expressed by the majority of NET tissues. (PMID:20019050)
• Serum Mac-2BP does not appear to originate in the prostate and it is unlikely that Mac-2BP can be used for the differential diagnosis of prostate cancer versus benign prostatic hyperplasia. (PMID:20583127)
• These results suggest that galectin-3 binding protein may be a potential therapeutic target for treatment of, at least, colon cancer patients with high expression of galectin-3 binding protein. (PMID:21094132)
• serum changes of three glycoproteins, galectin-3 binding protein, insulin-like growth factor binding protein 3, and thrombospondin 1, was associated with the development of hepatocellular carcinoma (PMID:21474793)
• Mac-2BP was detected as a predominant DC-SIGN ligand expressed on some primary colorectal cancer tissues (PMID:21515679)
• LGALS3BP gene was expressed by neuroblatoma cell lines and patients’ neuroblasts (PMID:21660451)
• results show that NF-kappaB regulated the expression of G3BP and that G3BP increased the adhesion of T47D breast cancer cells to fibronectin (PMID:22447108)
• Adeno-associated virus type 6 interacts with G3BP in human and dog sera but not in macaque serum. (PMID:22496229)
• LGALS3BP induces vascular endothelial growth factor in human breast cancer cells and promotes angiogenesis. (PMID:22864925)
• breast cancer cells express Mac-2BP as a novel E-selectin ligand, potentially revealing a new prognostic and therapeutic target for breast cancer (PMID:22970241)
• The expression of serum Mac-2 binding protein is a potential therapeutic target and biomarker for lung cancer. (PMID:23184915)
• MIR596 is frequently observed in oral squamous cell carcinoma and regulates expression of LGAL3BP. (PMID:23233740)
• LGALS3BP suppresses assembly of centriolar substructures. (PMID:23443559)
• Serum Mac-2 binding protein levels as a novel diagnostic biomarker for prediction of disease severity and nonalcoholic steatohepatitis (PMID:23775887)
• Recombinant 90K showed an apparent molecular weight of approximately 78kDa which was much smaller than that ( approximately 97kDa) of the natural 90K. It is suggested that recombinant 90K has small N-glycans with about half the molecular weight of N-glycans of natural 90K. (PMID:23830458)
• Studied levels of galectin-3 binding protein in milk from 247 HIV-infected Zambian mothers. Levels were higher in those mothers who transmitted HIV through breast-feeding. (PMID:23899964)
• Thus, 90K constitutes a novel antiviral factor that reduces the particle infectivity of HIV-1, involving interference with the maturation and incorporation of HIV-1 Env molecules into virions. (PMID:24156545)
• LGALS3BP is enriched in human ovarian carcinoma exosomes. (PMID:24302979)
• LGALS3BP-mediated integrin activation results into signal transmission via Akt, JNK and the Ras cascade via the Raf-ERK axis while p38 activity is kept at baseline levels (PMID:24362527)
• Gal-3BP levels in patients with haemorrhagic fever with renal syndrome correlated with increased complement activation and with clinical variables reflecting the severity of acute hantavirus infection. (PMID:25013204)
• These findings suggest a novel immunoinhibitory function for LGALS3BP that might be important for immune evasion of tumor cells during cancer progression. (PMID:25320078)
• Post-Tx WFA+-M2BP (> 2.0 COI) is associated with the risk for development of HCC among patients with SVR. The WFA+-M2BP values could be a new predictor for HCC after SVR. (PMID:26070204)
• Results provide direct evidence for the involvement of CALU and LGALS3BP as potential negative regulators in the virus-triggered induction of the typeI interferons. (PMID:26124285)
• study elucidates the specificity of Gal-3BP interacting with galectin-1 and the role of Gal-3BP in cancer cell aggregation and metastasis (PMID:26168351)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-14d8.20	ENSDARG00000045837
mus_musculus	Lgals3bp	ENSMUSG00000033880
rattus_norvegicus	Lgals3bp	ENSRNOG00000003217
drosophila_melanogaster	Loxl2	FBGN0034660

