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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C4B Gene

protein-coding   GIFtS: 62
GCID: GC06P031982

Complement Component 4B (Chido Blood Group)

(Previous name: complement component 4B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Complement Component 4B (Chido Blood Group)1 2     C4B32
Basic Complement C42 3     C4B52
CO42 3     C4BD2
CPAMD32 3     C4B_22
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 32 3     CH2
C4F2 5     Chido Form Of C42
Complement Component 4B1     Complement C4-B2
C4B12     Complement C4B1a2
C4B122     EC 2.1.1.1448
C4B22     EC 2.7.118

External Ids:    HGNC: 13241   Entrez Gene: 7212   Ensembl: ENSG000002243897   OMIM: 1208205   UniProtKB: P0C0L53   

Export aliases for C4B gene to outside databases

Previous GC identifers: GC06P032012 GC06P031720 GC06P032054 GC06P032090 GC06P032060 GC06P031949 GC06P031736


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 c7 deficiency, and pediatric systemic lupus erythematosus, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement and Coagulation Cascades. GO annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is A2M.

UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
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
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

Gene Wiki entry for C4B (Complement component 4B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C4B gene promoter:
         GR   Sp1   p53   AP-1   GR-beta   SREBP-1c   SREBP-1b   SREBP-1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC4B promoter sequence
   Search SABiosciences Chromatin IP Primers for C4B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

C4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031982:  view genomic region     (about GC identifiers)

Start:
31,982,539 bp from pter      End:
32,003,195 bp from pter
Size:
20,657 bases      Orientation:
plus strand

4 alternative locations:
Chr6+,NT_113891.2 3,459,590-3,473,846      Chr6+,NT_167247 3,362,383-3,383,040      Chr6+,NT_167245 3,268,155-3,282,411     
Chr6+,NT_167249 3,315,282-3,335,906     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5 (See protein sequence)
Recommended Name: Complement C4-B precursor  
Size: 1744 amino acids; 192751 Da
Subunit: Circulates in blood as a disulfide-linked trimer of alpha, beta and gamma chains
Subcellular location: Secreted
Sequence caution: Sequence=AAA99717.1; Type=Erroneous gene model prediction;
Secondary accessions: A2BHY4 P01028 P78445 Q13160 Q13906 Q14033 Q14835 Q6U2E9 Q6U2G1 Q6U2I5
Q6U2L1 Q6U2L7 Q6U2L9 Q6U2M5 Q6VCV8 Q96SA7 Q9NPK5 Q9UIP5

Explore the universe of human proteins at neXtProt for C4B: NX_P0C0L5

Explore proteomics data for C4B at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P0C0L5

  • 2 DME Specific Peptides for C4B (P0C0L5)
     DLGCGPG  GPGGGDS 

    C4B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C4B Protein Expression
    REFSEQ proteins: NP_001002029.3  
    ENSEMBL proteins: 
     ENSP00000415941   ENSP00000391933  
    Reactome Protein details: P0C0L5
    Human Recombinant Protein Products for C4B: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--

    C4B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bloodgroup: Blood group antigens
    complement: Complement system

    5/14 InterPro protein domains (see all 14):
     IPR008993 TIMP-like_OB-fold
     IPR019742 MacrogloblnA2_CS
     IPR001599 Macroglobln_a2
     IPR000020 Anaphylatoxin/fibulin
     IPR011626 A2M_comp

    Graphical View of Domain Structure for InterPro Entry P0C0L5

    ProtoNet protein and cluster: P0C0L5

    5 Blocks protein domains:
    IPB001134 Netrin
    IPB001599 Alpha-2-macroglobulin
    IPB001840 Anaphylatoxin domain signature
    IPB002890 Alpha-2-macroglobulin
    IPB009048 Alpha-macroglobulin


    UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
    Similarity: Contains 1 anaphylatoxin-like domain
    Similarity: Contains 1 NTR domain


    C4B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO4B_HUMAN, P0C0L5
    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
    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

         Genatlas biochemistry entry for C4B:
    complement component 4B,including the ZB transcript in the same orientation,complexing with C2 to form the C3/C5
    convertase,classical pathway,see RCA@

         Enzyme Numbers (IUBMB): EC 2.1.1.1442 EC 2.7.112

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
         
    C4B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for C4B:
     Cell division defect  Increased G2M DNA content 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for C4b):
     cardiovascular system  digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  renal/urinary system 

