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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. [provided by RefSeq, Jul 2008]
C4BPB (Complement Component 4 Binding Protein Beta) is a Protein Coding gene. Diseases associated with C4BPB include Patellar Tendinitis and Cone-Rod Dystrophy 2. Among its related pathways are FOXA1 transcription factor network and Innate Immune System. An important paralog of this gene is C4BPA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14607961 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | NAS | -- |
GO:0005615 | extracellular space | IDA | 14607961 |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Lectin induced complement pathway |
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
|
|
2 | Innate Immune System |
.61
|
|
3 | Complement and coagulation cascades | ||
4 | Pertussis | ||
5 | Creation of C4 and C2 activators |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006958 | complement activation, classical pathway | IEA | -- |
GO:0007596 | blood coagulation | TAS | 8325877 |
GO:0009609 | response to symbiotic bacterium | IDA | 22333221 |
GO:0030449 | regulation of complement activation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
Zinc chloride | Approved, Investigational | Pharma | Target, modulator | 0 | ||
Zinc sulfate, unspecified form | Approved, Experimental | Pharma | Target, modulator | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C4BPB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C4BPB 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | C4bpb 30 |
|
||
Cow (Bos Taurus) |
Mammalia | C4BPB 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C4BPB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C4BPB 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
741452 | Benign: not provided | 207,090,315(+) | C/T | SYNONYMOUS_VARIANT | |
748377 | Likely Benign: not provided | 207,098,228(+) | C/T | SYNONYMOUS_VARIANT | |
780296 | Benign: not provided | 207,090,354(+) | C/T | SYNONYMOUS_VARIANT | |
rs3813948 | Benign: not specified | 207,096,513(+) | T/C | INTRON_VARIANT | |
rs56054349 | Benign: not specified | 207,096,510(+) | C/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
patellar tendinitis |
|
|
cone-rod dystrophy 2 |
|
|