This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade ... See more...

Aliases for C4BPA Gene

Aliases for C4BPA Gene

  • Complement Component 4 Binding Protein Alpha 2 3 5
  • C4b-Binding Protein Alpha Chain 3 4
  • Proline-Rich Protein 3 4
  • C4BP 3 4
  • PRP 3 4
  • Complement Component 4-Binding Protein, Alpha 2
  • C4BPA 5
  • C4bp 4

External Ids for C4BPA Gene

Previous HGNC Symbols for C4BPA Gene

  • C4BP

Previous GeneCards Identifiers for C4BPA Gene

  • GC01P205937
  • GC01P202987
  • GC01P203921
  • GC01P204361
  • GC01P203666
  • GC01P205344
  • GC01P207277
  • GC01P177975

Summaries for C4BPA Gene

Entrez Gene Summary for C4BPA Gene

  • This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. 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. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]

GeneCards Summary for C4BPA Gene

C4BPA (Complement Component 4 Binding Protein Alpha) is a Protein Coding gene. Diseases associated with C4BPA include Protein S Deficiency and Acute Poststreptococcal Glomerulonephritis. Among its related pathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot Summary for C4BPA 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. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C4BPA Gene

Genomics for C4BPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C4BPA 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
GH01J207103 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 296.8 -0.2 -231 1.6 CEBPA ATF3 YY1 CEBPB FOXA1 HOMEZ KMT2B THAP11 FOXA2 KDM6A C4BPA NONHSAG004117.2 HSALNG0010080 C4BPB
GH01J207017 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 -77.6 -77564 18.4 IKZF1 MYC NCOR1 JUND ZNF592 ATF2 CEBPA BRCA1 POLR2A NFIC C1orf116 HSALNG0010068 EIF2D C4BPA CDCA4P4 C4BPB FCAMR PIGR FCMR RPL7AP20
GH01J207319 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.6 +217.8 217806 5.5 SP1 ZNF207 ZNF600 NCOR1 MYC SSRP1 ZNF580 ZNF592 ATF2 POLR2A CD55 EIF2D CD46 CDCA4P4 CR2 C4BPA NONHSAG004121.2
GH01J207644 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +541.5 541522 2.7 SP1 ZNF207 MYC IKZF1 ZNF600 ZNF592 ZIC2 NFIC SMAD5 SIN3A CD46P1 CR1L C4BPA MIR29B2CHG CD46 CDCA4P3
GH01J207077 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 -26.2 -26231 1.2 BCLAF1 ZNF654 MYC ZNF592 CEBPA YY1 CTCF REST CEBPB DEK HSALNG0010076 PFKFB2 CR1 C4BPA FCAMR PIGR HSALNG0010074 HSALNG0010075 C4BPB YOD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C4BPA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C4BPA

Top Transcription factor binding sites by QIAGEN in the C4BPA gene promoter:
  • AML1a
  • C/EBPbeta
  • FOXO1
  • FOXO1a
  • ISGF-3
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox9

Genomic Locations for C4BPA Gene

Latest Assembly
chr1:207,104,232-207,144,972
(GRCh38/hg38)
Size:
40,741 bases
Orientation:
Plus strand

Previous Assembly
chr1:207,277,578-207,318,317
(GRCh37/hg19 by Entrez Gene)
Size:
40,740 bases
Orientation:
Plus strand

chr1:207,277,607-207,318,317
(GRCh37/hg19 by Ensembl)
Size:
40,711 bases
Orientation:
Plus strand

Genomic View for C4BPA Gene

Genes around C4BPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4BPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4BPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4BPA Gene

Proteins for C4BPA Gene

  • Protein details for C4BPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04003-C4BPA_HUMAN
    Recommended name:
    C4b-binding protein alpha chain
    Protein Accession:
    P04003
    Secondary Accessions:
    • Q5VVQ8

    Protein attributes for C4BPA Gene

    Size:
    597 amino acids
    Molecular mass:
    67033 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.
    • (Microbial infection) Interacts with Staphylococcus aureus protein SdrE; this interaction inhibits complement-mediated bacterial opsonization.