Paralogs (15): CD6 (ENSG00000013725), CD5L (ENSG00000073754), CD5 (ENSG00000110448), LOX (ENSG00000113083), LOXL3 (ENSG00000115318), LOXL1 (ENSG00000129038), LOXL2 (ENSG00000134013), LOXL4 (ENSG00000138131), SSC4D (ENSG00000146700), PRSS12 (ENSG00000164099), CD163 (ENSG00000177575), CD163L1 (ENSG00000177675), SSC5D (ENSG00000179954), DMBT1 (ENSG00000187908), SCART1 (ENSG00000214279)

Protein

Protein identifiers

Galectin-3-binding protein — Q08380 (reviewed: Q08380)

Alternative names: Basement membrane autoantigen p105, Lectin galactoside-binding soluble 3-binding protein, Mac-2-binding protein, Tumor-associated antigen 90K

All UniProt accessions (13): Q08380, K7EJD3, K7EJY8, K7EKQ5, K7ELA1, K7EM15, K7EN99, K7EP36, K7EQT9, K7ER67, K7ERZ6, K7ES75, K7ESM3

UniProt curated annotations — full annotation on UniProt →

Function. Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells.

Subunit / interactions. Homodimers and homomultimers. The multimers form ring-like structures with a diameter of 30-40 nm. Binds LGALS1 and LGALS3. Binds ITGB1, COL4A1, COL5A1, COL6A1, FN1 and NID. Interacts with the gamma-tubulin ring complex (gamma-TuRC), composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. The unglycosylated form interacts with PDE4DIP isoform 13/MMG8/SMYLE; this interaction may connect a pericentrosomal complex, made of AKAP9, CDK5RAP2, EB1/MAPRE1 and PDE4DIP, to the gamma-tubulin ring complex (gamma-TuRC) to promote microtubule assembly and acetylation.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Ubiquitous. Detected in body fluids such as semen, milk, serum, tears, saliva and urine. Expressed by keratinocytes and fibroblasts.

RefSeq proteins (1): NP_005558* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR001190	SRCR	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR036772	SRCR-like_dom_sf	Homologous_superfamily
IPR051481	BTB-POZ/Galectin-3-binding	Family

Pfam: PF00530, PF07707

UniProt features (46 total): strand 11, helix 11, glycosylation site 7, sequence conflict 7, disulfide bond 3, domain 3, turn 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1BY2	X-RAY DIFFRACTION	2
6GFB	X-RAY DIFFRACTION	2.08

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08380-F1	82.47	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 49–113, 62–123, 93–103

Glycosylation sites (7): 551, 580, 69, 125, 192, 362, 398

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-109582	Hemostasis
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 398 (showing top): VALK_AML_WITH_FLT3_ITD, BOYAULT_LIVER_CANCER_SUBCLASS_G56_DN, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, BECKER_TAMOXIFEN_RESISTANCE_UP, MODULE_64, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, BROWNE_HCMV_INFECTION_48HR_DN, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (4): cellular defense response (GO:0006968), cell adhesion (GO:0007155), signal transduction (GO:0007165), vesicle-mediated transport (GO:0016192)

GO Molecular Function (2): scavenger receptor activity (GO:0005044), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), membrane (GO:0016020), extracellular matrix (GO:0031012), platelet dense granule lumen (GO:0031089), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	3
cellular anatomical structure	3
defense response	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
transport	1
cargo receptor activity	1
binding	1
external encapsulating structure	1
secretory granule lumen	1
platelet dense granule	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

1786 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LGALS3BP	LGALS3	P17931	998
LGALS3BP	FN1	P02751	918
LGALS3BP	LGALS7B	P47929	905
LGALS3BP	CD209	Q9NNX6	723
LGALS3BP	LGALS1	P09382	657
LGALS3BP	CD9	P21926	633
LGALS3BP	HP	P00737	619
LGALS3BP	SEMG1	P04279	613
LGALS3BP	CLU	P10909	608
LGALS3BP	PPIC	P45877	602
LGALS3BP	SEMG2	Q02383	575
LGALS3BP	CD59	P13987	574
LGALS3BP	SELE	P16111	567
LGALS3BP	LGALS9	O00182	552
LGALS3BP	APCS	P02743	549

IntAct

210 interactions, top by confidence:

