FGL1

Summary

FGL1 (fibrinogen like 1, HGNC:3695) is a protein-coding gene on chromosome 8p22, encoding Fibrinogen-like protein 1 (Q08830). Immune suppressive molecule that inhibits antigen-specific T-cell activation by acting as a ligand of LAG3.

Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene.

Source: NCBI Gene 2267 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 100 total
• MANE Select transcript: NM_004467

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3695
Approved symbol	FGL1
Name	fibrinogen like 1
Location	8p22
Locus type	gene with protein product
Status	Approved
Aliases	HFREP-1, HPS
Ensembl gene	ENSG00000104760
Ensembl biotype	protein_coding
OMIM	605776
Entrez	2267

Gene structure

Transcript identifiers

Ensembl transcripts: 55 — 51 protein_coding, 4 retained_intron

ENST00000381840, ENST00000381841, ENST00000398054, ENST00000398056, ENST00000427924, ENST00000518650, ENST00000518769, ENST00000519055, ENST00000522444, ENST00000522636, ENST00000523097, ENST00000904467, ENST00000904468, ENST00000904469, ENST00000904470, ENST00000904471, ENST00000904472, ENST00000904473, ENST00000904474, ENST00000904475, ENST00000904476, ENST00000904477, ENST00000904478, ENST00000904479, ENST00000904480, ENST00000904481, ENST00000904482, ENST00000904483, ENST00000904484, ENST00000904485, ENST00000904486, ENST00000904487, ENST00000904488, ENST00000904489, ENST00000904490, ENST00000904491, ENST00000904492, ENST00000904493, ENST00000904494, ENST00000904495, ENST00000904496, ENST00000904497, ENST00000904498, ENST00000904499, ENST00000904500, ENST00000904501, ENST00000904502, ENST00000904503, ENST00000904504, ENST00000904505, ENST00000904506, ENST00000904507, ENST00000966626, ENST00000966627, ENST00000966628

RefSeq mRNA: 4 — MANE Select: NM_004467 NM_004467, NM_147203, NM_201552, NM_201553

CCDS: CCDS6004

Canonical transcript exons

ENST00000427924 — 8 exons

Exon	Start	End
ENSE00003493652	17868916	17869004
ENSE00003646469	17868548	17868735
ENSE00003692197	17874362	17874521
ENSE00003693695	17874019	17874116
ENSE00003849735	17895447	17895524
ENSE00003889023	17885492	17885571
ENSE00003890785	17881999	17882179
ENSE00003896139	17864389	17864751

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 99.67.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 15.2602 / max 7674.9526, expressed in 97 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92043	13.8793	38
92041	0.6742	16
92042	0.3833	11
92045	0.1788	7
92046	0.1403	59
92044	0.0043	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.67	gold quality
liver	UBERON:0002107	99.44	gold quality
body of pancreas	UBERON:0001150	99.05	gold quality
pancreas	UBERON:0001264	94.77	gold quality
sperm	CL:0000019	90.86	gold quality
islet of Langerhans	UBERON:0000006	89.52	gold quality
male germ cell	CL:0000015	88.85	gold quality
buccal mucosa cell	CL:0002336	85.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.17	gold quality
epithelial cell of pancreas	CL:0000083	80.15	silver quality
tongue squamous epithelium	UBERON:0006919	77.96	gold quality
endometrium	UBERON:0001295	76.70	gold quality
cervix squamous epithelium	UBERON:0006922	75.45	gold quality
type B pancreatic cell	CL:0000169	74.38	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	73.51	gold quality
triceps brachii	UBERON:0001509	71.34	gold quality
gluteal muscle	UBERON:0002000	71.26	gold quality
pancreatic ductal cell	CL:0002079	69.82	silver quality
placenta	UBERON:0001987	69.77	gold quality
left testis	UBERON:0004533	69.03	gold quality
hair follicle	UBERON:0002073	68.92	gold quality
right testis	UBERON:0004534	68.71	gold quality
diaphragm	UBERON:0001103	67.96	gold quality
testis	UBERON:0000473	67.83	gold quality
cervix epithelium	UBERON:0004801	67.24	gold quality
squamous epithelium	UBERON:0006914	67.14	gold quality
olfactory bulb	UBERON:0002264	67.09	gold quality
uterus	UBERON:0000995	66.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	66.33	gold quality
nasal cavity epithelium	UBERON:0005384	66.17	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	3680.00
E-MTAB-10137	yes	2450.25
E-MTAB-6653	yes	939.69
E-MTAB-10553	yes	31.67
E-GEOD-81547	yes	19.32
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXA2, HMGA1, HNF1A, STAT3

miRNA regulators (miRDB)

