CFB (complement factor B)

2010-11-01 Affiliation

Identity

HGNC

CFB

LOCATION

6p21.33

LOCUSID

629

ALIAS

AHUS4,ARMD14,BF,BFD,CFAB,CFBD,FB,FBI12,GBG,H2-Bf,PBF2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 629
MIM: 138470
HGNC: 1037
Ensembl: ENSG00000243649

Variants:

dbSNP: 629
ClinVar: 629
TCGA: ENSG00000243649
COSMIC: CFB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000243649	ENST00000425368	P00751
ENSG00000243649	ENST00000425368	A0A1U9X7H8
ENSG00000243649	ENST00000460718	F8WBL9
ENSG00000243649	ENST00000475617	C9JRT3
ENSG00000243649	ENST00000483004	H7C5H1
ENSG00000243649	ENST00000498317	H7C526

Expression (GTEx)

500

1000

1500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Complement and coagulation cascades	KEGG	hsa04610
Staphylococcus aureus infection	KEGG	ko05150
Staphylococcus aureus infection	KEGG	hsa05150
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Complement cascade	REACTOME	R-HSA-166658
Initial triggering of complement	REACTOME	R-HSA-166663
Alternative complement activation	REACTOME	R-HSA-173736
Activation of C3 and C5	REACTOME	R-HSA-174577
Regulation of Complement cascade	REACTOME	R-HSA-977606

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16518403	2006	Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.	412
19838195	2009	A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.	316
20385819	2010	Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.	246
17767156	2007	Variation in complement factor 3 is associated with risk of age-related macular degeneration.	189
19117936	2009	Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.	121
19661236	2009	Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.	107
21205667	2010	Structures of C3b in complex with factors B and D give insight into complement convertase formation.	96
20513133	2010	Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.	88
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20205591	2010	Host determinants of HIV-1 control in African Americans.	80

Citation

Dessen P

CFB (complement factor B)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51771/cfb