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Aliases for C4BPB Gene

Aliases for C4BPB Gene

  • Complement Component 4 Binding Protein Beta 2 3 5
  • Complement Component 4 Binding Protein, Beta Chain 2
  • Complement Component 4-Binding Protein, Beta 2
  • C4b Binding Protein, Beta Chain 2
  • C4b-Binding Protein Beta Chain 3
  • 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. Among its related pathways are Innate Immune System and Creation of C4 and C2 activators. 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 CIViC summary , 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

Enhancers for C4BPB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G207017 2 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -62.2 -62174 18.4 CREB3L1 MLX YBX1 SP3 NFYC MEF2D NBN NR2C1 KDM1A WT1 C4BPA C4BPB FCAMR PIGR FCMR IL20 PFKFB2 C1orf116 GC01P207018
GH01G207088 1.5 Ensembl ENCODE dbSUPER 9.7 +0.6 640 2.9 FOXA2 ATF1 ZFP64 ARID4B DMAP1 ZNF48 YY1 GTF3C2 SLC30A9 SP5 RPL7AP20 CDCA4P4 C4BPB C4BPA
GH01G207407 1.1 FANTOM5 Ensembl 11.4 +319.1 319114 0.7 HDAC1 TBP PKNOX1 RAD21 YY1 TCF12 RCOR1 ETV6 CREM SMARCC1 CR1 CD55 CR2 C4BPB C4BPA CD46 YOD1 ENSG00000283044 ENSG00000274245
GH01G207004 1.5 Ensembl ENCODE dbSUPER 6.2 -81.0 -81039 7.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A BRCA1 ZNF2 ZNF766 GATA2 PIGR FCMR FCAMR IL24 IL20 PFKFB2 MAPKAPK2 IL19 C4BPB TRP-TGG5-1
GH01G207405 0.8 ENCODE 11.4 +316.3 316269 0.2 CTCF TFAP4 LEF1 FOXA2 RB1 ARNT ZNF384 ZSCAN9 RAD21 CHAMP1 CR2 CR1 C4BPB CD55 C4BPA ENSG00000283044 ENSG00000274245
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for C4BPB Gene

  • Glycosylation at posLast=6464, posLast=7171, Asn98, posLast=117117, and posLast=154154
  • 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

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

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

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.

Gene Ontology (GO) - Molecular Function for C4BPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14607961
genes like me logo Genes that share ontologies with C4BPB: view
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

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C4BPB gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for C4BPB Gene

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
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: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
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for C4BPB Gene



NURSA nuclear receptor signaling pathways regulating expression of C4BPB Gene:

C4BPB

SOURCE GeneReport for Unigene cluster for C4BPB Gene:

Hs.99886

Evidence on tissue expression from TISSUES for C4BPB Gene

  • Liver(4.6)
  • Bone marrow(4.1)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with C4BPB: view

Primer Products

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.

Orthologs for C4BPB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4BPB 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia C4BPB 34 35
  • 80.13 (n)
rat
(Rattus norvegicus)
Mammalia C4bpb 34
  • 76.71 (n)
cow
(Bos Taurus)
Mammalia C4BPB 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4BPB 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4BPB 35
  • 35 (a)
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)

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
rs1000026195 -- 207,090,575(+) TATAA(A/G)AAAAC intron-variant
rs1000154828 -- 207,097,644(+) CCTAA(G/T)TAACT intron-variant
rs1000257058 -- 207,090,817(+) TGTAT(A/G)CAAAC intron-variant
rs1000419714 -- 207,088,095(+) GGTTG(C/T)AGTGA upstream-variant-2KB
rs1000751574 -- 207,088,482(+) GCATA(C/T)CCTGA 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4BPB

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

Disorders for C4BPB Gene

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

No disorders were found for C4BPB Gene.

No data available for MalaCards , 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 22 64
  2. 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. … Dahlback B. (Proc. Natl. Acad. Sci. U.S.A. 1990) 2 3 4 64
  3. 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 P.E. (Blood 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64

Products for C4BPB Gene

Sources for C4BPB Gene

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