    Three dimensional structures from OCA and Proteopedia for C4BPA Gene

neXtProt entry for C4BPA Gene

Post-translational modifications for C4BPA Gene

  • Glycosylation at Asn221, Asn506, and Asn528
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • C4BPA_HUMAN (1051)

Other Protein References for C4BPA Gene

No data available for DME Specific Peptides for C4BPA Gene

Domains & Families for C4BPA Gene

Gene Families for C4BPA Gene

Protein Domains for C4BPA Gene

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

Suggested Antigen Peptide Sequences for C4BPA Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich protein (C4BPA_HUMAN)
  • cDNA, FLJ93660, Homo sapiens complement component 4 binding protein, alpha (C4BPA),mRNA (Q5VVQ8_HUMAN)
genes like me logo Genes that share domains with C4BPA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C4BPA Gene

Function for C4BPA Gene

Molecular function for C4BPA 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. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.
GENATLAS Biochemistry:
complement component 4,binding protein alpha,70kDa,regulator of C3 convertase of classical pathway,see RCA@

Phenotypes From GWAS Catalog for C4BPA Gene

Gene Ontology (GO) - Molecular Function for C4BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 14607961
genes like me logo Genes that share ontologies with C4BPA: view

Phenotypes for C4BPA Gene

genes like me logo Genes that share phenotypes with C4BPA: view

Animal Models for research

  • Taconic Biosciences Mouse Models for C4BPA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C4BPA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C4BPA Gene

Localization for C4BPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4BPA 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 C4BPA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C4BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space HDA,IDA 14607961
GO:0005886 plasma membrane TAS --
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with C4BPA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C4BPA Gene

Pathways & Interactions for C4BPA Gene

PathCards logo

SuperPathways for C4BPA Gene

genes like me logo Genes that share pathways with C4BPA: view

Pathways by source for C4BPA Gene

1 BioSystems pathway for C4BPA Gene
2 KEGG pathways for C4BPA Gene
2 GeneGo (Thomson Reuters) pathways for C4BPA Gene
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway

Gene Ontology (GO) - Biological Process for C4BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0009609 response to symbiotic bacterium IDA 22333221
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with C4BPA: view

No data available for SIGNOR curated interactions for C4BPA Gene

Drugs & Compounds for C4BPA Gene

(10) Drugs for C4BPA Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
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

(6) Additional Compounds for C4BPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C4BPA: view

Transcripts for C4BPA Gene

mRNA/cDNA for C4BPA Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 C4BPA

Alternative Splicing Database (ASD) splice patterns (SP) for C4BPA Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for C4BPA Gene

GeneLoc Exon Structure for
C4BPA

Expression for C4BPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C4BPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C4BPA Gene

This gene is overexpressed in Liver (x48.7).

Protein differential expression in normal tissues from HIPED for C4BPA Gene

This gene is overexpressed in Plasma (24.1), Serum (19.7), and Synovial fluid (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C4BPA Gene



Protein tissue co-expression partners for C4BPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C4BPA

SOURCE GeneReport for Unigene cluster for C4BPA Gene:

Hs.1012

mRNA Expression by UniProt/SwissProt for C4BPA Gene:

P04003-C4BPA_HUMAN
Tissue specificity: Chylomicrons in the plasma.

Evidence on tissue expression from TISSUES for C4BPA Gene

  • Liver(4.9)
  • Lung(4.5)
  • Bone marrow(4.4)
  • Intestine(2.5)
  • Blood(2.3)
  • Saliva(2.2)
  • Heart(2.2)
  • Nervous system(2.2)
  • Muscle(2.1)
  • Kidney(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with C4BPA: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for C4BPA Gene

