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-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially ... See more...

Aliases for FCN3 Gene

Aliases for FCN3 Gene

  • GeneCards Symbol: FCN3 2
  • Ficolin 3 2 3 5
  • HAKA1 2 3 4 5
  • FCNH 2 3 4 5
  • Collagen/Fibrinogen Domain-Containing Lectin 3 P35 3 4
  • Collagen/Fibrinogen Domain-Containing Protein 3 3 4
  • Hakata Antigen 2 4
  • Ficolin-3 3 4
  • Ficolin (Collagen/Fibrinogen Domain-Containing) 3 (Hakata Antigen) 2
  • Ficolin (Collagen/Fibrinogen Domain Containing) 3 (Hakata Antigen) 3
  • Ficolin (Collagen/Fibrinogen Domain Containing) 3 2
  • H-Ficolin 3

External Ids for FCN3 Gene

Previous GeneCards Identifiers for FCN3 Gene

  • GC01P027890
  • GC01M026727
  • GC01M026928
  • GC01M027300
  • GC01M027379
  • GC01M027568
  • GC01M027695
  • GC01M025951
  • GC01M027797
  • GC01M027843
  • GC01M027380
  • GC01M027398
  • GC01M027573
  • GC01M027604
  • GC01M027636
  • GC01M027674
  • GC01M027729

Summaries for FCN3 Gene

Entrez Gene Summary for FCN3 Gene

  • 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-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for FCN3 Gene

FCN3 (Ficolin 3) is a Protein Coding gene. Diseases associated with FCN3 include Ficolin 3 Deficiency and Rheumatic Heart Disease. Among its related pathways are Initial triggering of complement and Innate Immune System. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and antigen binding. An important paralog of this gene is FCN1.

UniProtKB/Swiss-Prot Summary for FCN3 Gene

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 S.minnesota. ( FCN3_HUMAN,O75636 )

Gene Wiki entry for FCN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB Summary , Rfam classification and piRNA Summary for FCN3 Gene

Genomics for FCN3 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Promoters and enhancers for FCN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J027372 Enhancer 0.6 Ensembl 250.70 143.22 +1.9 1 0.2 REST CTCF BHLHE40 RAD21 NRF1 ZBTB33 ZNF384 ZNF362 ZNF143 ZNF24 lnc-CD164L2-1 FCN3 CD164L2 MAP3K6
GH01J027374 Promoter 0.4 EPDnew 250.70 90.88 0.0 0 0.1 GLIS1 lnc-CD164L2-1 FCN3 CD164L2
GH01J027373 Promoter 0.2 Ensembl 250.70 62.67 +0.3 1 0.6 lnc-CD164L2-1 FCN3 MAP3K6
GH01J027377 Enhancer 0.6 Ensembl 0.67 0.42 -3.3 0 0.6 ZIC2 MBD2 TBP ZNF223 TAL1 HDAC2 SMARCA4 TCF12 DPF2 HDAC1 CD164L2 FCN3
GH01J027382 Promoter 0.9 EPDnew Ensembl 0.44 0.41 -8.5 0 1.0 POLR2A HIC1 KLF9 BCL11B NRF1 TAF1 SP1 KLF1 SP3 TBP CD164L2 FCN3

GeneHancers around FCN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FCN3

Top Transcription factor binding sites by QIAGEN in the FCN3 gene promoter:
  • E2F
  • E2F-1
  • Elk-1
  • HOXA5
  • Ik-3
  • NF-kappaB1
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • STAT5A

Genomic Locations for FCN3 Gene

Latest Assembly
chr1:27,369,110-27,374,824
(GRCh38/hg38)
Size:
5,715 bases
Orientation:
Minus strand

Previous Assembly
chr1:27,695,601-27,701,343
(GRCh37/hg19 by Entrez Gene)
Size:
5,743 bases
Orientation:
Minus strand

chr1:27,695,603-27,701,315
(GRCh37/hg19 by Ensembl)
Size:
5,713 bases
Orientation:
Minus strand

