LRG1

Summary

LRG1 (leucine rich alpha-2-glycoprotein 1, HGNC:29480) is a protein-coding gene on chromosome 19p13.3, encoding Leucine-rich alpha-2-glycoprotein (P02750).

The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O’Donnell et al., 2002 [PubMed 12223515]).

Source: NCBI Gene 116844 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_052972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29480
Approved symbol	LRG1
Name	leucine rich alpha-2-glycoprotein 1
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	LRG
Ensembl gene	ENSG00000171236
Ensembl biotype	protein_coding
OMIM	611289
Entrez	116844

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000306390, ENST00000586883, ENST00000885090

RefSeq mRNA: 1 — MANE Select: NM_052972 NM_052972

CCDS: CCDS12130

Canonical transcript exons

ENST00000306390 — 2 exons

Exon	Start	End
ENSE00001162129	4536402	4538951
ENSE00002913301	4539982	4540036

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 98.77.

FANTOM5 (CAGE): breadth broad, TPM avg 28.5879 / max 10756.1379, expressed in 684 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178454	27.3199	606
178456	0.8964	324
178457	0.3716	160

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.77	gold quality
liver	UBERON:0002107	97.42	gold quality
pancreatic ductal cell	CL:0002079	96.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.79	gold quality
nasal cavity epithelium	UBERON:0005384	93.41	gold quality
blood	UBERON:0000178	93.31	gold quality
epithelial cell of pancreas	CL:0000083	88.60	silver quality
body of pancreas	UBERON:0001150	88.14	gold quality
nasal cavity mucosa	UBERON:0001826	87.80	gold quality
esophagus squamous epithelium	UBERON:0006920	86.24	gold quality
palpebral conjunctiva	UBERON:0001812	85.82	gold quality
bone marrow	UBERON:0002371	85.55	gold quality
gall bladder	UBERON:0002110	85.30	gold quality
pancreas	UBERON:0001264	84.94	gold quality
esophagus mucosa	UBERON:0002469	84.75	gold quality
vermiform appendix	UBERON:0001154	84.21	gold quality
parotid gland	UBERON:0001831	83.89	gold quality
saliva-secreting gland	UBERON:0001044	83.14	gold quality
bone marrow cell	CL:0002092	83.03	gold quality
minor salivary gland	UBERON:0001830	83.00	gold quality
leukocyte	CL:0000738	82.05	gold quality
body of stomach	UBERON:0001161	81.80	gold quality
mammalian vulva	UBERON:0000997	81.74	gold quality
monocyte	CL:0000576	81.70	gold quality
mouth mucosa	UBERON:0003729	81.56	gold quality
caecum	UBERON:0001153	81.37	gold quality
lower esophagus mucosa	UBERON:0035834	80.85	gold quality
spleen	UBERON:0002106	80.61	gold quality
islet of Langerhans	UBERON:0000006	80.17	gold quality
pharyngeal mucosa	UBERON:0000355	79.43	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	3052.55
E-MTAB-10855	yes	362.62
E-MTAB-10137	no	1018.79
E-MTAB-6142	no	17.44
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPE, SPI1

miRNA regulators (miRDB)

26 targeting LRG1, 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-432-3P	100.00	67.86	705
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-6771-3P	98.20	66.53	971
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-4750-3P	96.65	64.38	512

Literature-anchored findings (GeneRIF, showing 40)