A	B	Type	Score
MZT2B	TUBG1	psi-mi:“MI:0914”(association)	0.770
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
ETV6	LRP6	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	TRIM21	psi-mi:“MI:0914”(association)	0.680
FXR2	CSNK2A2	psi-mi:“MI:0914”(association)	0.640
BCKDK	CETN3	psi-mi:“MI:0914”(association)	0.640
TRIM27	KPNA1	psi-mi:“MI:0914”(association)	0.640
TWNK	LGALS3BP	psi-mi:“MI:0915”(physical association)	0.590
CFTR	LGALS3BP	psi-mi:“MI:0403”(colocalization)	0.580
LGALS3BP	CFTR	psi-mi:“MI:0914”(association)	0.580
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
Mzt2	TUBG1	psi-mi:“MI:0914”(association)	0.560
Nup107	NUP98	psi-mi:“MI:0915”(physical association)	0.560
VHL	LGALS3BP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (434): LGALS3BP (Affinity Capture-MS), LGALS3BP (Affinity Capture-MS), LGALS3BP (Affinity Capture-MS), LGALS3BP (Affinity Capture-Western), LGALS3BP (Affinity Capture-MS), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Reconstituted Complex), LGALS3BP (Affinity Capture-MS), LGALS3BP (Affinity Capture-MS), LGALS3BP (Reconstituted Complex)

ESM2 similar proteins: A0A1L8HYT7, A3KMV1, A4IIK1, A7E3W2, E2RK30, E9PZ36, O22243, O54705, O62699, O70513, O75426, P00545, P07333, P08F94, P09581, P0C5J9, P13369, P29477, P29597, P52333, P70117, P79290, P86091, Q00495, Q06518, Q07797, Q08380, Q13049, Q20CR4, Q24JV9, Q27995, Q28314, Q38SD2, Q3UHC2, Q4R327, Q4VC12, Q4VSN2, Q5RDA4, Q63272, Q66KD0

Diamond homologs: A1L0T3, A1L1V4, A1L4H1, A5PJQ2, A6H737, A7E3W2, B4F6N6, B5DF27, B8A4W9, E1C3U7, F1QQC3, F1RD85, F7J220, G3V801, M9NDE3, O08762, O43866, O70513, P21757, P21758, P30203, P30204, P30205, P56730, P58022, P58215, P70117, P85521, Q05585, Q07797, Q08380, Q08B63, Q14DK5, Q24JV9, Q2VL90, Q2VLG4, Q2VLG6, Q2VLH6, Q4A3R3, Q4G0T1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CREB5	“down-regulates quantity by repression”	LGALS3BP	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 236 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.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of vascular endothelial growth factor production	5	13.0×	6e-03
negative regulation of type I interferon production	5	13.0×	6e-03
intrinsic apoptotic signaling pathway	6	11.3×	5e-03
autophagosome maturation	6	11.0×	5e-03
mitophagy	6	10.0×	6e-03
mRNA transport	6	8.3×	1e-02
G1/S transition of mitotic cell cycle	7	7.3×	6e-03
positive regulation of canonical NF-kappaB signal transduction	13	4.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	7
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

995 predictions. Top by Δscore:

Variant	Effect	Δscore
17:78972969:CCTG:C	donor_loss	1.0000
17:78973223:C:CC	acceptor_gain	1.0000
17:78975959:CCCTA:C	donor_loss	1.0000
17:78975960:CCTA:C	donor_loss	1.0000
17:78975961:CTA:C	donor_loss	1.0000
17:78975962:TAC:T	donor_loss	1.0000
17:78975964:C:A	donor_loss	1.0000
17:78979823:CCTGG:C	donor_gain	1.0000
17:78972703:ACC:A	acceptor_loss	0.9900
17:78972704:CCTGG:C	acceptor_loss	0.9900
17:78972705:C:G	acceptor_loss	0.9900
17:78972706:T:A	acceptor_loss	0.9900
17:78973002:AGCAT:A	donor_gain	0.9900
17:78973003:G:C	donor_gain	0.9900
17:78973221:TT:T	acceptor_gain	0.9900
17:78973224:T:G	acceptor_loss	0.9900
17:78974721:G:A	donor_gain	0.9900
17:78974818:TC:T	acceptor_gain	0.9900
17:78974819:CC:C	acceptor_gain	0.9900
17:78974820:C:CC	acceptor_gain	0.9900
17:78974821:T:C	acceptor_loss	0.9900
17:78975963:A:AC	donor_gain	0.9900
17:78975964:C:CC	donor_gain	0.9900
17:78975964:CCTTG:C	donor_gain	0.9900
17:78975968:G:A	donor_gain	0.9900
17:78976153:ACGC:A	acceptor_gain	0.9900
17:78976154:CGC:C	acceptor_gain	0.9900
17:78976154:CGCC:C	acceptor_gain	0.9900
17:78976157:C:A	acceptor_loss	0.9900
17:78976157:C:CC	acceptor_gain	0.9900