Genomic View for FCN3 Gene

Genes around FCN3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Cytogenetic band:
FCN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCN3 Gene
Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCN3 Gene

Proteins for FCN3 Gene

  • Protein details for FCN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75636-FCN3_HUMAN
    Recommended name:
    Ficolin-3
    Protein Accession:
    O75636
    Secondary Accessions:
    • Q6IBJ5
    • Q8WW86

    Protein attributes for FCN3 Gene

    Size:
    299 amino acids
    Molecular mass:
    32903 Da
    Quaternary structure:

    • Homotrimer (PubMed:17215869).
      May form an octadecamer consisting of an elementary trimer unit.
      Does not interact with fibronectin, elastin or zymosan.
      Interacts with MASP1 and MASP2.

    Three dimensional structures from PDB for FCN3 Gene

    O75636
    PDB ID PDBe RCSB-PDB OCA Proteopedia
    2J5Z (3D) (3D) (3D)
    2J60 (3D) (3D) (3D)
    2J64 (3D) (3D) (3D)

    Predicted three dimensional structure from AlphaFold

    O75636

    Alternative splice isoforms for FCN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FCN3 Gene

Post-translational modifications for FCN3 Gene

  • The N-terminus is blocked.
    O75636-FCN3_HUMAN
  • Glycosylation at Asn189
    NX_O75636 (NX_O75636-1)
  • Modification sites at PhosphoSitePlus
    O75636
  • Glycosylation from GlyConnect
  • Glycosylation from GlyGen (O75636) 1 site, 4 N-linked glycans (1 site)

Other Protein References for FCN3 Gene

Antibodies for research

  • Abcam antibodies for FCN3
  • Boster Bio Antibodies for FCN3

No data available for DME Specific Peptides for FCN3 Gene

Domains & Families for FCN3 Gene

Gene Families for FCN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for FCN3 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Fibrinogen, beta/gamma chain, C-terminal globular

Suggested Antigen Peptide Sequences for FCN3 Gene

GenScript: Design optimal peptide antigens:
  • Hakata antigen (FCN3_HUMAN)
  • NL3 (Q6UXM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75636

UniProtKB/Swiss-Prot:

FCN3_HUMAN :
  • Belongs to the ficolin lectin family.
Family:
  • Belongs to the ficolin lectin family.
Genes that share domains with FCN3: view

Function for FCN3 Gene

Molecular function for FCN3 Gene according to UniProtKB/Swiss-Prot

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 S.minnesota. FCN3_HUMAN,O75636

Molecular function for FCN3 Gene according to GENATLAS

Biochemistry:
  • ficolin 3 (collagen/fibrinogen domain-containing),TGF1 binding protein,Hakata antigen,present in the serum as homopolymers,reactin with the serum from patients with systemic lupus erythromatous,expressed in the lung,produced by both ciliated bronchial epithelial cells and Type II alveolar epithelial cells and was secreted into the bronchus and alveolus,also expressed in liver,Hakata antigen is produced by bile duct epithelial cells and hepatocytes and secreted into the bile duct FCN3

Phenotypes From GWAS Catalog for FCN3 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
blood protein measurement 78.1 55.83162 2 2

Gene Ontology (GO) - Molecular Function for FCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 3 5 enables antigen binding IDA 22851708
GO:0005515 3 5 enables protein binding IPI 11907111
GO:0030246 3 5 enables carbohydrate binding IEA, TAS
GO:0046872 3 5 enables metal ion binding IEA
Genes that share ontologies with FCN3: view
Genes that share phenotypes with FCN3: view

Human Phenotype Ontology for FCN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms
HP:0000007 Autosomal recessive inheritance HP:0001526 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive; Autosomal recessive form; Autosomal recessive predisposition
HP:0033165 Necrotizing enterocolitis Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.
HP:0000951 Abnormality of the skin HP:0007580 An abnormality of the skin. Abnormality of the skin; Dermatopathy; Dermopathy; Skin abnormality
HP:0001574 Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia.
HP:0002037 Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine. Inflammation of the large intestine; Inflammatory bowel disease

miRNA products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , NCBI Functional elements , Transcription Factor Targeted Genes and HOMER Transcription for FCN3 Gene

