ENSG00000142748


Homo sapiens

Features
Gene ID: ENSG00000142748
  
Biological name :FCN3
  
Synonyms : FCN3 / ficolin 3 / O75636
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.11
Gene start: 27369112
Gene end: 27374824
  
Corresponding Affymetrix probe sets: 205866_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000270879
Ensembl peptide - ENSP00000347077
NCBI entrez gene - 8547     See in Manteia.
OMIM - 604973
RefSeq - NM_173452
RefSeq - NM_003665
RefSeq Peptide - NP_003656
RefSeq Peptide - NP_775628
swissprot - O75636
swissprot - Q6UXM4
Ensembl - ENSG00000142748
  
Related genetic diseases (OMIM): 613860 - Immunodeficiency due to ficolin 3 deficiency, 613860
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
No match


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FCN2 / Q15485 / ficolin 2ENSG0000016033948
FCN1 / O00602 / ficolin 1ENSG0000008526548
Q8NI99 / ANGPTL6 / angiopoietin like 6ENSG0000013081239
FIBCD1 / Q8N539 / fibrinogen C domain containing 1ENSG0000013072038
Q9UKU9 / ANGPTL2 / angiopoietin like 2ENSG0000013685938
MFAP4 / P55083 / microfibril associated protein 4ENSG0000016648235
O95841 / ANGPTL1 / angiopoietin like 1ENSG0000011619433
FGL2 / Q14314 / fibrinogen like 2ENSG0000012795131
ANGPT1 / Q15389 / angiopoietin 1ENSG0000015418831
ANGPT4 / Q9Y264 / angiopoietin 4ENSG0000010128029
O43827 / ANGPTL7 / angiopoietin like 7ENSG0000017181929
ANGPT2 / O15123 / angiopoietin 2ENSG0000009187929


Protein motifs (from Interpro)
Interpro ID Name
 IPR002181  Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
 IPR014715  Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2
 IPR014716  Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
 IPR020837  Fibrinogen, conserved site
 IPR036056  Fibrinogen-like, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001867 complement activation, lectin pathway TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006956 complement activation IDA
 biological_processGO:0043654 recognition of apoptotic cell IDA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0046597 negative regulation of viral entry into host cell IMP
 biological_processGO:0051607 defense response to virus IDA
 biological_processGO:1902679 negative regulation of RNA biosynthetic process IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0003823 antigen binding IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030246 carbohydrate binding TAS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Lectin pathway of complement activation
Initial triggering of complement
Ficolins bind to repetitive carbohydrate structures on the target cell surface


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002721 Immunodeficiency 
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 HP:0002722 Abscess formation in any organ 
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 HP:0002783 Recurrent lower respiratory tract infections 
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 HP:0200043 verrucae "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000127241 MASP1 / P48740 / mannan binding lectin serine peptidase 1  / complex
 ENSG00000142748 FCN3 / O75636 / ficolin 3  / complex
 ENSG00000009724 MASP2 / O00187 / mannan binding lectin serine peptidase 2  / complex






 

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© Olivier Tassy / Olivier Pourquie 2007-2020
contact: otassy@igbmc.fr