Gene: CFB

Alternate names for this Gene: AHUS4|ARMD14|BF|BFD|CFAB|CFBD|FB|FBI12|GBG|H2-Bf|PBF2

Gene 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 yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: complement factor B

Type of Gene: protein-coding

Gene: CYP21A2

Alternate names for this Gene: CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: cytochrome P450 family 21 subfamily A member 2

Type of Gene: protein-coding

rs1270942 in CFB;CYP21A2 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs541862 in CFB;CYP21A2 gene and Age related macular degeneration PMID 23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

PMID 22694956 2012 Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

PMID 20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

PMID 21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs1270942 in CFB;CYP21A2 gene and Autoimmune thyroiditis PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

rs4151659 in CFB;CYP21A2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1270942 in CFB;CYP21A2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

PMID 25936594 2015 Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

rs641153 in CFB;CYP21A2 gene and Exudative age-related macular degeneration PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs641153 in CFB;CYP21A2 gene and Geographic Atrophy PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs117905900 in CFB;CYP21A2 gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 17182750 2007 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

rs1270942 in CFB;CYP21A2 gene and Lupus Erythematosus, Systemic PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs1270942 in CFB;CYP21A2 gene and Malignant neoplasm of lung PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

rs1270942 in CFB;CYP21A2 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs1270942 in CFB;CYP21A2 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs4151657 in CFB;CYP21A2 gene and Ulcerative Colitis PMID 24837172 2015 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.

rs641153 in CFB;CYP21A2 gene and exudative macular degeneration PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.