C4BPB Gene (Protein Coding)

Complement Component 4 Binding Protein Beta

GC01P207088
GIFtS:
41
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 throug... See more...

Aliases for C4BPB Gene

Aliases for C4BPB Gene

  • Complement Component 4 Binding Protein Beta 2 3 5
  • C4b-Binding Protein Beta Chain 3 4
  • Complement Component 4 Binding Protein, Beta Chain 2
  • Complement Component 4-Binding Protein, Beta 2
  • C4b Binding Protein, Beta Chain 2
  • C4BPB 5
  • 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 Patellar Tendinitis and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for C4BPB Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C4BPB Gene

Genomics for C4BPB Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C4BPB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J207088 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 259.6 +0.7 721 3 CEBPA ATF3 NFIC YY1 MXD4 CEBPB FOXA1 ZFP64 IRF2 EP300 C4BPB HSALNG0010079 C4BPA
GH01J207017 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.2 -62.1 -62127 18.4 IKZF1 MYC NCOR1 JUND ZNF592 ATF2 CEBPA BRCA1 POLR2A NFIC C1orf116 HSALNG0010068 EIF2D C4BPA CDCA4P4 C4BPB FCAMR PIGR FCMR RPL7AP20
GH01J207405 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.4 +318.4 318369 4.9 NCOR1 ZNF654 CEBPA ATF3 YY1 REST CTCF CEBPB ZNF592 TRIM22 CR1 CD55 CR2 C4BPB C4BPA CD46 YOD1 ENSG00000283044 lnc-CD55-3
GH01J206768 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -317.9 -317875 4.5 BCLAF1 SP1 IKZF1 POLR2A NFIC BCL11A SIN3A TRIM22 MAFF IRF4 IL10 IL19 lnc-IL10-5 MAPKAPK2 IL24 IL20 C4BPB RASSF5
GH01J207001 Enhancer 1.3 Ensembl ENCODE dbSUPER 6.2 -82.5 -82509 10.2 ZNF654 NCOR1 IKZF1 SSRP1 ZNF592 KLF9 BRCA1 CHD4 REST CEBPB HSALNG0010066 TRP-TGG5-1 PIGR FCMR FCAMR IL24 IL20 PFKFB2 MAPKAPK2 IL19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C4BPB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C4BPB

Top Transcription factor binding sites by QIAGEN in the C4BPB gene promoter:
  • C/EBPbeta
  • GATA-1
  • GATA-2
  • GATA-3

Genomic Locations for C4BPB Gene

Latest Assembly
chr1:207,088,795-207,099,993
(GRCh38/hg38)
Size:
11,199 bases
Orientation:
Plus strand

Previous Assembly
chr1:207,262,205-207,273,338
(GRCh37/hg19 by Entrez Gene)
Size:
11,134 bases
Orientation:
Plus strand

chr1:207,262,187-207,273,338
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for C4BPB Gene

Proteins for C4BPB Gene

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  • 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

Protein Expression for C4BPB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C4BPB Gene

  • Glycosylation at Asn64, Asn71, Asn98, Asn117, Asn154, and Asn214
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • C4BPB_HUMAN (1052)

Other Protein References for C4BPB Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for C4BPB Gene

GenScript: Design optimal peptide antigens:
  • C4b-binding protein beta chain (C4BPB_HUMAN)
genes like me logo Genes that share domains with C4BPB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C4BPB Gene

Function for C4BPB Gene

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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

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 Models for research

miRNA for C4BPB Gene

miRTarBase miRNAs that target C4BPB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C4BPB

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
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 0

Gene Ontology (GO) - Cellular Components for C4BPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS --
GO:0005615 extracellular space IDA 14607961
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with C4BPB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C4BPB Gene

Pathways & Interactions for C4BPB Gene

PathCards logo

SuperPathways for C4BPB Gene

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

Pathways by source for C4BPB Gene

1 BioSystems pathway for C4BPB Gene
2 KEGG pathways for C4BPB Gene
2 GeneGo (Thomson Reuters) pathways for C4BPB Gene
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway

Gene Ontology (GO) - Biological Process for C4BPB Gene

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 --
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

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(9) Drugs for C4BPB Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1706
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

(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

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mRNA/cDNA for C4BPB Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C4BPB

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

Expression for C4BPB Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C4BPB Gene

mRNA expression in normal human tissues for C4BPB Gene
mRNA expression by GTEx for C4BPB GenemRNA expression by BioGPS for C4BPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)
  • Ovary (Reproductive System)

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, MaxQB, and MOPED for C4BPB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C4BPB

SOURCE GeneReport for Unigene cluster for C4BPB Gene:

Hs.99886

Evidence on tissue expression from TISSUES for C4BPB Gene

  • Liver(4.7)
  • Muscle(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with C4BPB: view

Primer products for research

No data available for 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 29 30
  • 99.2 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C4BPB 29 30
  • 80.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia C4bpb 29
  • 76.71 (n)
Cow
(Bos Taurus)
 Mammalia C4BPB 30
  • 64 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C4BPB 30
  • 48 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia C4BPB 30
  • 35 (a)
 OneToOne
Species where no ortholog for C4BPB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for C4BPB

Paralogs for C4BPB Gene

Paralogs for C4BPB Gene

(34) SIMAP similar genes for C4BPB Gene using alignment to 3 proteins:

  • C4BPB_HUMAN
  • E7EQT9_HUMAN
  • Q5VVQ7_HUMAN
genes like me logo Genes that share paralogs with C4BPB: view

Variants for C4BPB Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C4BPB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs148205272 Benign: not provided 207,090,315(+) C/T
NM_001017365.3(C4BPB):c.66C>T (p.His22=) 		SYNONYMOUS
rs3813948 Benign: not specified 207,096,513(+) T/C
NM_001017365.3(C4BPB):c.410-9T>C 		INTRON
rs56054349 Benign: not specified 207,096,510(+) C/T
NM_001017365.3(C4BPB):c.410-12C>T 		INTRON
rs56073690 Benign: not provided 207,090,354(+) C/T
NM_001017365.3(C4BPB):c.105C>T (p.Val35=) 		SYNONYMOUS
rs6690037 Benign: not specified 207,090,484(+) A/G
NM_001017365.3(C4BPB):c.232+3A>G 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C4BPB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for C4BPB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4BPB
Leiden Open Variation Database (LOVD)
C4BPB

SNP Genotyping and Copy Number Assays for research

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

Disorders for C4BPB Gene

MalaCards: The human disease database

(3) MalaCards diseases for C4BPB Gene - From: COP

Disorder Aliases PubMed IDs
patellar tendinitis
  • patellar tendonitis
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards
Search C4BPB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C4BPB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 … Dahlbäck B (The Journal of biological chemistry 1993) 2 3 4 22
  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 … Dahlbäck B (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4
  3. 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 40
  4. 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 40
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 40

ExternalLinks

View latest publications for C4BPB gene in Mastermind

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