• cDNA clones for human leucine-rich alpha2-glycoprotein were isolated. LRG expression was up-regulated during neutrophil differentiation but down-regulated during monocytic differentiation. The hLRG gene was localized to chromosome 19p13.3. (PMID:12223515)
• Mass spectrometry analysis identified the serum inhibitory factor as leucine-rich alpha-2-glycoprotein-1 in enzyme-linked immunosorbent assay . (PMID:16699948)
• These results also indicate that the CSF level assay of TGF-beta1, TbetaR-II and LRG is useful for the diagnosis of patients with INPH, and TGF-beta1, TbetaR-II and LRG may be involved in the pathogenesis of the disease. (PMID:17194537)
• Several indirect lines of evidence suggest a role for LRG in implantation/decidualization. (PMID:17583700)
• These results strongly suggest that LRG was a secretory type 1 acute-phase protein whose expression was up-regulated by the mediator of acute-phase response. (PMID:19324010)
• Serum LRG when bound to extracellular Cyt c that is released from apoptotic cells acts as a survival factor for lymphocytes and possibly other cells that are susceptible to the toxic effect of extracellular Cyt c. (PMID:19851871)
• autologous Cyt c is an endogeneous ligand for LRG and PLIbeta and these serum proteins neutralize the autologous Cyt c released from the dead cells (PMID:20442399)
• LRG1 was identified as a serum biomarker that accurately identifies patients with heart failure. (PMID:21282491)
• Screened for NSCLC-related proteins in urinary exosomes by comparing urinary exosomes proteome of normal controls and NSCLC patients. The LRG1 was found to be expressed at higher levels in urinary exosomes and lung tissue of NSCLC patients. (PMID:21557262)
• This study demonistrated that LRG expression in resident astrocytes increased with age. (PMID:22116432)
• Increased plasma levels of the APC-interacting protein MAPRE1, LRG1, and IGFBP2 precede a diagnosis of colorectal cancer in women (PMID:22277732)
• High Serum leucine-rich alpha-2 glycoprotein is associated with ulcerative colitis. (PMID:22374925)
• Overexpression of serum LRG1 is associated with non-small cell lung cancer. (PMID:23284758)
• Human LRG (hLRG) concentration in the cerebrospinal fluid (CSF) was measured and hLRG expression in post-mortem human cerebral cortex and mouse LRG (mLRG) in the brain were examined. (PMID:24058569)
• LRG1 potentially offered clinical value in directing personal treatment for endometrial carcinoma patients (PMID:24760273)
• Results suggest that serum LRG-1 is a promising biomarker for pancreatic cancer. (PMID:25058884)
• The blood proteins IGF1, IGF2, IBP2, IBP3 and A2GL have been proposed as indirect biomarkers for detection of GH administration and as putative biomarkers for breast cancer diagnosis. (PMID:25277046)
• silencing the expression of LRG1 suppresses the growth of glioblastoma U251 cells in vitro and in vivo, suggesting that LRG1 may play a critical role in glioblastoma development, and it may have potential clinical implications in glioblastoma therapy. (PMID:25589464)
• Higher LRG1 is a significant predictor for arterial stiffness, endothelial function, and peripheral arterial disease. (PMID:25636050)
• Data found LRG1 as a promising candidate marker for detection of epithelial ovarian cancer (EOC) and the combination of LRG1 and CA125 showed improved performance to distinguish EOC including early stage EOC from non-cases compared to CA125. (PMID:25799488)
• LGR1 is involved in the inhibition of HCC metastasis. (PMID:25814288)
• Findings suggest that LRG1 promotes invasion and migration of glioma cells through TGF-beta signaling pathway. (PMID:26049667)
• Two of these proteins were verified in a separate patient cohort: values of CRP and LRG1 combined gave a highly significant indication of extended survival post one week of radiotherapy treatment. (PMID:26425690)
• Reanalysis of a total of 47 MDS patients revealed biomarker candidates, with alpha-2-HS-glycoprotein and leucine-rich alpha-2-glycoprotein as the most promising candidates. (PMID:26448929)
