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Aliases for C4B Gene

Aliases for C4B Gene

  • Complement Component 4B (Chido Blood Group) 2 3 5
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 3 3 4
  • Basic Complement C4 3 4
  • CPAMD3 3 4
  • CO4 3 4
  • Complement Component 4B 2
  • Chido Form Of C4 3
  • Complement C4B1a 3
  • EC 2.1.1.144 63
  • C4B C4B_2 4
  • EC 2.7.11 63
  • C4B12 3
  • C4B_2 3
  • C4B1 3
  • C4B2 3
  • C4B3 3
  • C4B5 3
  • C4BD 3
  • C4F 3
  • CH 3

External Ids for C4B Gene

Previous GeneCards Identifiers for C4B Gene

  • GC06P032012
  • GC06P031720
  • GC06P032054
  • GC06P032090
  • GC06P032060
  • GC06P031949
  • GC06P031736
  • GC06P031982

Summaries for C4B Gene

Entrez Gene Summary for C4B Gene

  • This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]

GeneCards Summary for C4B Gene

C4B (Complement Component 4B (Chido Blood Group)) is a Protein Coding gene. Diseases associated with C4B include C4b Deficiency and Immunodeficiency Due To An Early Component Of Complement Deficiency. Among its related pathways are Immune response Lectin induced complement pathway and Immune System. GO annotations related to this gene include carbohydrate binding and complement binding. An important paralog of this gene is CD109.

UniProtKB/Swiss-Prot for C4B Gene

  • Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.

  • Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.

Gene Wiki entry for C4B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C4B Gene

Genomics for C4B Gene

Regulatory Elements for C4B Gene

Enhancers for C4B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C4B on UCSC Golden Path with GeneCards custom track

Genomic Location for C4B Gene

Chromosome:
6
Start:
32,014,762 bp from pter
End:
32,035,418 bp from pter
Size:
20,657 bases
Orientation:
Plus strand

Genomic View for C4B Gene

Genes around C4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for C4B Gene

  • Protein details for C4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0L5-CO4B_HUMAN
    Recommended name:
    Complement C4-B
    Protein Accession:
    P0C0L5
    Secondary Accessions:
    • A2BHY4
    • P01028
    • P78445
    • Q13160
    • Q13906
    • Q14033
    • Q14835
    • Q6U2E9
    • Q6U2G1
    • Q6U2I5
    • Q6U2L1
    • Q6U2L7
    • Q6U2L9
    • Q6U2M5
    • Q6VCV8
    • Q96SA7
    • Q9NPK5
    • Q9UIP5

    Protein attributes for C4B Gene

    Size:
    1744 amino acids
    Molecular mass:
    192751 Da
    Quaternary structure:
    • Circulates in blood as a disulfide-linked trimer of alpha, beta and gamma chains.
    • Circulates in blood as a disulfide-linked trimer of alpha, beta and gamma chains.
    SequenceCaution:
    • Sequence=AAA99717.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for C4B Gene

neXtProt entry for C4B Gene

Proteomics data for C4B Gene at MOPED

Selected DME Specific Peptides for C4B Gene

Post-translational modifications for C4B Gene

  • Prior to secretion, the single-chain precursor is enzymatically cleaved to yield non-identical chains alpha, beta and gamma. During activation, the alpha chain is cleaved by C1 into C4a and C4b, and C4b stays linked to the beta and gamma chains. Further degradation of C4b by C1 into the inactive fragments C4c and C4d blocks the generation of C3 convertase. The proteolytic cleavages often are incomplete so that many structural forms can be found in plasma.
  • Glycosylation at Asn 226, Asn 862, Asn 1328, and Asn 1391
  • Modification sites at PhosphoSitePlus

Other Protein References for C4B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for C4
  • Abcam antibodies for C4d

Domains & Families for C4B Gene

Graphical View of Domain Structure for InterPro Entry

P0C0L5

UniProtKB/Swiss-Prot:

CO4B_HUMAN :
  • Contains 1 anaphylatoxin-like domain.
Domain:
  • Contains 1 anaphylatoxin-like domain.
  • Contains 1 NTR domain.
genes like me logo Genes that share domains with C4B: view

Function for C4B Gene

Molecular function for C4B Gene

GENATLAS Biochemistry:
complement component 4B,including the ZB transcript in the same orientation,complexing with C2 to form the C3/C5 convertase,classical pathway,see RCA@
UniProtKB/Swiss-Prot Function:
Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.
UniProtKB/Swiss-Prot Function:
Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.

