FGL2

Summary

FGL2 (fibrinogen like 2, HGNC:3696) is a protein-coding gene on chromosome 7q11.23, encoding Fibroleukin (Q14314). May play a role in physiologic lymphocyte functions at mucosal sites.

The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites.

Source: NCBI Gene 10875 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autoinflammatory syndrome (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_006682

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3696
Approved symbol	FGL2
Name	fibrinogen like 2
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	pT49, T49
Ensembl gene	ENSG00000127951
Ensembl biotype	protein_coding
OMIM	605351
Entrez	10875

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000248598, ENST00000637771

RefSeq mRNA: 1 — MANE Select: NM_006682 NM_006682

CCDS: CCDS5591

Canonical transcript exons

ENST00000248598 — 2 exons

Exon	Start	End
ENSE00000876985	77199181	77199819
ENSE00000876986	77193369	77196985

Expression profiles

Bgee: expression breadth ubiquitous, 275 present calls, max score 99.50.

FANTOM5 (CAGE): breadth broad, TPM avg 32.7495 / max 3501.5414, expressed in 682 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84448	26.8346	652
84449	5.9149	520

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.50	gold quality
mononuclear cell	CL:0000842	99.43	gold quality
leukocyte	CL:0000738	99.38	gold quality
trigeminal ganglion	UBERON:0001675	99.14	gold quality
synovial joint	UBERON:0002217	99.01	gold quality
descending thoracic aorta	UBERON:0002345	99.00	gold quality
jejunal mucosa	UBERON:0000399	98.97	gold quality
skin of hip	UBERON:0001554	98.45	gold quality
dorsal root ganglion	UBERON:0000044	98.43	gold quality
superficial temporal artery	UBERON:0001614	98.39	gold quality
urethra	UBERON:0000057	98.32	gold quality
penis	UBERON:0000989	98.24	gold quality
thoracic aorta	UBERON:0001515	98.16	gold quality
ascending aorta	UBERON:0001496	98.08	gold quality
granulocyte	CL:0000094	98.03	gold quality
upper leg skin	UBERON:0004262	97.60	gold quality
mucosa of stomach	UBERON:0001199	97.39	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.19	gold quality
vena cava	UBERON:0004087	96.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.67	gold quality
saphenous vein	UBERON:0007318	96.64	gold quality
lower esophagus	UBERON:0013473	96.55	gold quality
rectum	UBERON:0001052	96.46	gold quality
trabecular bone tissue	UBERON:0002483	96.42	gold quality
jejunum	UBERON:0002115	96.39	gold quality
mammalian vulva	UBERON:0000997	96.28	gold quality
caecum	UBERON:0001153	96.00	gold quality
renal medulla	UBERON:0000362	95.71	gold quality
blood	UBERON:0000178	95.59	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-GEOD-150728	yes	1496.51
E-HCAD-15	yes	1034.12
E-MTAB-9801	yes	981.67
E-MTAB-7381	yes	949.61
E-GEOD-149689	yes	821.52
E-CURD-122	yes	69.70
E-HCAD-1	yes	61.04
E-CURD-46	yes	48.84
E-MTAB-10553	yes	43.56
E-MTAB-8410	yes	41.69
E-MTAB-6701	yes	36.57
E-HCAD-10	yes	29.55
E-MTAB-9221	yes	29.41
E-MTAB-6678	yes	26.67
E-MTAB-10287	yes	26.63

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, ETS2, HNF4A, POU2F1, SP1, SP3, SPI1, STAT1

miRNA regulators (miRDB)

205 targeting FGL2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548N	99.98	71.94	4170
HSA-LET-7F-2-3P	99.98	70.98	2588

Literature-anchored findings (GeneRIF, showing 40)