• Data show that leucine-rich-alpha-2-glycoprotein 1 (LRG1) is markedly up-regulated and serves as an independent factor of poor outcomes in hepatocellular carcinoma (HCC). (PMID:26517349)
• Results provided evidence for LRG1 function as a novel inducer of epithelial-mesenchymal transition and angiogenesis in colorectal cancer, which was at least partially through promotion of HIF-1alpha expression. (PMID:26856989)
• LRG1 may be a key regulatory factor of allergic responses. (PMID:27378305)
• the expression of 3 miRs and 9 mRNAs associate with the PIK3CA status. Expression of LRG1 is independent of luminal (A or B) subtype, decreased after neo-adjuvant aromatase inhibitor treatment. (PMID:27491861)
• These findings suggest that sputum LRG is a promising biomarker of local inflammation in asthma. (PMID:27611322)
• Downregulation of LRG1 is associated with head and neck squamous cell carcinoma. (PMID:28098902)
• Serum leucine-rich alpha-2-glycoprotein (LRG) levels were significantly elevated in psoriasis vulgaris and psoriatic arthritis compared with healthy controls. Serum LRG correlated positively with CRP levels in patients with psoriasis vulgaris and in patients with psoriatic arthritis. These results indicate that serum LRG concentrations can be a useful alternative biomarker for psoriasis. (PMID:28179066)
• combination of modified whole blood LRG1 mRNA levels, plasma LRG1 protein and Alvarado score at the ED may be useful to diagnose simple and complicated acute appendicitis from other causes of abdominal pain (PMID:28202345)
• This study shows that TNF-alpha is the predominant proinflammatory cytokine that induces the secretion of LRG1. LRG1 contributes to angiogenesis-coupled de novo bone formation by increasing angiogenesis and recruiting MSCs in the subchondral bone of osteoarthritis joints. (PMID:28358372)
• LRG1 plays a crucial role in the proliferation and apoptosis of colorectal cancer (CRC) by regulating RUNX1 expression. LRG1 may be a potential detection biomarker as well as a marker for monitoring recurrence and therapeutic target for CRC. (PMID:28376129)
• The detection of LRG1 in accordance with the DeltaRct value (electron-transfer resistance at the electrode surface) of the sensor layer incorporating LRG1 BP3 peptides showed a statistically significant difference (p < 0.001) between adenomas and carcinomas, indicating that the potential use of this biosensing platform for detecting the CRC biomarker, as well as for monitoring the colorectal adenoma-to-carcinoma tra… (PMID:28697446)
• Results find serum LRG1 levels are significantly associated with LRG1 expression in gastric tumors. Its inhibition suppresses gastric cancer cell growth and invasion suggesting that LRG1 is implicating in gastric tumorigenesis. (PMID:28746773)
• Plasma leucine-rich alpha-2-glycoprotein-1 levels were not significantly different between female patients with right lower quadrant pain or acute appendicitis and controls. (PMID:28924279)
• Plasma LRG1 predicts both albuminuria and Chronic kidney disease progression beyond traditional risk factors. It may play a role in the pathologic pathway leading to progression of diabetic kidney disease in T2 Diabetes mellitus. (PMID:28973352)
• Culture of slices in lower glucose concentration was associated with lower Lrg1 methylation (PMID:29356143)
• LRG-1 was highly expressed in human retinoblastoma sections, thus providing new insights into the molecular mechanism of retinoblastoma pathogenesis, and suggests a possible new therapeutic target. (PMID:29392314)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	lgi1a	ENSDARG00000020493
danio_rerio	lgi1b	ENSDARG00000058421
danio_rerio	si:ch211-191d15.2	ENSDARG00000092834
mus_musculus	Lrg1	ENSMUSG00000037095
rattus_norvegicus	Lrg1	ENSRNOG00000049918
drosophila_melanogaster	Con	FBGN0005775
drosophila_melanogaster	kek3	FBGN0028370
drosophila_melanogaster	CG18095	FBGN0028872
drosophila_melanogaster	CG7509	FBGN0035575
caenorhabditis_elegans	lron-9	WBGENE00011971
caenorhabditis_elegans		WBGENE00020649
caenorhabditis_elegans		WBGENE00022789

