Aliases for C4BPB Gene
Aliases for C4BPB Gene
External Ids for C4BPB Gene
- HGNC: 1328
- Entrez Gene: 725
- Ensembl: ENSG00000123843
- OMIM: 120831
- UniProtKB: P20851
Previous HGNC Symbols for C4BPB Gene
- C4BP
Previous GeneCards Identifiers for C4BPB Gene
- GC01P205922
- GC01P202972
- GC01P203905
- GC01P204346
- GC01P203650
- GC01P205328
- GC01P207262
- GC01P177959
- GC01P207006
Summaries for C4BPB Gene
-
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]
GeneCards Summary for C4BPB Gene
C4BPB (Complement Component 4 Binding Protein Beta) is a Protein Coding gene. Among its related pathways are Complement and coagulation cascades and FOXA1 transcription factor network. An important paralog of this gene is CFB.
UniProtKB/Swiss-Prot for C4BPB Gene
-
Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C4BPB Gene
Genomics for C4BPB Gene
GeneHancer (GH) Regulatory Elements for C4BPB Gene
Promoters and enhancers for C4BPB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around C4BPB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the C4BPB gene promoter:
Regulatory Element Products
Genomic Locations for C4BPB Gene
Genomic Locations for C4BPB Gene
- chr1:207,088,842-207,099,993
- (GRCh38/hg38)
- Size:
- 11,152 bases
- Orientation:
- Plus strand
- chr1:207,262,187-207,273,338
- (GRCh37/hg19)
Genomic View for C4BPB Gene
Genes around C4BPB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by Entrez Gene
- 1q32.1 by HGNC
- 1q32.1 by Ensembl
C4BPB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for C4BPB Gene
Proteins for C4BPB Gene
-
Protein details for C4BPB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20851-C4BPB_HUMAN
- Recommended name:
- C4b-binding protein beta chain
- Protein Accession:
- P20851
- A5JYP8
- D3DT81
- Q5VVR0
- Q9BS25
Protein attributes for C4BPB Gene
- Size:
- 252 amino acids
- Molecular mass:
- 28357 Da
- Quaternary structure:
-
- Disulfide-linked complex of alpha and beta chains of 3 possible sorts: a 570 kDa complex of 7 alpha chains and 1 beta chain, a 530 kDa homoheptamer of alpha chains or a 500 kDa complex of 6 alpha chains and 1 beta chain. The central body of the alpha chain homopolymer supports tentacles, each with the binding site for C4b at the end.
Protein Expression for C4BPB Gene
Post-translational modifications for C4BPB Gene
Other Protein References for C4BPB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for C4BPB Gene
Domains & Families for C4BPB Gene
Gene Families for C4BPB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted secreted proteins
Protein Domains for C4BPB Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for C4BPB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for C4BPB Gene
Function for C4BPB Gene
Molecular function for C4BPB Gene
- UniProtKB/Swiss-Prot Function:
- Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S.
- GENATLAS Biochemistry:
- complement component 4,binding protein beta,45kDa,regulator of C3 convertase of classical pathway,see RCA@
Phenotypes From GWAS Catalog for C4BPB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14607961 |
Phenotypes for C4BPB Gene
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C4BPB Gene
Localization for C4BPB Gene
Subcellular locations from UniProtKB/Swiss-Prot for C4BPB Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | NAS | 14718574 |
| GO:0005615 | extracellular space | IDA | 14607961 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0044216 | other organism cell | IDA | 22333221 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for C4BPB Gene
Pathways & Interactions for C4BPB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Immune response Lectin induced complement pathway | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Complement and coagulation cascades | ||
| 4 | Pertussis | ||
| 5 | Creation of C4 and C2 activators | ||
Pathways by source for C4BPB Gene
1 BioSystems pathway for C4BPB Gene
4 Reactome pathways for C4BPB Gene
2 KEGG pathways for C4BPB Gene
2 GeneGo (Thomson Reuters) pathways for C4BPB Gene
Interacting Proteins for C4BPB Gene
GPS-Prot Interaction Network for C4BPB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006958 | complement activation, classical pathway | IEA | -- |
| GO:0007596 | blood coagulation | TAS | 8325877 |
| GO:0030449 | regulation of complement activation | TAS | -- |
| GO:0045087 | innate immune response | IEA | -- |
| GO:0045732 | positive regulation of protein catabolic process | IDA | 22333221 |
No data available for SIGNOR curated interactions for C4BPB Gene
Drugs & Compounds for C4BPB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 2430 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for C4BPB Gene
mRNA/cDNA for C4BPB Gene
- (5) Additional mRNA sequences :
- (8) REFSEQ mRNAs :
- (72) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000243611 1117 bps (uc001hfl.4)
- ENST00000367076 1113 bps (uc001hfk.4)
- ENST00000367078 978 bps (uc057oyu.1)
- ENST00000391923 949 bps (uc001hfm.4)
- ENST00000452902 742 bps (uc057oyw.1)
Unigene Clusters for C4BPB Gene
CRISPR Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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| 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: |
Expression for C4BPB Gene
mRNA differential expression in normal tissues according to GTEx for C4BPB Gene
This gene is overexpressed in Liver (x46.3).