Localization for FCN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCN3 Gene

Secreted. Note=Found in blood plasma, bronchus, alveolus and bile duct.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FCN3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
mitochondrion 2
golgi apparatus 1
lysosome 1
cytosol 1
endosome 1
endoplasmic reticulum 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 3 5 located_in extracellular region TAS, NAS, TAS
GO:0005581 3 5 part_of collagen trimer IEA
GO:0005615 3 5 located_in extracellular space IBA, IC, IC 11907111
GO:0009897 3 5 located_in external side of plasma membrane IC 11907111
GO:0062023 3 5 is_active_in collagen-containing extracellular matrix IBA 21873635
Genes that share ontologies with FCN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FCN3 Gene

Pathways & Interactions for FCN3 Gene

Genes that share pathways with FCN3: view

Pathways by source for FCN3 Gene

1 GeneGo (Thomson Reuters) pathway for FCN3 Gene
  • Immune response Lectin induced complement pathway

Additional Pathway Information for FCN3 Gene

Interacting Proteins for FCN3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for FCN3
Selected Interacting proteins: O75636-FCN3_HUMAN ENSP00000270879 for FCN3 Gene via UniProtKB STRING IID

Symbol External ID(s) Details
FCN2
FN1
MASP1
ACAN
BCAN
C1S
CR1
FCN1
FCN3
HABP2
MASP2
MBL2
NCAN
PTX3
SELE
SELL
SELP
SERPINA3
SERPING1
A2M
ACVR1
ADGRL4
AFM
AFP
AHSG

SIGNOR curated interactions for FCN3 Gene

Activates:

Gene Ontology (GO) - Biological Process for FCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 3 5 involved_in complement activation, lectin pathway IDA, IEA 11907111
GO:0002376 5 immune system process IEA
GO:0002752 3 5 involved_in cell surface pattern recognition receptor signaling pathway IC 17215869
GO:0006508 3 5 involved_in proteolysis IDA 11907111
GO:0006956 3 5 involved_in complement activation IDA 22851708
Genes that share ontologies with FCN3: view

Drugs & Compounds for FCN3 Gene

(2) Drugs for FCN3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc acetate 23 Approved, Investigational 23 Pharma Target
Zinc cation 23 Approved, Experimental, Investigational 23 23 Pharma Target

(1) Inferred Drugs for FCN3 Gene

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Serine 21 Investigational Nutra Weak endogenous glycine receptor agonist

(2) Additional Inferred Compounds for FCN3 Gene

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannan
  • Mannan
  • Mannans
  • Mannoglycan
9036-88-8
polysaccharide
Genes that share compounds with FCN3: view

Transcripts for FCN3 Gene

mRNA/cDNA for FCN3 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

miRNA products for research

Alternative Splicing Database (ASD) splice patterns (SP) for FCN3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for FCN3 Gene

GeneLoc Exon Structure for
FCN3

Expression for FCN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FCN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)
  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for FCN3 Gene

This gene is overexpressed in Lung (x26.4) and Liver (x6.5).

Protein differential expression in normal tissues from HIPED for FCN3 Gene

This gene is overexpressed in Serum (35.7), Plasma (20.6), and Synovial fluid (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FCN3 Gene



Protein tissue co-expression partners for FCN3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FCN3

SOURCE GeneReport for Unigene cluster for FCN3 Gene:

Hs.333383

mRNA Expression by UniProt/SwissProt for FCN3 Gene:

O75636-FCN3_HUMAN
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.

