CFB (complement factor B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 629
Gene name Complement factor B
Gene symbol CFB
Synonyms (NCBI Gene)
AHUS4ARMD14BFBFDCFABCFBDFBFBI12GBGH2-BfPBF2
Chromosome 6
Chromosome location 6p21.33
Summary 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.
6
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.
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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 Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CREB5 Activation 21132541
STAT3 Activation 22169226
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138470 1037 ENSG00000243649
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atypical hemolytic-uremic syndrome Likely pathogenic; Pathogenic rs2482685692, rs117905900, rs121909748 RCV005864670
RCV005864442
RCV005864443
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome with B factor anomaly Likely pathogenic; Pathogenic rs117905900, rs121909748 RCV000017459
RCV000017460
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CFB-related disorder Likely pathogenic; Pathogenic rs2482685692 RCV003335941
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement factor b deficiency Likely pathogenic rs2482687881 RCV003991153
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (41)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Age related macular degeneration 14 Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance ClinVar
★★★★★
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Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL — Disgenet
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Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (163)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 28322200
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Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 6958349
★★★★★
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Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration CTD_human_DG 16518403
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 17576744, 18493315, 18502988, 19001225, 19015224, 19169232, 19169411, 19187590, 19255449, 19259132, 19277984, 19556007, 19661236, 19696172, 19899988
View all (37 more)
★★★★★
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration LHGDN 18806297
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 20385826, 21665990, 22694956
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASDB_DG 20385826, 21665990, 22694956, 22705344, 23577725
★★★★★
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GENOMICS_ENGLAND_DG
★★★★★
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Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 1401488
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Found in Text Mining only