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C4BPB

Synonyms
C4BP
External resources
Summary
This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
817
Likely benign
54
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on C4BPB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the ear
12.5%
Abnormality of the eye
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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