Evidence on tissue expression from TISSUES for FCN3 Gene

  • Liver(4.6)
  • Lung(4.6)
  • Bone marrow(4.3)
  • Blood(2.7)
  • Kidney(2.4)
  • Heart(2.2)
  • Muscle(2)

Bgee gene expression patterns for FCN3 gene:

  • Expressed in right lung, upper lobe of left lung, lower lobe of lung and 101 other tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for FCN3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • respiratory
Regions:
Thorax:
  • bronchus
  • lung
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
Genes that share expression patterns with FCN3: view

Primer products for research

Orthologs for FCN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FCN3 28 29
  • 96.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FCN3 28
  • 77.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 29
  • 44 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Fcna 29
  • 44 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 29
  • 42 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30280 30
  • 44 (a)
CG30281 30
  • 44 (a)
CG5550 30
  • 41 (a)
sca 30
  • 38 (a)
CG41520 29
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T15B7.1 28
  • 44.91 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 29
  • 51 (a)
ManyToMany
-- 29
  • 47 (a)
ManyToMany
-- 29
  • 47 (a)
ManyToMany
-- 29
  • 47 (a)
ManyToMany
-- 29
  • 47 (a)
ManyToMany
-- 29
  • 47 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 46 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 45 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 44 (a)
ManyToMany
-- 29
  • 43 (a)
ManyToMany
-- 29
  • 42 (a)
ManyToMany
-- 29
  • 42 (a)
ManyToMany
-- 29
  • 42 (a)
ManyToMany
-- 29
  • 42 (a)
ManyToMany
-- 29
  • 41 (a)
ManyToMany
-- 29
  • 40 (a)
ManyToMany
-- 29
  • 40 (a)
ManyToMany
-- 29
  • 39 (a)
ManyToMany
-- 29
  • 36 (a)
ManyToMany
-- 29
  • 36 (a)
ManyToMany
Species where no ortholog for FCN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for FCN3 Gene

ENSEMBL:
Gene Tree for FCN3 (if available)
TreeFam:
Gene Tree for FCN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FCN3: view image
Alliance of Genome Resources:
Additional Orthologs for FCN3

Paralogs for FCN3 Gene

(27) SIMAP similar genes for FCN3 Gene using alignment to 3 proteins:

  • FCN3_HUMAN
  • Q5SSB9_HUMAN
  • Q6UXM4_HUMAN
Genes that share paralogs with FCN3: view

Variants for FCN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FCN3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs4494157 5 109

risk factor: Rheumatic Heart Disease

27,370,346(-) G/TNM_003665.4(FCN3):c.658+250C>A
INTRON
1299279

Uncertain Significance: not provided

27,369,372(-) T/CNM_003665.4(FCN3):c.764A>G (p.Tyr255Cys)
MISSENSE
1305261

Uncertain Significance: not provided

27,370,658(-) C/TNM_003665.4(FCN3):c.596G>A (p.Arg199His)
MISSENSE
rs10794501 5 109

Uncertain significance: Rheumatic Heart Disease

27,372,958(-) A/TNM_003665.4(FCN3):c.393+178T>A
INTRON
rs141300199 5 109

Uncertain Significance: not specified; not provided

27,373,964(-) C/TNM_003665.4(FCN3):c.232+1G>A
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FCN3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FCN3 Gene

Variant ID Type Subtype PubMed ID
nsv526051 CNV gain 19592680
nsv516766 CNV loss 19592680
esv1006916 CNV deletion 20482838
nsv4034694 CNV duplication 32461652
nsv3324218 CNV insertion 30661756
nsv1147132 CNV insertion 26484159
SVs/CNVs around FCN3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Variation tolerance for FCN3 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCN3 Gene

Human Gene Mutation Database (HGMD)
FCN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCN3
Leiden Open Variation Database (LOVD)
FCN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCN3 Gene