18 targeting FGL1, 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-607	99.97	73.62	5593
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-496	98.66	69.80	931
HSA-MIR-4718	98.55	68.61	814
HSA-MIR-4709-5P	98.51	67.25	1335
HSA-MIR-219B-3P	97.31	66.96	672
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-490-5P	96.75	65.81	661
HSA-MIR-4791	96.51	67.76	659

Literature-anchored findings (GeneRIF, showing 31)

• data demonstrated that liver-specific gene LFIRE-1/HFREP-1 was frequently downregulated and might possess growth suppressor activity in HCC (PMID:14981537)
• HFREP-1 in plasma almost completely bound to the fibrin matrix during clot formation (PMID:16996032)
• The enhancement of FGL1 levels in vitro by IL-6 and its induction after turpentine oil injection suggest that it is an acute phase reactant. (PMID:18039467)
• HNF1 binding site and HNF1alpha are critical to liver-specific expression of HPS, and down-regulation or loss of HNF1alpha causes, at least in part, the transcriptional down-regulation of HPS in HCC. (PMID:19304666)
• Findings suggest that hepassocin promotes hepatic cell line L02 cells proliferation via an autocrine mechanism and inhibits HCC cells proliferation by an intracrine pathway. (PMID:21618590)
• Hepassocin plays an important role in non-alcoholic fatty liver disease and induces hepatic lipid accumulation through an ERK1/2-dependent pathway. (PMID:23792031)
• Here, the application of small ubiquitin-related modifier (SUMO) fusion technology in combination with four different chaperone teams on the soluble expression of recombinant HPS protein was explored and analyzed. (PMID:24084006)
• findings highlight the crucial role of HFREP1 in insulin resistance and diabetes, and provide a potential strategy and biomarker for developing therapeutic approaches to combat these diseases. (PMID:27221093)
• Endoplasmic reticulum stress induced by palmitate could increase the expression of HPS in hepatocytes and further contribute to the development of insulin resistance in skeletal muscle. (PMID:29111387)
• FGL1 promotes invasion and metastasis of gastric cancer and is associated with poor prognosis. (PMID:29845203)
• HPS may facilitate increased hepatic lipid accumulation with NAFLD and type 2 diabetes. (PMID:30009716)
• Results demonstrated that loss of FGL1 induced epithelialmesenchymal transition (EMT) and angiogenesis in LKB1 mutant lung adenocarcinoma. FGL1 may be a novel biomarker to indicate EMT and angiogenesis in patients with LKB1 mutant lung adenocarcinoma. (PMID:31322182)
• Discovery of a role of the novel hepatokine, hepassocin, in obesity. (PMID:31587376)
• Targeting fibrinogen-like protein 1 is a novel therapeutic strategy to combat obesity. (PMID:31908014)
• Role of placental fibrinogen-like protein 1 in gestational diabetes. (PMID:32006524)
• FGL1 regulates acquired resistance to Gefitinib by inhibiting apoptosis in non-small cell lung cancer. (PMID:32778129)
• Fibrinogen-Like Protein 1 Is a Novel Biomarker for Predicting Disease Activity and Prognosis of Rheumatoid Arthritis. (PMID:33123164)
• Circulating hepassocin level in patients with stable angina is associated with fatty liver and renal function. (PMID:33390768)
• Eicosapentaenoic Acid Inhibits KRAS Mutant Pancreatic Cancer Cell Growth by Suppressing Hepassocin Expression and STAT3 Phosphorylation. (PMID:33801246)
• FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer. (PMID:33876560)
• Involvement of LH3 and GLT25D1 for glucosyl-galactosyl-hydroxylation on non-collagen-like domain of FGL1. (PMID:33984770)
• Fibrinogen-Like Protein 1 Modulates Sorafenib Resistance in Human Hepatocellular Carcinoma Cells. (PMID:34069373)
• Fibrinogen-like protein 1 (FGL1): the next immune checkpoint target. (PMID:34526102)
• Proteomics identifies a novel role of fibrinogen-like protein 1 in Crohn’s disease. (PMID:34629811)
• Engineered Small Extracellular Vesicles as a FGL1/PD-L1 Dual-Targeting Delivery System for Alleviating Immune Rejection. (PMID:34738731)
• Serum fibrinogen-like protein 1 as a novel biomarker in polycystic ovary syndrome: a case-control study. (PMID:35790683)
• Dual immunological and proliferative regulation of immune checkpoint FGL1 in lung adenocarcinoma: The pivotal role of the YY1-FGL1-MYH9 axis. (PMID:36268014)
• Fibrinogen-like protein 1 promotes liver-resident memory T-cell exhaustion in hepatocellular carcinoma. (PMID:36993960)
• Clinical Significance and Prognostic Value of the Expression of LAG-3 and FGL1 in Esophageal Squamous Cell Carcinoma. (PMID:37162630)
• The liver microenvironment orchestrates FGL1-mediated immune escape and progression of metastatic colorectal cancer. (PMID:37872170)
• FGL1: a novel biomarker and target for non-small cell lung cancer, promoting tumor progression and metastasis through KDM4A/STAT3 transcription mechanism. (PMID:39085849)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fgl1	ENSMUSG00000031594
rattus_norvegicus	Fgl1	ENSRNOG00000010714

Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL6 (ENSG00000130812), ANGPTL3 (ENSG00000132855), ANGPTL2 (ENSG00000136859), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), MFAP4 (ENSG00000166482), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGG (ENSG00000171557), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)

Protein

Protein identifiers

Fibrinogen-like protein 1 — Q08830 (reviewed: Q08830)

Alternative names: HP-041, Hepassocin, Hepatocyte-derived fibrinogen-related protein 1, Liver fibrinogen-related protein 1

All UniProt accessions (1): Q08830

UniProt curated annotations — full annotation on UniProt →

Function. Immune suppressive molecule that inhibits antigen-specific T-cell activation by acting as a ligand of LAG3. LAG3-binding initiates a signaling that inhibits the T-cell receptor (TCR) in the immunological synapse, preventing T-cell activation. Binds LAG3 independently from MHC class II (MHC-II). Secreted by, and promotes growth of, hepatocytes.

Subunit / interactions. Homodimer. Interacts (via the Fibrinogen C-terminal domain) with LAG3 (via Ig-like domains 1 and 2).

Subcellular location. Secreted.

Tissue specificity. Under normal conditions, liver-specific.

Induction. Expression is induced by interleukin-6 (IL6). Up-regulated in a number of cancers, such as lung cancer, prostate cancer, melanoma and colorectal cancer.

RefSeq proteins (4): NP_004458, NP_671736, NP_963846, NP_963847 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002181	Fibrinogen_a/b/g_C_dom	Domain
IPR014716	Fibrinogen_a/b/g_C_1	Homologous_superfamily
IPR020837	Fibrinogen_CS	Conserved_site
IPR036056	Fibrinogen-like_C	Homologous_superfamily
IPR037579	FIB_ANG-like	Family

Pfam: PF00147

UniProt features (44 total): strand 14, sequence variant 8, helix 5, binding site 4, disulfide bond 3, mutagenesis site 3, turn 2, signal peptide 1, chain 1, domain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9Q35	X-RAY DIFFRACTION	1.74
7TZ2	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08830-F1	91.18	0.78

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 (4): 240; 242; 244; 246

Disulfide bonds (3): 248–261, 26, 83–112

Mutagenesis-validated functional residues (3):

Position	Phenotype
136	increased binding to lag3; when associated with i-181 and e-220.
181	increased binding to lag3; when associated with e-136 and e-220.
290	increased binding to lag3. increased binding to lag3; when associated with e-136 and i-181.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_GLAND_MORPHOGENESIS, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (7): adaptive immune response (GO:0002250), blood coagulation (GO:0007596), regulation of immune response (GO:0050776), negative regulation of T cell receptor signaling pathway (GO:0050860), negative regulation of T cell activation (GO:0050868), hepatocyte proliferation (GO:0072574), immune system process (GO:0002376)

GO Molecular Function (2): receptor ligand activity (GO:0048018), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), fibrinogen complex (GO:0005577), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	2
hemostasis	1
wound healing	1
coagulation	1
regulation of immune system process	1
regulation of response to stimulus	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
T cell activation	1
regulation of T cell activation	1
negative regulation of lymphocyte activation	1
negative regulation of leukocyte cell-cell adhesion	1
epithelial cell proliferation	1
biological_process	1
signaling receptor binding	1
signal transduction	1
signaling receptor activator activity	1
binding	1
cellular anatomical structure	1
extracellular protein-containing complex	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1128 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGL1	LAG3	P18627	991
FGL1	CLEC4G	Q6UXB4	668
FGL1	CTLA4	P16410	639
FGL1	HAVCR2	Q8TDQ0	629
FGL1	TIGIT	Q495A1	606
FGL1	TNFRSF18	Q9Y5U5	540
FGL1	LGALS9	O00182	522
FGL1	LGALS9B	Q3B8N2	488
FGL1	LGALS9C	Q6DKI2	487
FGL1	LGALS3	P17931	475
FGL1	SIGLEC15	Q6ZMC9	475
FGL1	LECT2	O14960	469
FGL1	GPC3	P51654	465
FGL1	HHLA2	Q9UM44	448
FGL1	TMIGD2	Q96BF3	447
FGL1	CD274	Q9NZQ7	447

IntAct

14 interactions, top by confidence:

A	B	Type	Score
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
LAG3	FGL1	psi-mi:“MI:0915”(physical association)	0.540
LAG3	FGL1	psi-mi:“MI:0407”(direct interaction)	0.540
Lag3	FGL1	psi-mi:“MI:0915”(physical association)	0.400
BCL2L11	FGL1	psi-mi:“MI:0915”(physical association)	0.370
FGL1		psi-mi:“MI:0915”(physical association)	0.370
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350
FGL1	TGM1	psi-mi:“MI:0914”(association)	0.350
SLC25A11	FGL1	psi-mi:“MI:0914”(association)	0.350
TEX264	GSR	psi-mi:“MI:0914”(association)	0.350

BioGRID (191): EPPK1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), ALDH5A1 (Affinity Capture-MS), NAA35 (Affinity Capture-MS), PXDN (Affinity Capture-MS), AARS2 (Affinity Capture-MS), CARKD (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), TBC1D10A (Affinity Capture-MS), PPIL2 (Affinity Capture-MS), MAP1S (Affinity Capture-MS), UBR1 (Affinity Capture-MS), CWF19L2 (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS), COL14A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8J8, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O77802, O95841, P02675, P02676, P02678, P02679, P02680, P04115, P12799, P12804, P14480, P17634, P21758, P30204, P86239, Q02020, Q08830, Q0P4P2, Q14314, Q15389, Q1RMR1, Q29RY7, Q3SZZ7, Q5EA66, Q5M8C6, Q5XK91, Q60FC1, Q640P2, Q6AX44, Q71KU9, Q86XS5, Q8K0E8

Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	2
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1523 predictions. Top by Δscore:

Variant	Effect	Δscore
8:17864749:CAC:C	acceptor_gain	1.0000
8:17864751:CCTAG:C	acceptor_gain	1.0000
8:17874012:ACCTT:A	donor_loss	1.0000
8:17874013:CCTTA:C	donor_loss	1.0000
8:17874014:CTTA:C	donor_loss	1.0000
8:17874015:TTAC:T	donor_loss	1.0000
8:17874016:TA:T	donor_loss	1.0000
8:17874017:ACCT:A	donor_loss	1.0000
8:17874018:CCTT:C	donor_loss	1.0000
8:17874113:TCCT:T	acceptor_gain	1.0000
8:17874114:CCTC:C	acceptor_gain	1.0000
8:17874115:CT:C	acceptor_gain	1.0000
8:17874117:C:CC	acceptor_gain	1.0000
8:17881995:TGA:T	donor_loss	1.0000
8:17881997:A:T	donor_loss	1.0000
8:17881998:CCT:C	donor_loss	1.0000
8:17882005:A:AC	donor_gain	1.0000
8:17882005:ACTG:A	donor_gain	1.0000
8:17882006:C:CC	donor_gain	1.0000
8:17882006:CTGC:C	donor_gain	1.0000
8:17882008:G:GA	donor_gain	1.0000
8:17882042:ATCT:A	donor_gain	1.0000
8:17882175:AGCGC:A	acceptor_gain	1.0000
8:17882176:GCGC:G	acceptor_gain	1.0000
8:17882177:CGC:C	acceptor_gain	1.0000
8:17882177:CGCC:C	acceptor_gain	1.0000
8:17882178:GC:G	acceptor_gain	1.0000
8:17882179:CC:C	acceptor_gain	1.0000
8:17882179:CCTGC:C	acceptor_loss	1.0000
8:17882180:C:CC	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000009960 (8:17879857 C>G,T), RS1000085027 (8:17871916 G>A,T), RS1000171537 (8:17873492 G>C), RS1000219416 (8:17896314 G>A), RS1000237583 (8:17868244 C>T), RS1000393779 (8:17871850 G>A,C), RS1000405169 (8:17891077 G>T), RS1000542382 (8:17869326 G>A), RS1000573691 (8:17869101 C>A,T), RS1000647959 (8:17895985 A>C,G), RS1000708972 (8:17887823 A>G), RS1000804841 (8:17872617 C>A,G), RS1000841675 (8:17883937 C>A,G,T), RS1000867137 (8:17871683 C>A,T), RS1000956470 (8:17896259 C>G,T)

Disease associations

OMIM: gene MIM:605776 | 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
GCST003830_32	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	7.000000e-07
GCST006585_1588	Blood protein levels	3.000000e-70

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change 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
Cyclosporine	increases expression, affects expression, decreases expression	4
sodium arsenite	decreases expression, increases methylation	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	2
bisphenol F	affects cotreatment, increases methylation	1
dicrotophos	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
lead acetate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	increases expression	1
cupric chloride	decreases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
pentanal	decreases expression	1
abrine	decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Aldehydes	decreases expression	1
Atrazine	increases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Clozapine	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Gasoline	increases expression, affects cotreatment, increases abundance	1

Clinical trials (associated diseases)

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