Paralogs (22): CHADL (ENSG00000100399), LGI1 (ENSG00000108231), LGR6 (ENSG00000133067), CHAD (ENSG00000136457), LRIG3 (ENSG00000139263), LGR5 (ENSG00000139292), LRIG1 (ENSG00000144749), LRRTM2 (ENSG00000146006), LRIT1 (ENSG00000148602), LGI2 (ENSG00000153012), LGI4 (ENSG00000153902), LRRC52 (ENSG00000162763), ELFN2 (ENSG00000166897), LGI3 (ENSG00000168481), CPN2 (ENSG00000178772), LRIT3 (ENSG00000183423), LRRC26 (ENSG00000184709), LRIG2 (ENSG00000198799), LGR4 (ENSG00000205213), ELFN1 (ENSG00000225968), LRRC24 (ENSG00000254402), TRIL (ENSG00000255690)

Protein

Protein identifiers

Leucine-rich alpha-2-glycoprotein — P02750 (reviewed: P02750)

All UniProt accessions (1): P02750

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Plasma.

RefSeq proteins (1): NP_443204* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050467	LRFN	Family

Pfam: PF00560, PF13855

UniProt features (50 total): strand 13, repeat 8, turn 8, helix 8, glycosylation site 5, disulfide bond 2, sequence variant 2, signal peptide 1, chain 1, domain 1, site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7Q4Q	X-RAY DIFFRACTION	1.65
8H24	X-RAY DIFFRACTION	2.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02750-F1	89.71	0.83

Antibody-complex structures (SAbDab): 1 — 7Q4Q

Functional residue map

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

Catalytic / active sites (1): 306 (not glycosylated)

Disulfide bonds (2): 43–56, 303–329

Glycosylation sites (5): 37, 79, 186, 269, 325

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 184 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOCC_SECRETORY_GRANULE, GOBP_KERATINOCYTE_PROLIFERATION, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_POSITIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_WOUND_HEALING

GO Biological Process (13): positive regulation of endothelial cell proliferation (GO:0001938), immune response (GO:0006955), transforming growth factor beta receptor signaling pathway (GO:0007179), response to bacterium (GO:0009617), positive regulation of epithelial to mesenchymal transition (GO:0010718), positive regulation of keratinocyte proliferation (GO:0010838), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), wound healing, spreading of epidermal cells (GO:0035313), positive regulation of angiogenesis (GO:0045766), brown fat cell differentiation (GO:0050873), keratinocyte migration (GO:0051546), positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054), leukocyte adhesion to vascular endothelial cell (GO:0061756)

GO Molecular Function (5): type II transforming growth factor beta receptor binding (GO:0005114), type I transforming growth factor beta receptor binding (GO:0034713), transforming growth factor beta binding (GO:0050431), transforming growth factor beta receptor binding (GO:0005160), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), membrane (GO:0016020), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of epithelial cell proliferation	3
transforming growth factor beta receptor binding	2
cellular anatomical structure	2
intracellular organelle lumen	2
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
immune system process	1
response to stimulus	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
response to other organism	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
positive regulation of cell differentiation	1
positive regulation of multicellular organismal process	1
regulation of keratinocyte proliferation	1
keratinocyte proliferation	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
positive regulation of cellular response to transforming growth factor beta stimulus	1
wound healing, spreading of cells	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
fat cell differentiation	1
epithelial cell migration	1
wound healing	1
leukocyte cell-cell adhesion	1
growth factor binding	1
cytokine binding	1
cytokine receptor binding	1
binding	1
secretory granule lumen	1
specific granule	1
extracellular vesicle	1
tertiary granule	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

1388 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRG1	ENG	P17813	880
LRG1	CYCS	P00001	707
LRG1	SERPINA3	P01011	692
LRG1	CSF3	P09919	662
LRG1	APOA4	P06727	624
LRG1	TTR	P02766	621
LRG1	HP	P00737	571
LRG1	CP	P00450	567
LRG1	SERPINA1	P01009	507
LRG1	TF	P02787	507
LRG1	HPX	P02790	506
LRG1	A1BG	P04217	492
LRG1	LBP	P18428	488
LRG1	AFM	P43652	487
LRG1	ITIH3	Q06033	479