• FGL2 expression may be critical to the pathogenesis of renal allograft rejection; these data provide a rationale for targeting the fgl2 gene in an attempt to modulate allograft rejection. (PMID:15905589)
• Results suggest that virus-induced fibrinogen-like protein 2 prothrombinase/fibroleukin expression and associated coagulation activity play a pivotal role in initiating severe hepatitis. (PMID:16437596)
• fgl2 gene transcription induced by the N protein of SARS-CoV was dependent on transcription factor C/EBP alpha binding with its cognate cis-element in fgl2 promoter. (PMID:18390877)
• Hepatitis B virus-induced hFGL2 transcription is dependent on c-Ets-2 and MAPK signal pathway (PMID:18801734)
• Human fg12 contributes to the hypercoagulability in cancer and may induce tumor angiogenesis and metastasis via cytokine induction. (PMID:18932275)
• SARS-CoV N protein specifically modulates transcription of the FGL2 gene to cause fibrosis and vascular thrombosis. (PMID:19423547)
• FGL2 plays an important role in macrophage activation in the lungs of COPD patients through MAPK pathway modulation. (PMID:20438701)
• HBV surface antigen-induced transcription of hfgl2 prothrombinase gene. (PMID:22082274)
• The proliferation index of CD8(+)T cells after blocking FGL2 was higher. (PMID:22886967)
• FGL2 contributes to hepatocellular carcinoma tumour growth and angiogenesis in a thrombin-dependent manner, and downregulation of its expression might be of therapeutic significance in HCC. (PMID:22925132)
• Circulating fibrinogen-like protein 2 is increased in patients with systemic sclerosis. (PMID:22983266)
• Serum fgl2 levels were increased among renal allograft recipients with acute rejection episodes to an extent dependent upon the pathological type and severity of the response. (PMID:23195010)
• immunomodulatory activity of FGL2 may be involved in the immunopathogenesis of inflammatory bowel disease (PMID:24287641)
• The selected peptide sequence NPG-12 may be a critical domain for hfgl2 prothrombinase activity. (PMID:24728278)
• Studied fibrinogen-like protein 2 expression and its role in CRC metastasis and underlying molecular mechanisms; results suggest that FGL2 plays an important oncogenic role in CRC aggressiveness by inducing EMT. (PMID:25129313)
• FGL-2 prothrombinase activity in PBMC of lymphoma patients is increased in active disease and normalizes during remission, thus being a potential marker for follow up of lymphoma patients. (PMID:25303152)
• these results suggest that FGL-2 mediates angiogenesis and tumorigenesis not by thrombin-mediated mechanism but rather through FGF-2/ERK signaling pathway. (PMID:25496996)
• Results show that FGL2 functions as a key immune-suppressive modulator and has potential as an immunotherapeutic target for treating glioblastoma multiforme (GBM). (PMID:25971300)
• Data suggest that fibrinogen-like protein 2 (hFGL2) gene silencing via miRNA may be an alternative strategy for the management of hepatocellular carcinoma (HCC). (PMID:27163335)
• Report increased expression of FGL-2 in peripheral blood mononuclear cells from mycosis fungoides patients. (PMID:27535237)
• Our results identified FGL2, GAL, SEMA4D, SEMA7A, and IDO1 as new candidate genes that could be involved in MSCs-mediated immunomodulation. FGL2, GAL, SEMA4D, SEMA7A, and IDO1 genes appeared to be differentially transcribed in the different MSC populations. Moreover, these genes were not similarly modulated following MSCs-exposure to inflammatory signals (PMID:28336906)
• serum levels of soluble FAS ligand (sFASL) and interferon gamma (IFN-gamma) were analyzed and correlated with sFGL2 levels in Hepatitis C Virus-Infected Patients and Hepatocellular Carcinoma Patients. (PMID:28609212)
• FGL2 expression is a novel, independent, and an adverse prognostic factor of clinical outcomes in patients with clear cell renal cell carcinoma. (PMID:28978925)
• The increase in intrahepatic and plasma sFGL2 by Tregs may restrict AIH progression by inhibiting conventional CD8+ T cells and Tc17 cell function. The high correlation between sFGL2 and disease severity may predict AIH outcome. (PMID:29756667)
• High FGL2 expression is associated with glioma. (PMID:29947810)
• Serum FGL2 is a promising biomarker for assessing the severity and prognosis in severe TBI (PMID:30503273)
• FGL2 promotes tumor progression in the brain by suppressing CD103-expressing dendritic cell differentiation. (PMID:30683885)
• Elevation of serum sFGL2 concentrations is strongly associated with the acute pancreatitis severity and has the potential to distinguish delirium after acute pancreatitis. (PMID:30884164)
• The presence of infectious/autoimmune diseases does not significantly alter FGL2 activity in the peripheral blood (PMID:30916506)
• The FGL2 prothrombinase contributes to the pathological process of experimental pulmonary hypertension. (PMID:31580221)
• Data show that RvDp5 enhances fibrinogen-like protein 2 (Fgl2) secretion via ADAM metallopeptidase domain 17 (ADAM17) and synergistically accelerates resolution of inflammation. (PMID:31763448)
• Blood-stage malaria parasites manipulate host innate immune responses through the induction of sFGL2. (PMID:32133407)
• Soluble Fibrinogen-like protein 2 plays a role in varicocele induced male infertility. (PMID:32350910)
• Predictive value of soluble fibrinogen-like protein 2 for survival in traumatic patients with sepsis. (PMID:32679128)
• Soluble fibrinogen-like protein 2 in condyloma acuminatum lesions. (PMID:32683349)
• Fibrinogen-Like Protein 2 (FGL2) is a Novel Biomarker for Clinical Prediction of Human Breast Cancer. (PMID:32716910)
• Identification of integrative molecular and clinical profiles of Fibrinogen-like protein 2 in gliomas using 1323 samples. (PMID:32858440)
• Fibrinogen-like protein 2 aggravates nonalcoholic steatohepatitis via interaction with TLR4, eliciting inflammation in macrophages and inducing hepatic lipid metabolism disorder. (PMID:32863955)
• Tumor-associated macrophage polarization promotes the progression of esophageal carcinoma. (PMID:33323552)
• Dabigatran activates inflammation resolution by promoting fibrinogen-like protein 2 shedding and RvD5n-3 DPA production. (PMID:33754059)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fgl2b	ENSDARG00000019686
danio_rerio	fgl2a	ENSDARG00000019861
mus_musculus	Fgl2	ENSMUSG00000039899
rattus_norvegicus	Fgl2	ENSRNOG00000012881

Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), 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

Fibroleukin — Q14314 (reviewed: Q14314)

Alternative names: Fibrinogen-like protein 2, pT49

All UniProt accessions (2): Q14314, A4D1B8

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in physiologic lymphocyte functions at mucosal sites.

Subunit / interactions. Homotetramer; disulfide-linked.

Subcellular location. Secreted.

Tissue specificity. Constitutively expressed in cytotoxic T-cells.

RefSeq proteins (1): NP_006673* (*=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
IPR050373	Fibrinogen_C-term_domain	Family

Pfam: PF00147

UniProt features (13 total): glycosylation site 5, disulfide bond 2, signal peptide 1, chain 1, sequence variant 1, domain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14314-F1	79.48	0.47

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 (2): 213–242, 371–384

Glycosylation sites (5): 25, 179, 235, 263, 336

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 482 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GSE45365_NK_CELL_VS_BCELL_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, LU_IL4_SIGNALING, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOCC_SECRETORY_GRANULE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, MODULE_45, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR

GO Biological Process (5): T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291), negative regulation of dendritic cell antigen processing and presentation (GO:0002605), negative regulation of macrophage antigen processing and presentation (GO:0002617), negative regulation of memory T cell differentiation (GO:0043381), negative regulation of defense response to virus (GO:0050687)

GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), fibrinogen complex (GO:0005577), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of antigen processing and presentation	2
T cell activation involved in immune response	1
dendritic cell antigen processing and presentation	1
regulation of dendritic cell antigen processing and presentation	1
macrophage antigen processing and presentation	1
regulation of macrophage antigen processing and presentation	1
negative regulation of immune effector process	1
memory T cell differentiation	1
regulation of memory T cell differentiation	1
negative regulation of T cell differentiation	1
negative regulation of immune response	1
negative regulation of response to biotic stimulus	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of defense response to virus	1
defense response to virus	1
structural molecule activity	1
extracellular matrix	1
binding	1
cellular anatomical structure	1
extracellular protein-containing complex	1
external encapsulating structure	1
extracellular vesicle	1
intracellular organelle lumen	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

1864 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGL2	FCGR2B	P31994	865
FGL2	IRF1	P10914	520
FGL2	CST7	O76096	491
FGL2	FCGR3B	O75015	486
FGL2	FCGR3A	P08637	484
FGL2	STAT3	P40763	473
FGL2	PDCD1LG2	Q9BQ51	469
FGL2	TIGIT	Q495A1	447
FGL2	F2	P00734	440
FGL2	FOXP3	Q9BZS1	439
FGL2	STAT1	P42224	431
FGL2	JUN	P05412	426
FGL2	LAG3	P18627	419
FGL2	SPECC1	Q5M775	415
FGL2	ENTPD1	P49961	405

IntAct

13 interactions, top by confidence:

A	B	Type	Score
FGL2	PCNT	psi-mi:“MI:0914”(association)	0.530
POP7	RPP40	psi-mi:“MI:0914”(association)	0.530
FGL2	ITPR3	psi-mi:“MI:0914”(association)	0.530
FGL2	CFTR	psi-mi:“MI:0915”(physical association)	0.510
CFTR	FGL2	psi-mi:“MI:0915”(physical association)	0.510
GPX1	FGL2	psi-mi:“MI:0915”(physical association)	0.400
FMR1	FGL2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): GNPDA1 (Affinity Capture-MS), PCNT (Affinity Capture-MS), MTFR1 (Affinity Capture-MS), CDK5RAP2 (Affinity Capture-MS), SPATA2 (Affinity Capture-MS), ITPR3 (Affinity Capture-MS), KIF7 (Affinity Capture-MS), CYLD (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), FUT8 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), ZNF282 (Affinity Capture-MS), SPATA2 (Affinity Capture-MS), CYLD (Affinity Capture-MS), KIF7 (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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

253 predictions. Top by Δscore:

Variant	Effect	Δscore
7:77196986:C:CC	acceptor_gain	1.0000
7:77196602:CAACG:C	acceptor_gain	0.9800
7:77199176:CATA:C	donor_loss	0.9800
7:77199177:ATACC:A	donor_loss	0.9800
7:77199178:TACC:T	donor_loss	0.9800
7:77196982:TGAA:T	acceptor_gain	0.9500
7:77196606:G:C	acceptor_gain	0.9400
7:77199179:A:AC	donor_gain	0.9200
7:77199180:C:CC	donor_gain	0.9200
7:77196981:TTGAA:T	acceptor_gain	0.9100
7:77196984:AAC:A	acceptor_loss	0.9100
7:77196985:ACTGA:A	acceptor_loss	0.9100
7:77196987:T:G	acceptor_loss	0.9100
7:77198300:TTCA:T	donor_gain	0.9100
7:77196983:GAA:G	acceptor_gain	0.8800
7:77196984:AA:A	acceptor_gain	0.8600
7:77195130:G:GG	donor_gain	0.8300
7:77196997:A:AC	acceptor_gain	0.8000
7:77196997:A:C	acceptor_gain	0.8000
7:77199180:CCT:C	donor_gain	0.8000
7:77195129:T:G	donor_gain	0.7900
7:77198311:G:C	donor_gain	0.7900
7:77195046:A:AG	acceptor_gain	0.7800
7:77195047:G:GG	acceptor_gain	0.7800
7:77196988:G:C	acceptor_loss	0.7700
7:77199180:CCTGG:C	donor_gain	0.7700
7:77198349:T:A	donor_gain	0.7600
7:77195075:C:CG	acceptor_gain	0.7500
7:77195069:G:GA	acceptor_gain	0.7400
7:77199179:AC:A	donor_gain	0.7200

