CFB (complement factor B)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
629
Gene name Gene Name - the full gene name approved by the HGNC.
Complement factor B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFB
Synonyms (NCBI Gene) Gene synonyms aliases
AHUS4, ARMD14, BF, BFD, CFAB, CFBD, FB, FBI12, GBG, H2-Bf, PBF2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yieldi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs4151667 T>A Benign, benign-likely-benign, likely-benign, pathogenic Coding sequence variant, missense variant
rs117905900 C>G,T Likely-benign, risk-factor Missense variant, coding sequence variant, synonymous variant
rs121909748 A>G Risk-factor Missense variant, coding sequence variant
rs200837114 G>A Pathogenic Coding sequence variant, missense variant
rs398123065 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT018836 hsa-miR-335-5p Microarray 18185580
MIRT027802 hsa-miR-98-5p Microarray 19088304
MIRT887347 hsa-miR-4760-3p CLIP-seq
MIRT887348 hsa-miR-662 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
CREB5 Activation 21132541
STAT3 Activation 22169226
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0001848 Function Complement binding TAS 11367526
GO:0001905 Process Activation of membrane attack complex IDA 30643019
GO:0002329 Process Pre-B cell differentiation IDA 3486249
GO:0002376 Process Immune system process IEA
GO:0004252 Function Serine-type endopeptidase activity IDA 624565, 3638964, 6554279, 6919543, 9748277, 30643019
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138470 1037 ENSG00000243649
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P00751
Protein name Complement factor B (EC 3.4.21.47) (C3/C5 convertase) (Glycine-rich beta glycoprotein) (GBG) (PBF2) (Properdin factor B) [Cleaved into: Complement factor B Ba (Ba); Complement factor B Bb (Bb)]
Protein function Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adapti
PDB 1DLE , 1Q0P , 1RRK , 1RS0 , 1RTK , 2OK5 , 2WIN , 2XWB , 2XWJ , 3HRZ , 3HS0 , 6QSW , 6QSX , 6RAV , 6RUR , 6RUV , 6T8U , 6T8V , 6T8W , 7JTN , 7JTQ , 7NOZ , 8ENU , 8EOK , 8UIN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 40 → 88 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 103 → 158 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 165 → 218 Sushi repeat (SCR repeat) Domain
PF00092 VWA 270 → 467 von Willebrand factor type A domain Domain
PF00089 Trypsin 481 → 752 Trypsin Domain
Sequence
Sequence length 764
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19 		  Alternative complement activation
Activation of C3 and C5
Regulation of Complement cascade
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Complement Component Deficiency complement factor b deficiency rs398124644 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hemolytic Uremic Syndrome Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome, atypical hemolytic-uremic syndrome with B factor anomaly N/A N/A ClinVar, GenCC
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Macular Degeneration macular degeneration N/A N/A ClinVar
Show/Hide Text Mining Associations (73)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 19654554
Anemia Associate 34807970
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 36769297
Arthritis Associate 30770760
Arthritis Rheumatoid Associate 28774272, 36973646
Atelosteogenesis type 2 Associate 39195217
Atrial Fibrillation Associate 32389013
Atrophy Associate 34160562
Atypical Hemolytic Uremic Syndrome Associate 17182750, 20016463, 21103695, 22410797, 23356914, 24652797, 26559391, 29670616, 32540405, 33725982, 34721423, 36306276, 36755127
Basal Laminar Drusen Associate 22933840