Disorders for FCN3 Gene

(13) MalaCards diseases for FCN3 Gene - From: OMIM®, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
Ficolin 3 Deficiency 1 6 99 101
  • Immunodeficiency Due To Ficolin 3 Deficiency
  • Immunodeficiency Due To Ficolin3 Deficiency
  • Fcn3 Deficiency
  • Lcapd3
  • Lectin Complement Activation Pathway, Defect In, 3
  • FCN3D
  • Defect In Lectin Complement Activation Pathway, 3
19535802
Rheumatic Heart Disease 1 64 109
  • Rheumatic Carditis
  • Rheumatic Congestive Heart Failure
  • Congestive Rheumatic Heart Failure
  • Rheumatic Heart Failure
  • RHD
  • Rheumatic Fever Inactive Or Quiescent With Heart Disease
  • Rheumatic Fever Inactive Or Quiescent With Carditis
  • Organ Rheumatic Heart Disease
  • Organic Rheumatic Heart Disease
  • Inactive Rheumatic Heart Disease
  • Rheumatic Heart
  • Rheumatic Fever Inactive Or Quiescent With Pancarditis
  • Rhd - [Rheumatic Heart Disease]
  • Rheumatic Cardiac Hypertrophy
  • Rheumatic Fever; Inactive Or Quiescent With Cardiac Hypertrophy
  • Rheumatic Pancarditis
  • Inactive Rhd - [Rheumatic Heart Disease]
  • Rheumatic Nonischaemic Cardiopathy
Rheumatic Fever 1 64
  • Acute Rheumatic Fever
  • Rhf - Rheumatic Fever
  • Inflammatory Rheumatism
  • Acute Rheumatism
  • Active Rheumatic Fever Nos
  • Acute Active Rheumatic Fever
  • Subacute Active Rheumatic Fever
  • Subacute Rheumatic Fever
  • Active Rheumatic Fever With Unspecified Type Of Heart Involvement
  • Acute Rheumatic Heart Disease
  • Active Rheumatic Heart Disease
  • Acute Organic Rhd - [Rheumatic Heart Disease]
  • Acute Rhd - [Rheumatic Heart Disease]
Lupus Erythematosus 1 64
  • Lupus
  • Lupus Vulgaris
  • Lupus Erythematosus, Discoid
  • Lupus Erythematosus, Systemic
  • Subacute Cutaneous Lupus
  • Le - [Lupus Erythematosus]
Systemic Lupus Erythematosus 1 64
  • Lupus Nephritis
  • SLE
  • Disseminated Lupus Erythematosus
  • Systemic Lupus Erythematosus, Susceptibility To
  • Lupus Erythematosus, Systemic
  • Lupus Nephritis, Susceptibility To
  • Libman-Sacks Disease
  • Systemic Lupus Erythematosus Susceptibility To
  • Sle - Lupus Erythematosus, Systemic
  • Le Syndrome
  • Lupus
  • Lupus Erythematosus Systemic
  • Lupus Erythematosus, Systemic, Susceptibility To
  • Lupus Vulgaris
  • Lupus Erythematosus, Discoid
  • Lupus Erythematosus
  • Systemic Lupus Erythematosus Nos
  • Sle - [Systemic Lupus Erythematosus]
- elite association - COSMIC cancer census association via MalaCards
Search FCN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FCN3_HUMAN
  • Ficolin 3 deficiency (FCN3D) [MIM:613860]: A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine. {ECO:0000269 PubMed:19535802}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FCN3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
The Organ-Disease Annotation database of tissue-selective hereditary diseases
(ODiseA)
Genes that share disorders with FCN3: view

No data available for GENATLAS for FCN3 Gene

Publications for FCN3 Gene

  1. Exploring the role of polymorphisms in ficolin genes in respiratory tract infections in children. (PMID: 19220833) Ruskamp JM … Sanders EA (Clinical and experimental immunology 2009) 3 21 39
  2. Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. (PMID: 19535802) Munthe-Fog L … Garred P (The New England journal of medicine 2009) 4 21 69
  3. Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis. (PMID: 18032536) Vander Cruyssen B … De Keyser F (Rheumatology (Oxford, England) 2007) 3 21 39
  4. Structural insights into the innate immune recognition specificities of L- and H-ficolins. (PMID: 17215869) Garlatti V … Gaboriaud C (The EMBO journal 2007) 3 4 21
  5. Activation of the lectin complement pathway by H-ficolin (Hakata antigen). (PMID: 11907111) Matsushita M … Fujita T (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 21

Products for FCN3 Gene

Sources for FCN3 Gene