AlphaMissense

2927 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:77196461:A:G	W380R	0.999
7:77196461:A:T	W380R	0.999
7:77196378:C:A	W407C	0.998
7:77196378:C:G	W407C	0.998
7:77196459:C:A	W380C	0.998
7:77196459:C:G	W380C	0.998
7:77196380:A:G	W407R	0.997
7:77196380:A:T	W407R	0.997
7:77196464:A:G	W379R	0.997
7:77196464:A:T	W379R	0.997
7:77196486:A:C	C371W	0.997
7:77196487:C:A	C371F	0.997
7:77196487:C:G	C371S	0.997
7:77196487:C:T	C371Y	0.997
7:77196488:A:T	C371S	0.997
7:77196700:A:G	L300P	0.996
7:77196795:C:A	W268C	0.996
7:77196795:C:G	W268C	0.996
7:77196848:A:G	W251R	0.996
7:77196848:A:T	W251R	0.996
7:77196447:A:C	C384W	0.995
7:77196456:A:C	F381L	0.995
7:77196456:A:T	F381L	0.995
7:77196458:A:G	F381L	0.995
7:77196617:A:C	Y328D	0.995
7:77196688:A:G	L304P	0.995
7:77196752:A:G	W283R	0.995
7:77196752:A:T	W283R	0.995
7:77196774:A:C	F275L	0.995
7:77196774:A:T	F275L	0.995

dbSNP variants (sampled 300 via entrez): RS1000548755 (7:77197579 G>T), RS1001511048 (7:77198894 C>A,T), RS1001543507 (7:77199281 A>C), RS1001578494 (7:77193714 A>G), RS1001924611 (7:77193419 G>A), RS1002363678 (7:77193160 A>C), RS1002510632 (7:77200619 T>C), RS1002805227 (7:77193671 A>G), RS1002960459 (7:77195474 A>G), RS1003076216 (7:77192939 AAAT>A), RS1003767350 (7:77194986 A>G), RS1004566445 (7:77200891 G>A), RS1004882381 (7:77201267 C>T), RS1004898154 (7:77193269 T>C), RS1004996529 (7:77193697 T>C)

Disease associations

OMIM: gene MIM:605351 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autoinflammatory syndrome	Moderate	Autosomal recessive

Mondo (1): autoinflammatory syndrome (MONDO:0019751)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007216_9	Crohn’s disease	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
nickel sulfate	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Estradiol	increases expression, affects cotreatment	2
Nickel	decreases expression, increases expression	2
GSK-J4	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	increases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases methylation	1
Asbestos	affects expression	1
Benzoates	decreases expression	1
Cycloheximide	decreases expression, decreases reaction	1
Dinitrochlorobenzene	decreases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Oxazolone	decreases expression	1
Progesterone	affects cotreatment, increases expression	1
Quercetin	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D6C9	HyCyte OCI-AML3 KO-hFGL2	Cancer cell line	Male
CVCL_D6CV	HyCyte U-87MG KO-hFGL2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00442182	PHASE2	UNKNOWN	The Efficacy and Safety of ITF2357 in AIS
NCT00887939	Not specified	COMPLETED	Pathogenesis of Physical Induced Urticarial Syndromes
NCT03510442	Not specified	RECRUITING	Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still’s Disease, and Related Conditions
NCT06248957	Not specified	RECRUITING	SYSTEMS-LEVEL ANALYSES OF IMMUNE DYSREGULATION