AlphaMissense

3805 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:78976050:C:A	W53C	1.000
17:78976050:C:G	W53C	1.000
17:78974740:C:A	W108C	0.999
17:78974740:C:G	W108C	0.999
17:78976074:C:A	W45C	0.999
17:78976074:C:G	W45C	0.999
17:78974696:C:G	C123S	0.998
17:78974697:A:T	C123S	0.998
17:78974786:C:G	C93S	0.998
17:78974787:A:T	C93S	0.998
17:78975972:G:C	F79L	0.998
17:78975972:G:T	F79L	0.998
17:78975974:A:G	F79L	0.998
17:78976052:A:G	W53R	0.998
17:78976052:A:T	W53R	0.998
17:78975973:A:C	F79C	0.997
17:78976023:G:C	C62W	0.997
17:78976063:C:T	C49Y	0.997
17:78976106:C:A	G35C	0.997
17:78971900:C:A	W478C	0.996
17:78971900:C:G	W478C	0.996
17:78974697:A:G	C123R	0.996
17:78976024:C:G	C62S	0.996
17:78976024:C:T	C62Y	0.996
17:78976025:A:T	C62S	0.996
17:78974695:G:C	C123W	0.995
17:78974696:C:T	C123Y	0.995
17:78974756:C:G	C103S	0.995
17:78974757:A:T	C103S	0.995
17:78974787:A:G	C93R	0.995

dbSNP variants (sampled 300 via entrez): RS1000467091 (17:78974339 G>A,C), RS1000865792 (17:78971450 G>A), RS1001057252 (17:78981407 G>A), RS1001371604 (17:78976497 C>A,T), RS1001744474 (17:78981493 G>A), RS1002056447 (17:78978799 C>T), RS1002236811 (17:78974369 G>A,T), RS1002838808 (17:78980196 C>T), RS1003035802 (17:78974097 A>G), RS1003096971 (17:78979250 C>T), RS1003373576 (17:78974329 T>C), RS1004207240 (17:78973407 C>T), RS1004656293 (17:78971120 T>C), RS1004729934 (17:78970903 T>C,G), RS1004763440 (17:78978109 G>C)

Disease associations

OMIM: gene MIM:600626 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_2249	Blood protein levels	4.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067101 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.09	Kd	81.37	nM	CHEMBL5653589
7.09	ED50	81.37	nM	CHEMBL5653589
5.00	Kd	9935	nM	CHEMBL3752910
5.00	ED50	9935	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148649: Binding affinity to human LGALS3BP incubated for 45 mins by Kinobead based pull down assay	kd	0.0814	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148649: Binding affinity to human LGALS3BP incubated for 45 mins by Kinobead based pull down assay	kd	9.9345	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	7
sodium arsenite	decreases expression, increases abundance, increases expression, affects splicing	5
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	4
bisphenol A	increases expression, affects expression	3
Tretinoin	affects cotreatment, increases expression	3
deoxynivalenol	decreases expression	2
Arsenic Trioxide	affects cotreatment, increases expression	2
Air Pollutants	increases abundance, increases oxidation, decreases expression, affects cotreatment	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Estradiol	affects cotreatment, increases expression	2
Smoke	decreases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
hempseed oil	affects cotreatment, decreases secretion	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
beta-lapachone	increases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
cupric chloride	decreases expression	1
nivalenol	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
JP8 aviation fuel	decreases expression	1
K 7174	decreases expression	1
cotylenin A	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651691	Binding	Binding affinity to human LGALS3BP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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