Orthologs for C4BPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for C4BPA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C4BPA 29 30
  • 98.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C4BPA 29 30
  • 75.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C4BPA 29 30
  • 73.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C4bpa 29
  • 71.57 (n)
Mouse
(Mus musculus)
Mammalia C4bp 30
  • 53 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C4BPA 30
  • 45 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C4BPA 30
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC419851 29
  • 45.79 (n)
C4BPA 30
  • 32 (a)
ManyToMany
-- 30
  • 26 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 32 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii rca2.2 30
  • 31 (a)
ManyToMany
rca2.1 30
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 10 (a)
OneToMany
Species where no ortholog for C4BPA 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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 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)

Evolution for C4BPA Gene

ENSEMBL:
Gene Tree for C4BPA (if available)
TreeFam:
Gene Tree for C4BPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C4BPA: view image
Alliance of Genome Resources:
Additional Orthologs for C4BPA

Paralogs for C4BPA Gene

(3) SIMAP similar genes for C4BPA Gene using alignment to 3 proteins:

  • C4BPA_HUMAN
  • A6PVY5_HUMAN
  • F2Z2V7_HUMAN

Pseudogenes.org Pseudogenes for C4BPA Gene

genes like me logo Genes that share paralogs with C4BPA: view

Variants for C4BPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C4BPA Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1126618 Benign: not specified 207,124,335(+) T/C
NM_000715.4(C4BPA):c.675T>C (p.Gly225=)
SYNONYMOUS
rs116795518 Benign: not provided 207,124,331(+) T/C
NM_000715.4(C4BPA):c.671T>C (p.Ile224Thr)
MISSENSE
rs116810489 Benign: not provided 207,113,122(+) C/G
NM_000715.4(C4BPA):c.97C>G (p.Leu33Val)
MISSENSE
rs12072216 Benign: not provided 207,113,035(+) C/G
NM_000715.4(C4BPA):c.10C>G (p.Pro4Ala)
MISSENSE
rs151108669 Benign: not provided 207,143,827(+) G/A
NM_000715.4(C4BPA):c.1454G>A (p.Arg485Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C4BPA 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 C4BPA Gene

Variant ID Type Subtype PubMed ID
dgv790n54 CNV loss 21841781
dgv791n54 CNV loss 21841781
esv1000470 CNV deletion 20482838
esv2722040 CNV deletion 23290073
esv28463 CNV gain 19812545
esv3545622 CNV deletion 23714750
esv3588666 CNV loss 21293372
esv3588667 CNV loss 21293372
esv7318 OTHER inversion 19470904
esv9705 CNV loss 19470904
nsv1110881 OTHER inversion 24896259
nsv511134 CNV gain 21212237
nsv549073 CNV gain+loss 21841781
nsv821224 CNV deletion 20802225
nsv832426 CNV gain 17160897

Variation tolerance for C4BPA Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C4BPA Gene

Human Gene Mutation Database (HGMD)
C4BPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4BPA
Leiden Open Variation Database (LOVD)
C4BPA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4BPA Gene

Disorders for C4BPA Gene

MalaCards: The human disease database

(4) MalaCards diseases for C4BPA Gene - From: COP and GCD

Disorder Aliases PubMed IDs
protein s deficiency
  • protein s deficiency disease
acute poststreptococcal glomerulonephritis
  • post-streptococcal glomerulonephritis
retinitis pigmentosa 45
  • rp45
myopathy, centronuclear, 2
  • cnm2
- elite association - COSMIC cancer census association via MalaCards
Search C4BPA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C4BPA

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 C4BPA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C4BPA Gene

Publications for C4BPA Gene

  1. Genomic organization of the alpha chain of the human C4b-binding protein gene. (PMID: 1989602) Aso T … Niho Y (Biochemical and biophysical research communications 1991) 3 4 22
  2. 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
  3. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (PMID: 20059470) Sullivan M … Neumann HP (Annals of human genetics 2010) 3 40
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 40
  5. Binding of the complement inhibitor C4b-binding protein to Lyme disease Borreliae. (PMID: 20022381) Pietikäinen J … Meri S (Molecular immunology 2010) 3 22

Products for C4BPA Gene

Sources for C4BPA Gene