ENSG00000243649


Homo sapiens

Features
Gene ID: ENSG00000243649
  
Biological name :CFB
  
Synonyms : CFB / complement factor B / P00751
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.33
Gene start: 31945650
Gene end: 31952084
  
Corresponding Affymetrix probe sets: 202357_s_at (Human Genome U133 Plus 2.0 Array)   211920_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418833
Ensembl peptide - ENSP00000420090
Ensembl peptide - ENSP00000419887
Ensembl peptide - ENSP00000416561
Ensembl peptide - ENSP00000417793
NCBI entrez gene - 629     See in Manteia.
OMIM - 138470
RefSeq - NM_001710
RefSeq Peptide - NP_001701
swissprot - F8WBL9
swissprot - H7C526
swissprot - H7C5H1
swissprot - C9JRT3
swissprot - P00751
swissprot - A0A1U9X7H8
Ensembl - ENSG00000243649
  
Related genetic diseases (OMIM): 612924 - {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924
  615489 - {Macular degeneration, age-related, 14, reduced risk of}, 615489
  615561 - ?Complement factor B deficiency, 615561
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
 bfbENSDARG00000005616Danio rerio
 cfbENSDARG00000055278Danio rerio
 cfblENSDARG00000090730Danio rerio
 CfbENSMUSG00000090231Mus musculus
 Gm20547ENSMUSG00000092511Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AL645922.1ENSG0000024425598
C2 / P06681 / complement C2ENSG0000016627837
C4BPB / P20851 / complement component 4 binding protein betaENSG000001238439


Protein motifs (from Interpro)
Interpro ID Name
 IPR000436  Sushi/SCR/CCP domain
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR002035  von Willebrand factor, type A
 IPR009003  Peptidase S1, PA clan
 IPR011360  Complement B/C2
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR023355  Myotoxin/Anemone neurotoxin domain superfamily
 IPR028341  Complement factor B
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR035976  Sushi/SCR/CCP superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006956 complement activation TAS
 biological_processGO:0006957 complement activation, alternative pathway TAS
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0001848 complement binding TAS
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Alternative complement activation
Activation of C3 and C5
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002090 Pneumonia 
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 HP:0002586 Peritonitis 
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 HP:0005381 Recurrent meningococcal disease "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators]
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 HP:0005416 Decreased serum complement factor B 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000197766 CFD / P00746 / complement factor D  / reaction
 ENSG00000000971 CFH / P08603 / complement factor H  / complex / reaction
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000126759 CFP / P27918 / complement factor properdin  / complex / reaction
 ENSG00000196352 CD55 / P08174 / CD55 molecule (Cromer blood group)  / complex / reaction
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / complex / reaction






 

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