Enzyme Numbers (IUBMB) for C4B Gene

Gene Ontology (GO) - Molecular Function for C4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0004866 endopeptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with C4B: view
genes like me logo Genes that share phenotypes with C4B: view

Human Phenotype Ontology for C4B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C4B Gene

MGI Knock Outs for C4B:

Animal Model Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for C4B Gene

Localization for C4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C4B Gene COMPARTMENTS Subcellular localization image for C4B gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for C4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044216 other organism cell IDA 22333221
genes like me logo Genes that share ontologies with C4B: view

Pathways & Interactions for C4B Gene

genes like me logo Genes that share pathways with C4B: view

Interacting Proteins for C4B Gene

Gene Ontology (GO) - Biological Process for C4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006956 complement activation IEA,TAS --
GO:0008228 opsonization TAS 22333221
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response IEA,TAS --
genes like me logo Genes that share ontologies with C4B: view

No data available for SIGNOR curated interactions for C4B Gene

Drugs & Compounds for C4B Gene

(6) Drugs for C4B Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Intravenous Immunoglobulin Approved, Investigational Pharma Target, binder 0

(3) Additional Compounds for C4B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C4B: view

Transcripts for C4B Gene

Unigene Clusters for C4B Gene

Complement component 4B (Chido blood group):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C4B Gene

No ASD Table

Relevant External Links for C4B Gene

GeneLoc Exon Structure for
C4B
ECgene alternative splicing isoforms for
C4B

Expression for C4B Gene

mRNA expression in normal human tissues for C4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C4B Gene

This gene is overexpressed in Liver (x17.5) and Adrenal Gland (x9.1).

Protein differential expression in normal tissues from HIPED for C4B Gene

This gene is overexpressed in Synovial fluid (26.0) and Vitreous humor (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C4B Gene



SOURCE GeneReport for Unigene cluster for C4B Gene Hs.720022

mRNA Expression by UniProt/SwissProt for C4B Gene

P0C0L5-CO4B_HUMAN
Tissue specificity: Complement component C4 is expressed at highest levels in the liver, at moderate levels in the adrenal cortex, adrenal medulla, thyroid gland,and the kidney, and at lowest levels in the heart, ovary, small intestine, thymus, pancreas and spleen. The extra-hepatic sites of expression may be important for the local protection and inflammatory response.
genes like me logo Genes that share expression patterns with C4B: view

Protein tissue co-expression partners for C4B Gene

Primer Products

Orthologs for C4B Gene

This gene was present in the common ancestor of chordates.

Orthologs for C4B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C4A 35
  • 83.71 (n)
  • 80.18 (a)
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia C4A 35
  • 83.94 (n)
  • 82.1 (a)
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia C4b 35
  • 79.01 (n)
  • 76.38 (a)
C4b 16
C4b 36
  • 77 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia C4A 35
  • 99.46 (n)
  • 99.2 (a)
-- 36
  • 99 (a)
ManyToMany
-- 36
  • 99 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia C4a 35
  • 80.8 (n)
  • 79.61 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves C4 35
  • 51.96 (n)
  • 39.76 (a)
C4 36
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c4a 35
  • 49.57 (n)
  • 42.11 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-8k3.2 35
  • 47 (n)
  • 37.33 (a)
c4 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
CSA.4097 36
  • 22 (a)
ManyToMany
Species with no ortholog for C4B:
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C4B Gene

ENSEMBL:
Gene Tree for C4B (if available)
TreeFam:
Gene Tree for C4B (if available)

Paralogs for C4B Gene

Paralogs for C4B Gene

genes like me logo Genes that share paralogs with C4B: view

Variants for C4B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C4B Gene

CO4B_HUMAN-P0C0L5
The complement component C4 is the most polymorphic protein of the complement system. It is the product of 2 closely linked and highly homologous genes, C4A and C4B. Once polymorphic variation is discounted, the 2 isotypes differ by only 4 amino acids at positions 1120-1125: PCPVLD for C4A and LSPVIH for C4B. The 2 isotypes bear several antigenic determinants defining Chido/Rodgers blood group system [MIM:614374]. Rodgers determinants are generally associated with C4A allotypes, and Chido with C4B. Variations at these loci involve not only nucleotide polymorphisms, but also gene number and gene size. The second copy of C4B gene present in some individuals has been called C4B_2 by the HUGO Gene Nomenclature Committee (HGNC). Some individuals may lack either C4A, or C4B gene. Partial deficiency of C4A or C4B is the most commonly inherited immune deficiency known in humans with a combined frequency over 31% in the normal Caucasian population (PubMed:11367523).

Sequence variations from dbSNP and Humsavar for C4B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs139889867 - 32,017,141(+) TGAGT(A/C)TCCAG reference, missense
VAR_023730 -
VAR_023731 -
rs2746414 - 32,029,189(-) ATGAG(C/T)TTGCC reference, missense
VAR_023734 -

