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Aliases for C4BPB Gene

Aliases for C4BPB Gene

  • Complement Component 4 Binding Protein Beta 2 3
  • Complement Component 4-Binding Protein, Beta 2
  • Complement Component 4 Binding Protein, Beta 5
  • Complement Component 4 Binding Protein 2
  • C4b Binding Protein 2
  • Beta Chain 2
  • C4BP 3

External Ids for C4BPB Gene

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

Entrez Gene Summary 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. Diseases associated with C4BPB include bleeding disorder, platelet-type, 15. Among its related pathways are Complement and coagulation cascades and Immune System. An important paralog of this gene is ENSG00000244255.

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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C4BPB Gene

Genomics for C4BPB Gene

Regulatory Elements for C4BPB Gene

Promoters for C4BPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C4BPB on UCSC Golden Path with GeneCards custom track

Genomic Location for C4BPB Gene

Chromosome:
1
Start:
207,088,842 bp from pter
End:
207,099,993 bp from pter
Size:
11,152 bases
Orientation:
Plus strand

Genomic View for C4BPB Gene

Genes around C4BPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4BPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4BPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for C4BPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C4BPB Gene

Proteomics data for C4BPB Gene at MOPED

Post-translational modifications for C4BPB Gene

  • Glycosylation at Asn 64, Asn 71, Asn 98, Asn 117, and Asn 154
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for C4BPB Gene

Domains & Families for C4BPB Gene

Gene Families for C4BPB Gene

Protein Domains for C4BPB Gene

Suggested Antigen Peptide Sequences for C4BPB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20851

UniProtKB/Swiss-Prot:

C4BPB_HUMAN :
  • Contains 3 Sushi (CCP/SCR) domains.
Domain:
  • Contains 3 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with C4BPB: view

Function for C4BPB Gene

Molecular function for C4BPB Gene

GENATLAS Biochemistry:
complement component 4,binding protein beta,45kDa,regulator of C3 convertase of classical pathway,see RCA@
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.
genes like me logo Genes that share phenotypes with C4BPB: view

Animal Model Products

CRISPR Products

miRNA for C4BPB Gene

miRTarBase miRNAs that target C4BPB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C4BPB Gene COMPARTMENTS Subcellular localization image for C4BPB gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for C4BPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
genes like me logo Genes that share ontologies with C4BPB: view

Pathways & Interactions for C4BPB Gene

genes like me logo Genes that share pathways with C4BPB: view

Pathways by source for C4BPB Gene

Gene Ontology (GO) - Biological Process for C4BPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006958 complement activation, classical pathway IEA --
GO:0045087 innate immune response IEA,TAS --
GO:1903027 regulation of opsonization IC 22333221
genes like me logo Genes that share ontologies with C4BPB: view

No data available for SIGNOR curated interactions for C4BPB Gene

Drugs & Compounds for C4BPB Gene

(5) Drugs for C4BPB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for C4BPB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C4BPB: view

Transcripts for C4BPB Gene

Unigene Clusters for C4BPB Gene

Complement component 4 binding protein, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C4BPB Gene

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:

Relevant External Links for C4BPB Gene

GeneLoc Exon Structure for
C4BPB
ECgene alternative splicing isoforms for
C4BPB

Expression for C4BPB Gene

mRNA expression in normal human tissues for C4BPB Gene

mRNA differential expression in normal tissues according to GTEx for C4BPB Gene

This gene is overexpressed in Liver (x46.3).

Protein differential expression in normal tissues from HIPED for C4BPB Gene

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, PaxDb, MOPED, and MaxQB for C4BPB Gene



SOURCE GeneReport for Unigene cluster for C4BPB Gene Hs.99886

genes like me logo Genes that share expression patterns with C4BPB: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for C4BPB Gene

Orthologs for C4BPB Gene

This gene was present in the common ancestor of mammals.

Orthologs for C4BPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4BPB 35
  • 99.2 (n)
  • 99.2 (a)
C4BPB 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C4BPB 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C4BPB 36
  • 66 (a)
OneToOne
C4BPB 35
  • 80.13 (n)
  • 69.6 (a)
oppossum
(Monodelphis domestica)
Mammalia C4BPB 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4BPB 36
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C4bpb 35
  • 76.71 (n)
  • 66.67 (a)
Species with no ortholog for C4BPB:
  • 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)

Paralogs for C4BPB Gene

Paralogs for C4BPB Gene

genes like me logo Genes that share paralogs with C4BPB: view

Variants for C4BPB Gene

Sequence variations from dbSNP and Humsavar for C4BPB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1803226 - 207,098,238(+) AAGCT(C/T)CCAAA reference, missense
rs56258224 - 207,091,715(+) GTGAC(A/C)AAATC reference, missense
rs8942 -- 207,096,574(+) AATAA(C/G/T)TTCAC downstream-variant-500B, reference, synonymous-codon
rs1052511 -- 207,089,305(+) CCTTT(A/G)TATTT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs2101313 -- 207,088,949(+) CAGGT(A/G)AGGTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C4BPB Gene

Variant ID Type Subtype PubMed ID
nsv832426 CNV Gain 17160897

Variation tolerance for C4BPB Gene

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)

Relevant External Links for C4BPB Gene

HapMap Linkage Disequilibrium report
C4BPB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4BPB Gene

Disorders for C4BPB Gene

MalaCards: The human disease database

(1) MalaCards diseases for C4BPB Gene - From: GeneTests

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 15
  • bleeding disorder, platelet-type 15
- elite association - COSMIC cancer census association via MalaCards
Search C4BPB in MalaCards View complete list of genes associated with diseases

Relevant External Links for C4BPB

Genetic Association Database (GAD)
C4BPB
Human Genome Epidemiology (HuGE) Navigator
C4BPB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C4BPB
genes like me logo Genes that share disorders with C4BPB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C4BPB Gene

Publications for C4BPB Gene

  1. The human C4b-binding protein beta-chain gene. (PMID: 8325877) Hillarp A. … Dahlback B. (J. Biol. Chem. 1993) 2 3 4 23 67
  2. Human C4b-binding protein, structural basis for interaction with streptococcal M protein, a major bacterial virulence factor. (PMID: 16330538) Jenkins H.T. … Barlow P.N. (J. Biol. Chem. 2006) 3 23
  3. C4b-binding protein binds to necrotic cells and DNA, limiting DNA release and inhibiting complement activation. (PMID: 15967823) Trouw L.A. … Blom A.M. (J. Exp. Med. 2005) 3 23
  4. Functions of human complement inhibitor C4b-binding protein in relation to its structure. (PMID: 15179322) Blom A.M. … DahlbAock B. (Arch. Immunol. Ther. Exp. (Warsz.) 2004) 3 23
  5. Role of CCP2 of the C4b-binding protein beta-chain in protein S binding evaluated by mutagenesis and monoclonal antibodies. (PMID: 12492479) Webb J.H. … Blom A.M. (Eur. J. Biochem. 2003) 3 23

Products for C4BPB Gene

Sources for C4BPB Gene

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