1. Gene
  2. FCN3 - ficolin 3 Gene

FCN3 - ficolin 3 Gene

Homo sapiens

Also known as FCNH; HAKA1

Gene ID: 8547 | Gene type: protein coding

About FCN3

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:27,369,110-27,374,824 (from NCBI)

This gene has 6 transcripts (splice variants), 52 orthologues, 25 paralogues and is associated with 2 phenotypes. Biased expression in lung (RPKM 93.2), liver (RPKM 47.7) and 3 other tissues.

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-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]

FCN3 Products(2)

mRNA Protein Name
NM_003665.4 NP_003656.2 ficolin-3 isoform 1 precursor
NM_173452.3 NP_775628.1 ficolin-3 isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables antigen binding IDA
IDA: Inferred from direct assay
22851708 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
19109177 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11907111 GOA
Biological Process GO Annotation Evidence Reference Source
involved in complement activation IDA
IDA: Inferred from direct assay
22851708 GOA
involved in complement activation, lectin pathway IDA
IDA: Inferred from direct assay
11907111 GOA
involved in defense response to virus IDA
IDA: Inferred from direct assay
22851708 GOA
involved in negative regulation of RNA biosynthetic process IDA
IDA: Inferred from direct assay
22851708 GOA
involved in negative regulation of viral entry into host cell IMP
IMP: Inferred from mutant phenotype
22851708 GOA
involved in positive regulation of opsonization IDA
IDA: Inferred from direct assay
11907111 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
11907111 GOA
involved in recognition of apoptotic cell IDA
IDA: Inferred from direct assay
15804047 GOA
Cellular Component GO Annotation Evidence Reference Source
part of serine-type endopeptidase complex IDA
IDA: Inferred from direct assay
11907111 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FCN3 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (47 - 79)

Fibrinogen_C

Fibrinogen_C: Fibrinogen beta and gamma chains, C-terminal globular domain (90 - 299)

  • 0
  • 100
  • 200
  • 299 a.a.
Protein Preferred Names Protein Names

ficolin-3

H-ficolin

FCN3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FCN3 O75636 MASP1 Homo sapiens P48740-2
GMS
23785123
Intra
FCN3 O75636 MASP1 Homo sapiens P48740-3
GMS
23785123
Intra
FCN3 O75636 FCN2 Homo sapiens Q15485 32094208
Cross
FCN3 O75636 fbpB Mycobacterium tuberculosis P9WQP1 27141819
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ficolin 3 Deficiency

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

Rheumatic Heart Disease

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

Acute Rheumatic Fever

Rhf - Rheumatic Fever

Inflammatory 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

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus

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]

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

3mc Syndrome 2

3MC2

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Carnevale Syndrome

Carnevale Syndrome, Formerly

Carnevale Krajewska Fischetto Syndrome

3mc Syndrome, Type 2

3mc Syndrome 1

Oculopalatoskeletal Syndrome

3MC1

Craniosynostosis With Lid Anomalies

Michels Syndrome, Formerly

Michels Syndrome

3mc Syndrome, Type 1

Pulmonary Aspergilloma
Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4

AGM4

Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

B Cell Linker Protein Deficiency

B-Cell Linker Protein Deficiency

Blnk Deficiency

Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

Agammaglobulinemia, Type 4, Autosomal Recessive

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta FCN3 VGNC VGNC:72630
Rattus norvegicus FCN3 RGD RGD:621221