FCN3 (ficolin 3)

Gene

• Entrez ID: 8547
• Gene name: Ficolin 3
• Gene symbol: FCN3
• Synonyms (NCBI Gene): FCNH, HAKA1
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglyc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT994064	hsa-miR-185	CLIP-seq
MIRT994065	hsa-miR-4306	CLIP-seq
MIRT994066	hsa-miR-4644	CLIP-seq
MIRT994067	hsa-miR-4700-3p	CLIP-seq
MIRT994068	hsa-miR-4718	CLIP-seq
MIRT994069	hsa-miR-4768-3p	CLIP-seq
MIRT994070	hsa-miR-892b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001867	Process	Complement activation, lectin pathway	IBA
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047, 22691502, 23386610
GO:0001867	Process	Complement activation, lectin pathway	IDA	11907111, 26133042
GO:0001867	Process	Complement activation, lectin pathway	IEA
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0002752	Process	Cell surface pattern recognition receptor signaling pathway	NAS	17215869
GO:0003823	Function	Antigen binding	IBA
GO:0003823	Function	Antigen binding	IDA	22851708
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	11907111, 19939495, 21035894, 22854970, 23460739, 23785123, 27141819, 32094208
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	11907111
GO:0006508	Process	Proteolysis	IDA	11907111
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IDA	22851708
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0009897	Component	External side of plasma membrane	NAS	11907111
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030246	Function	Carbohydrate binding	TAS	9694814
GO:0031012	Component	Extracellular matrix	IBA
GO:0031638	Process	Zymogen activation	IDA	22691502, 23386610
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0038187	Function	Pattern recognition receptor activity	IDA	9694814
GO:0042802	Function	Identical protein binding	IPI	19109177
GO:0043654	Process	Recognition of apoptotic cell	IDA	15804047
GO:0045087	Process	Innate immune response	IEA
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IMP	22851708
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047, 22691502
GO:0051607	Process	Defense response to virus	IDA	22851708
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0097367	Function	Carbohydrate derivative binding	IBA
GO:0097367	Function	Carbohydrate derivative binding	IDA	9694814
GO:0106139	Component	Symbiont cell surface	IDA	26133042
GO:1902679	Process	Negative regulation of RNA biosynthetic process	IDA	22851708
GO:1903028	Process	Positive regulation of opsonization	IDA	11907111
GO:1905370	Component	Serine-type endopeptidase complex	IDA	11907111

Other IDs

• MIM: 604973
• HGNC: 3625
• e!Ensembl: ENSG00000142748

Protein

• UniProt ID: O75636
• Protein name: Ficolin-3 (Collagen/fibrinogen domain-containing lectin 3 p35) (Collagen/fibrinogen domain-containing protein 3) (Hakata antigen)
• Protein function: May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and
• PDB: 2J5Z, 2J60, 2J64
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00147	Fibrinogen_C	89 → 299	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver and lung. In liver it is produced by bile duct epithelial cells and hepatocytes. In lung it is produced by both ciliated bronchial epithelial cells and type II alveolar epithelial cells. {ECO:0000269|PubMed:10330454}.
• Sequence:

  MDLLWILPSLWLLLLGGPACLKTQEHPSCPGPRELEASKVVLLPSCPGAPGSPGEKGAPG
  PQGPPGPPGKMGPKGEPGDPVNLLRCQEGPRNCRELLSQGATLSGWYHLCLPEGRALPVF
  CDMDTEGGGWLVFQRRQDGSVDFFRSWSSYRAGFGNQESEFWLGNENLHQLTLQGNWELR
  VELEDFNGNRTFAHYATFRLLGEVDHYQLALGKFSEGTAGDSLSLHSGRPFTTYDADHDS
  SNSNCAVIVHGAWWYASCYRSNLNGRYAVSEAAAHKYGIDWASGRGVGHPYRRVRMMLR

• Sequence length: 299

Pathways

Reactome:

Lectin pathway of complement activation
Initial triggering of complement
Ficolins bind to repetitive carbohydrate structures on the target cell surface

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FCN3-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency due to ficolin3 deficiency	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatic heart disease	risk factor; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29933890		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	19535802		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	28039962	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28039962		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32820945	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36263058	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33878734	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17006932, 33878734, 37484802	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35402624, 36632465	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33717076	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39390580	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23744477		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36863704	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35126952, 38006610	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	25662573		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27312152, 30814659		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	17303612		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18795103, 22471352	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29491225, 30949171		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	22471352		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	22471352	Associate	★☆☆☆☆ Found in Text Mining only
FICOLIN 3 DEFICIENCY	FICOLIN 3 DEFICIENCY	BEFREE	19535802, 31044336		★☆☆☆☆ Found in Text Mining only
FICOLIN 3 DEFICIENCY	FICOLIN 3 DEFICIENCY	ORPHANET_DG	19535802		★☆☆☆☆ Found in Text Mining only
FICOLIN 3 DEFICIENCY	FICOLIN 3 DEFICIENCY	GENOMICS_ENGLAND_DG	25662573		★☆☆☆☆ Found in Text Mining only
FICOLIN 3 DEFICIENCY	FICOLIN 3 DEFICIENCY	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FICOLIN 3 DEFICIENCY	FICOLIN 3 DEFICIENCY	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	38219652	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22471352	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22471352		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to ficolin3 deficiency	Immunodeficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	19535802		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	28241035		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28241035	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	28241035	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17006932, 29386009, 30747617, 30798068		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30747617		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28432700		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	39390580	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38219652	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31044336		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	27981461, 29045037		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	32047495	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23744477		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23744477, 30846332		★☆☆☆☆ Found in Text Mining only
MASP2 Deficiency	MASP2 Deficiency	BEFREE	28109038		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22848725, 28216633		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23744477		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23744477	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26133042	Stimulate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33591573	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	33499929	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	33499929, 40340734	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis	Scoliosis	Pubtator	21647955	Inhibit	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	20528471	Inhibit	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29675579		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28432700		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	33878734	Inhibit	★☆☆☆☆ Found in Text Mining only