IntAct

30 interactions, top by confidence:

A	B	Type	Score
LRG1	CYCS	psi-mi:“MI:0914”(association)	0.620
LRG1	CYCS	psi-mi:“MI:0915”(physical association)	0.620
LRG1	ENG	psi-mi:“MI:0407”(direct interaction)	0.560
TGFBR1	LRG1	psi-mi:“MI:0914”(association)	0.520
LRG1	TGFBR1	psi-mi:“MI:0407”(direct interaction)	0.520
LRG1	ACVRL1	psi-mi:“MI:0915”(physical association)	0.500
ACVRL1	LRG1	psi-mi:“MI:0914”(association)	0.500
KLK10	LRG1	psi-mi:“MI:0403”(colocalization)	0.490
LRG1	TGFBR2	psi-mi:“MI:0407”(direct interaction)	0.440
LRG1	TGFBR1	psi-mi:“MI:0915”(physical association)	0.400
LRG1	ENG	psi-mi:“MI:0915”(physical association)	0.400
LRG1	TGFBR2	psi-mi:“MI:0915”(physical association)	0.400
	LRG1	psi-mi:“MI:0915”(physical association)	0.370
LRG1	NME2	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
UBE2U	IGLL5	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): CYCS (Affinity Capture-MS), NME2 (Affinity Capture-MS), LRG1 (Biochemical Activity), LRG1 (Affinity Capture-RNA), CYCS (Affinity Capture-MS), NME2 (Affinity Capture-MS), LRG1 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), LRG1 (Affinity Capture-MS), LRG1 (Affinity Capture-MS), LRG1 (Affinity Capture-MS), LRG1 (Co-fractionation), LRG1 (Co-fractionation)

ESM2 similar proteins: A1A4H9, A4IFA6, E7FE13, G3XA59, O02833, O08742, O08770, O14498, P02750, P22792, P35858, P35859, P40197, P59383, P70389, Q14392, Q149C3, Q28680, Q2EEY0, Q3ZBI5, Q5BK65, Q5I2M3, Q5I2M4, Q5I2M5, Q5I2M7, Q5I2M8, Q5NVQ6, Q5RF01, Q6EMK4, Q6P7C4, Q6QMY6, Q6QNU9, Q6R5P0, Q6UY18, Q80ZD5, Q86WK7, Q86YC3, Q8BGX3, Q8BMT4, Q8BXQ3

Diamond homologs: A3KNN3, A4IIW9, A6H789, A6H793, A6NJW4, A8WHP9, C3YZ59, E5DHB5, G5EFX6, O02678, O14498, O35367, O42235, O46542, O60938, O62702, O75093, O75094, O88186, O88279, O88280, O94813, P02750, P07585, P14770, P21793, P24014, P28654, P28675, P35379, P59034, P59035, P70193, P79763, Q01129, Q28888, Q29393, Q3SXY7, Q3UY51, Q3ZBN5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

501 predictions. Top by Δscore:

Variant	Effect	Δscore
19:4537942:A:AC	donor_gain	1.0000
19:4537943:C:CC	donor_gain	1.0000
19:4539977:CCTA:C	donor_loss	0.9900
19:4539978:CTA:C	donor_loss	0.9900
19:4539979:TACCT:T	donor_loss	0.9900
19:4539980:ACCT:A	donor_loss	0.9900
19:4539981:C:A	donor_loss	0.9900
19:4537951:TGGCC:T	donor_gain	0.9800
19:4537928:AAGCC:A	donor_gain	0.9600
19:4538947:CTGGG:C	acceptor_gain	0.9600
19:4538952:C:CC	acceptor_gain	0.9500
19:4539980:A:AC	donor_gain	0.9400
19:4539981:C:CC	donor_gain	0.9400
19:4539975:GACCT:G	donor_loss	0.9100
19:4539976:ACCTA:A	donor_loss	0.9100
19:4537950:TTGGC:T	donor_gain	0.9000
19:4537938:T:TA	donor_gain	0.8900
19:4538023:T:TA	donor_gain	0.8700
19:4537959:G:GA	donor_gain	0.8500
19:4538974:CTTA:C	acceptor_gain	0.8500
19:4538978:C:CC	acceptor_gain	0.8500
19:4539980:AC:A	donor_gain	0.8400
19:4539981:CC:C	donor_gain	0.8400
19:4539981:CCT:C	donor_gain	0.8200
19:4537943:CTGGG:C	donor_gain	0.8100
19:4538949:GGG:G	acceptor_gain	0.7600
19:4539981:CCTT:C	donor_gain	0.7600
19:4538977:A:AC	acceptor_gain	0.7500
19:4539464:T:C	acceptor_gain	0.7500
19:4538919:GTTCT:G	acceptor_gain	0.7400

AlphaMissense

2213 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:4538694:A:G	L97S	0.971
19:4537998:C:G	C329S	0.968
19:4537999:A:T	C329S	0.968
19:4538616:A:G	L123P	0.966
19:4538258:G:C	F242L	0.965
19:4538258:G:T	F242L	0.965
19:4538260:A:G	F242L	0.965
19:4538534:G:C	N150K	0.964
19:4538534:G:T	N150K	0.964
19:4538083:A:G	W301R	0.963
19:4538083:A:T	W301R	0.963
19:4538018:A:C	F322L	0.962
19:4538018:A:T	F322L	0.962
19:4538020:A:G	F322L	0.962
19:4538536:T:A	N150Y	0.957
19:4538753:G:C	F77L	0.952
19:4538753:G:T	F77L	0.952
19:4538755:A:G	F77L	0.952
19:4538081:C:A	W301C	0.951
19:4538081:C:G	W301C	0.951
19:4538174:G:C	N270K	0.949
19:4538174:G:T	N270K	0.949
19:4538087:G:C	N299K	0.945
19:4538087:G:T	N299K	0.945
19:4538688:A:G	L99P	0.945
19:4538076:C:G	C303S	0.944
19:4538077:A:T	C303S	0.944
19:4538544:A:G	L147S	0.943
19:4538076:C:T	C303Y	0.941
19:4538462:G:C	N174K	0.941

dbSNP variants (sampled 300 via entrez): RS1000218377 (19:4537692 C>G,T), RS1001437264 (19:4540127 T>A), RS1002368841 (19:4541580 G>C), RS1002864890 (19:4541100 G>C,T), RS1002906648 (19:4541829 C>T), RS1002992608 (19:4536027 T>A,C), RS1003322873 (19:4540972 T>G), RS1003485573 (19:4540527 A>G), RS1003777452 (19:4540276 G>A), RS1006922881 (19:4537355 G>A), RS1006953219 (19:4539604 G>T), RS1007289967 (19:4540915 T>C), RS1007363679 (19:4541209 C>A,T), RS1007431172 (19:4541724 G>A,C), RS1007472544 (19:4540653 T>G)

Disease associations

OMIM: gene MIM:611289 | 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: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	5
sodium arsenite	affects expression, decreases expression, increases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Tretinoin	increases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	increases expression, increases response to substance, increases reaction	1
daidzein	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
lead acetate	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
daidzin	affects cotreatment, decreases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
genistin	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
glycitein	affects cotreatment, decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
glycitin	affects cotreatment, decreases expression	1
abrine	decreases expression	1
gardiquimod	increases expression, decreases reaction	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
Zoledronic Acid	increases expression	1
Norethindrone Acetate	increases expression, affects cotreatment	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Cadmium	affects binding	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1XF	Abcam A-549 LRG1 KO	Cancer cell line	Male
CVCL_D2BP	Abcam HCT 116 LRG1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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