ENSG00000171564


Homo sapiens

Features
Gene ID: ENSG00000171564
  
Biological name :FGB
  
Synonyms : FGB / fibrinogen beta chain / P02675
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q31.3
Gene start: 154562956
Gene end: 154571086
  
Corresponding Affymetrix probe sets: 204988_at (Human Genome U133 Plus 2.0 Array)   216238_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426757
Ensembl peptide - ENSP00000306099
Ensembl peptide - ENSP00000398719
NCBI entrez gene - 2244     See in Manteia.
OMIM - 134830
RefSeq - NM_005141
RefSeq - NM_001184741
RefSeq Peptide - NP_001171670
RefSeq Peptide - NP_005132
swissprot - V9HVY1
swissprot - D6REL8
swissprot - F8W6P4
swissprot - P02675
Ensembl - ENSG00000171564
  
Related genetic diseases (OMIM): 202400 - Afibrinogenemia, congenital, 202400
  616004 - Dysfibrinogenemia, congenital, 616004
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
 fgbENSDARG00000008969Danio rerio
 FGBENSGALG00000009262Gallus gallus
 FgbENSMUSG00000033831Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FGA / P02671 / fibrinogen alpha chainENSG0000017156029
FGG / P02679 / fibrinogen gamma chainENSG0000017155727
TNN / Q9UQP3 / tenascin NENSG0000012033225
TNR / Q92752 / tenascin RENSG0000011614724
FGL1 / Q08830 / fibrinogen like 1ENSG0000010476023
TNC / P24821 / tenascin CENSG0000004198222
Q9Y5C1 / ANGPTL3 / angiopoietin like 3ENSG0000013285521
Q9BY76 / ANGPTL4 / angiopoietin like 4ENSG0000016777219
Q86XS5 / ANGPTL5 / angiopoietin like 5ENSG0000018715119
FN1 / P02751 / fibronectin 1ENSG0000011541418
TNXB / P22105 / tenascin XBENSG0000016847717


Protein motifs (from Interpro)
Interpro ID Name
 IPR002181  Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
 IPR012290  Fibrinogen, alpha/beta/gamma chain, coiled coil 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
 IPR037580  Fibrinogen beta chain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002224 toll-like receptor signaling pathway TAS
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007160 cell-matrix adhesion IDA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0031639 plasminogen activation IDA
 biological_processGO:0034116 positive regulation of heterotypic cell-cell adhesion IDA
 biological_processGO:0034622 cellular protein-containing complex assembly IDA
 biological_processGO:0042730 fibrinolysis IDA
 biological_processGO:0043152 induction of bacterial agglutination IDA
 biological_processGO:0044320 cellular response to leptin stimulus IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045907 positive regulation of vasoconstriction IDA
 biological_processGO:0045921 positive regulation of exocytosis IDA
 biological_processGO:0050714 positive regulation of protein secretion IDA
 biological_processGO:0051258 protein polymerization IDA
 biological_processGO:0051592 response to calcium ion IDA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0070527 platelet aggregation IDA
 biological_processGO:0071347 cellular response to interleukin-1 IEA
 biological_processGO:0072378 blood coagulation, fibrin clot formation IDA
 biological_processGO:0090277 positive regulation of peptide hormone secretion IDA
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading NAS
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005577 fibrinogen complex IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0031091 platelet alpha granule IDA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle IEA
 cellular_componentGO:1903561 extracellular vesicle HDA
 molecular_functionGO:0005102 signaling receptor binding IDA
 molecular_functionGO:0005198 structural molecule activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030674 protein binding, bridging IEA
 molecular_functionGO:0050839 cell adhesion molecule binding IDA
 molecular_functionGO:0051087 chaperone binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Common Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin alphaIIb beta3 signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
MAP2K and MAPK activation
Regulation of TLR by endogenous ligand
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by RAS mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF


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:0000225 Gingival bleeding 
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 HP:0000421 Epistaxis 
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 HP:0001342 Cerebral hemorrhage "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators]
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 HP:0001386 Joint swelling 
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0004936 Venous thrombosis 
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 HP:0005268 Increased risk of spontaneous abortion 
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 HP:0011900 Hypofibrinogenemia "Decreased concentration of fibrinogen in the blood." [HPO:probinson]
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 HP:0012223 Splenic rupture "A breach of the capsule of the spleen." [HPO:probinson]
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 HP:0400008 Menometrorrhagia "Prolonged/excessive menses and bleeding at irregular intervals. " [pmid:22594864]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050820 BCAR1 / P56945 / BCAR1, Cas family scaffolding protein  / complex / reaction
 ENSG00000035403 VCL / P18206 / vinculin  / complex
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / reaction / complex
 ENSG00000005961 ITGA2B / P08514 / integrin subunit alpha 2b  / reaction / complex
 ENSG00000140678 ITGAX / P20702 / integrin subunit alpha X  / complex / reaction
 ENSG00000160255 ITGB2 / P05107 / integrin subunit beta 2  / complex / reaction
 ENSG00000171560 FGA / P02671 / fibrinogen alpha chain  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000127314 RAP1B / P61224 / RAP1B, member of RAS oncogene family  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000259207 ITGB3 / P05106 / integrin subunit beta 3  / reaction / complex
 ENSG00000077420 Q7Z5R6 / APBB1IP / amyloid beta precursor protein binding family B member 1 interacting protein  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / reaction / complex
 ENSG00000171557 FGG / P02679 / fibrinogen gamma chain  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction / complex
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / complex / reaction
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / reaction / complex
 ENSG00000171564 FGB / P02675 / fibrinogen beta chain  / complex / reaction
 ENSG00000137076 TLN1 / Q9Y490 / talin 1  / complex / reaction
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / reaction
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / reaction / complex
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000156886 ITGAD / Q13349 / integrin subunit alpha D  / complex / reaction






 

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