Structural Variations from Database of Genomic Variants (DGV) for C4B Gene

Variant ID Type Subtype PubMed ID
dgv1928e1 CNV Complex 17122850
nsv428141 CNV Gain+Loss 18775914
dgv1929e1 CNV Complex 17122850
dgv6604n71 CNV Loss 21882294
nsv884514 CNV Loss 21882294
nsv284 CNV Loss 15895083
nsv5247 CNV Loss 18451855
dgv6607n71 CNV Loss 21882294
dgv6608n71 CNV Gain 21882294
dgv6609n71 CNV Loss 21882294
dgv6610n71 CNV Gain 21882294
dgv6611n71 CNV Gain 21882294
dgv6612n71 CNV Loss 21882294
dgv6613n71 CNV Loss 21882294
dgv6614n71 CNV Gain 21882294
dgv6615n71 CNV Gain 21882294
dgv6616n71 CNV Gain+Loss 21882294
esv28110 CNV Gain+Loss 19812545
dgv6617n71 CNV Gain+Loss 21882294
nsv10824 CNV Gain+Loss 18304495
nsv884551 CNV Loss 21882294
nsv884553 CNV Gain 21882294
dgv6618n71 CNV Gain+Loss 21882294
dgv6619n71 CNV Gain 21882294
nsv884566 CNV Loss 21882294
dgv6620n71 CNV Gain 21882294
nsv821566 CNV Deletion 20802225
nsv515035 CNV Complex 21397061
nsv819957 CNV Loss 19587683
dgv6621n71 CNV Gain 21882294
dgv6622n71 CNV Gain+Loss 21882294
nsv884617 CNV Gain 21882294
dgv20n31 CNV Duplication 19718026
nsv884626 CNV Loss 21882294
nsv884627 CNV Loss 21882294
dgv6623n71 CNV Loss 21882294
dgv6624n71 CNV Loss 21882294
dgv6625n71 CNV Gain 21882294
nsv823506 CNV Loss 20364138
nsv823507 CNV Loss 20364138
esv32938 CNV Gain 17666407
dgv6626n71 CNV Gain+Loss 21882294
dgv6627n71 CNV Gain 21882294
dgv6628n71 CNV Loss 21882294
dgv6629n71 CNV Loss 21882294
nsv884657 CNV Gain 21882294
dgv6630n71 CNV Gain+Loss 21882294
dgv6631n71 CNV Loss 21882294
nsv823508 CNV Gain 20364138
nsv884663 CNV Gain 21882294
nsv884664 CNV Gain 21882294
nsv285 CNV Loss 15895083
esv2731825 CNV Deletion 23290073
nsv884665 CNV Loss 21882294
nsv471443 CNV Duplication 19718026
nsv510023 CNV Loss 20534489
nsv511870 CNV Loss 21212237
dgv6632n71 CNV Loss 21882294
nsv499146 CNV Loss 21111241
dgv6633n71 CNV Gain 21882294
nsv884671 CNV Gain 21882294
dgv6634n71 CNV Loss 21882294
nsv433379 CNV Gain 18776910
dgv6635n71 CNV Loss 21882294
dgv6636n71 CNV Loss 21882294
nsv884677 CNV Gain 21882294
nsv5248 CNV Insertion 18451855
dgv6637n71 CNV Gain 21882294

Variation tolerance for C4B Gene

Gene Damage Index Score: 0.77; 16.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C4B Gene

Human Gene Mutation Database (HGMD)
C4B
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for C4B Gene

MalaCards: The human disease database

(23) MalaCards diseases for C4B Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
c4b deficiency
  • complement component 4b deficiency
immunodeficiency due to an early component of complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
lupus erythematosus
  • systemic lupus erythematosus
systemic lupus erythematosus
  • lupus nephritis
immune-complex glomerulonephritis
  • immune complex glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards
Search C4B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO4B_HUMAN
  • Complement component 4B deficiency (C4BD) [MIM:614379]: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. {ECO:0000269 PubMed:3265961}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:10092831, ECO:0000269 PubMed:17503323}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Interindividual copy-number variation (CNV) of complement component C4 and associated polymorphisms result in different susceptibilities to SLE. The risk of SLE susceptibility has been shown to be significantly increased among subjects with only two copies of total C4. A high copy number is a protective factor against SLE.

Relevant External Links for C4B

Genetic Association Database (GAD)
C4B
Human Genome Epidemiology (HuGE) Navigator
C4B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C4B
genes like me logo Genes that share disorders with C4B: view

No data available for Genatlas for C4B Gene

Publications for C4B Gene

  1. Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4. (PMID: 11367523) Blanchong C.A. … Yu C.Y. (Int. Immunopharmacol. 2001) 3 4 23 67
  2. High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA's. (PMID: 19062096) Wouters D. … Hamann D. (Mol. Immunol. 2009) 3 23
  3. Genetic deficiency of complement isoforms C4A or C4B predicts improved survival of metastatic renal cell carcinoma. (PMID: 19150565) Zafar G.I. … Ellerhorst J.A. (J. Urol. 2009) 3 23
  4. Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population. (PMID: 19505723) Blasko B. … Szilagyi A. (Mol. Immunol. 2009) 3 23
  5. Smoking and a complement gene polymorphism interact in promoting cardiovascular disease morbidity and mortality. (PMID: 17425651) Arason G.J. … FA1st G. (Clin. Exp. Immunol. 2007) 3 23

Products for C4B Gene

Sources for C4B Gene

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