This gene is overexpressed in Serum (35.0), Plasma (22.0), and Synovial fluid (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C4BPB Gene
NURSA nuclear receptor signaling pathways regulating expression of C4BPB Gene:
C4BPBSOURCE GeneReport for Unigene cluster for C4BPB Gene:
Hs.99886Evidence on tissue expression from TISSUES for C4BPB Gene
- Liver(4.6)
- Bone marrow(4.1)
- Muscle(4.1)
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C4BPB Gene
Orthologs for C4BPB Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C4BPB 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | C4BPB 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | C4bpb 33 |
|
||
| cow (Bos Taurus) |
Mammalia | C4BPB 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | C4BPB 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | C4BPB 34 |
|
OneToOne |
- Species where no ortholog for C4BPB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- mouse (Mus musculus)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for C4BPB Gene
- ENSEMBL:
- Gene Tree for C4BPB (if available)
- TreeFam:
- Gene Tree for C4BPB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for C4BPB: view image
Paralogs for C4BPB Gene
(34) SIMAP similar genes for C4BPB Gene using alignment to 3 proteins:
- C4BPB_HUMAN
- E7EQT9_HUMAN
- Q5VVQ7_HUMAN
Variants for C4BPB Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs3813948 | benign, not specified | 207,096,513(+) | T/C | 3_prime_UTR_variant, intron_variant | |
| rs56054349 | benign, not specified | 207,096,510(+) | C/T | 3_prime_UTR_variant, intron_variant | |
| rs6690037 | benign, not specified | 207,090,484(+) | A/C/G | intron_variant | |
| rs8942 | benign, not specified | 207,096,574(+) | C/G/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant | |
| rs1000026195 | -- | 207,090,575(+) | G/A | intron_variant |
Residual Variation Intolerance Score:
51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.57;
12.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for C4BPB Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- C4BPB
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4BPB Gene
Disorders for C4BPB Gene
Additional Disease Information for C4BPB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for C4BPB Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C4BPB Gene
Publications for C4BPB Gene
- The human C4b-binding protein beta-chain gene. (PMID: 8325877) Hillarp A … Dahlbäck B (The Journal of biological chemistry 1993) 2 3 4 22 58
- Cloning of cDNA coding for the beta chain of human complement component C4b-binding protein: sequence homology with the alpha chain. (PMID: 2300577) Hillarp A … Dahlbäck B (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 58
- C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies. (PMID: 20212171) Buil A … Morange PE (Blood 2010) 3 44 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 34 available C4BPB Antibodies ranked by validation data
- Compare Top C4BPB Antibodies
- antibodies-online: Search results for 11 available C4BPB Elisa Kits ranked by validation data
- Compare Top C4BPB Elisa Kits
- antibodies-online: Search results for 6 available C4BPB Proteins ranked by validation data
- Compare Top C4BPB Proteins
- GeneTex C4BPB Antibody for C4BPB
- Search GeneTex for Proteins for C4BPB
- Santa Cruz Biotechnology (SCBT) Antibodies for C4BPB
- Search Santa Cruz Biotechnology (SCBT) for C4BPB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for C4BPB
- Horizon Cell Lines for C4BPB
- genomics-online: cdna clones - Search results for 86 available C4BPB gene related products
- Overview of 86 available C4BPB gene related products
- orf clones - Search results for 86 available C4BPB gene related products
- Overview of 86 available C4BPB gene related products
- genomics-online: gRNA clones - Search results for 86 available C4BPB gene related products
- Overview of 86 available C4BPB gene related products
- genomics-online: primer clones - Search results for 86 available C4BPB gene related products
- Overview of 86 available C4BPB gene related products
- genomics-online: shRNA clones - Search results for 86 available C4BPB gene related products
- Overview of 86 available C4BPB gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for C4BPB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for C4BPB
- GeneCopoeia miRNA 3'UTR Target clone products for C4BPB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C4BPB
- Boster Bio Antibodies for C4BPB
- Browse Boster Bio ELISA Kits
Sources for C4BPB Gene
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- (8) Gene Wiki
- (9) UCSC
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- (33) HomoloGene
- (34) PanEnsembl
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- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (47) Atlas
- (48) Cell Signaling Technology
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- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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