Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component 2

The gene C2 encodes a serum glycoprotein of the classical complement activation pathway. It is cleaved by activated C1 into C2a and C2b. C2b is an anaphylaxin. The proteinase C2a along with complement factor 4b activate C3 and C5. Deficiency of C2 are usually well compensated, but association with certain autoimmune diseases and age-related macular degeneration are reported.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Complement C2 deficiency
C2
Age-related macula degeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2

References:

1.

Maller J et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

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2.

Gold B et al. (2006) Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

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3.

Wolski KP et al. (1976) Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family.

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4.

Day NK et al. (1976) Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

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5.

Johnson CA et al. (1992) Molecular heterogeneity of C2 deficiency.

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6.

Jönsson G et al. (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.

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7.

Johnson CA et al. (1992) Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

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8.

Saevarsdottir S et al. (2007) Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals.

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9.

Hussain A et al. (2007) C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl.

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10.

Yuste J et al. (2010) Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.

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11.

Hauck F et al. (2011) Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

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12.

Jönsson G et al. (2012) Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation.

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13.

Miller EC et al. (2012) Overcoming C2 deficiency.

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14.

None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families.

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15.

Dunham I et al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.

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16.

Raum D et al. (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex.

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17.

Bentley DR et al. (1984) Isolation of cDNA clones for human complement component C2.

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18.

Wetsel RA et al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 > Phe; Gly444 > Arg) cause impaired C2 secretion.

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19.

Raum D et al. (1976) The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.

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20.

Dewald G et al. (1979) Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.

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21.

Fu SM et al. (1974) Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.

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22.

None (1968) Nomenclature of complement.

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23.

Tokunaga K et al. (1982) Polymorphism of properdin factor B in Japanese. Description of a rare variant and data of association with HLA and C2.

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24.

Tokunaga K et al. (1981) Genetic polymorphism of the complement C2 in Japanese.

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25.

None (1976) Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.

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26.

NCBI article

NCBI 717 [^]
27.

OMIM.ORG article

Omim 613927 [^]
28.

Orphanet article

Orphanet ID 119106 [^]
29.

Wikipedia article

Wikipedia EN (Complement_component_2) [^]
Update: April 29, 2019