    C4B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out C4btm1Crr for C4B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for C4B 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for C4B About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Lectin Induced complement pathway0.56
    Immune response Classical complement pathway0.52
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    3Classical Complement Pathway
    Complement Activation, Classical Pathway0.68
    4Alcoholism
    Systemic lupus erythematosus0.34
    5Staphylococcus aureus infection
    Staphylococcus aureus infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for C4B
        Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway


    2 GeneGo (Thomson Reuters) Pathways for C4B
        Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C4B
        Complement Activation, Classical Pathway
    SIDS Susceptibility Pathways

    5/6        Reactome Pathways for C4B (see all 6)
        Regulation of Complement cascade
    Activation of C3 and C5
    Complement cascade
    Immune System
    Initial triggering of complement


    4         Kegg Pathways  (Kegg details for C4B):
        Complement and coagulation cascades
    Pertussis
    Staphylococcus aureus infection
    Systemic lupus erythematosus


    C4B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C4B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/22 Interacting proteins for C4B (P0C0L53 ENSP000004159414) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206372P066813, ENSP000003728534I2D: score=1 STRING: ENSP00000372853
    ENSG00000231543P066813, ENSP000004079614I2D: score=1 STRING: ENSP00000407961
    C2P066813, ENSP000002993674I2D: score=1 STRING: ENSP00000299367
    ENSG00000204364P066813I2D: score=1 
    ENSG00000226560P066813I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response IEA--
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway IEA--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    C4B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    C4B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C4B (CO4B)

    1 DrugBank Compound for C4B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Intravenous ImmunoglobulinIg alpha-2 chain C region (see all 3)9007-83-4targetbinder17351760 20441428 17911465

    8 Novoseek inferred chemical compound relationships for C4B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 36.4 5 11090879 (1), 11532284 (1), 16532521 (1), 17548110 (1) (see all 5)
    heparin 19.2 8 2136880 (3), 9626699 (2), 10408373 (2), 10383431 (1)
    steroid 16.2 3 19505723 (1), 2315306 (1), 1489553 (1)
    calcium 4.13 1 2147688 (1)
    threonine 3.12 1 16532521 (1)
    agarose 0 1 17095005 (1)
    zinc 0 1 2139734 (1)
    carbohydrates 0 2 8948435 (1), 1729169 (1)

    Search CenterWatch for drugs/clinical trials and news about C4B / CO4B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C4B gene: 
    NM_001002029.3  

    Unigene Cluster for C4B:

    Complement component 4B (Chido blood group)
    Hs.720022  [show with all ESTs]
    Unigene Representative Sequence: NM_001002029
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435363(uc011dpd.2 uc011dpe.2) ENST00000490071 ENST00000485543
    ENST00000461632 ENST00000478438 ENST00000474912 ENST00000486992 ENST00000485263
    ENST00000478388 ENST00000468936 ENST00000463249 ENST00000468237(uc003nzd.4)
    ENST00000496065 ENST00000473957 ENST00000496560 ENST00000425700(uc021yvg.1 uc011dpf.1)

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    Additional mRNA sequence: 

    AK304564.1 K02404.1 

    12 DOTS entries:

    DT.100666199  DT.91786872  DT.91813681  DT.100702725  DT.75104153  DT.95377177  DT.100666197  DT.121361307 
    DT.121361310  DT.121361391  DT.95377491  DT.97813835 

    24/168 AceView cDNA sequences (see all 168):

    NM_007293 CD624032 AL040918 BU786893 AI064894 AI114576 NM_001002029 T68166 
    AV645983 BQ721495 CD624030 BM705554 BQ635909 AI369705 K02404 BU734841 
    CA397553 K02403 AA931823 NM_000592 CA390570 CA397907 AA336194 CB216863 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C4B expression in normal human tissues (normalized intensities)      C4B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACACAGCCT
    C4B Expression
    About this image


    C4B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Testis (Reproductive System)

    See C4B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C4B

    SOURCE GeneReport for Unigene cluster: Hs.720022

    UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for C4B gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C4b1 , 5 complement component 4B (Chido blood group)1, 5 79.05(n)1
    76.79(a)1
      17 (18.29 cM)5
    122681  NM_009780.21  NP_033910.21 
     347283805 
    chicken
    (Gallus gallus)
    Aves C41 complement C4 52.57(n)
    40.42(a)
      426611  NM_001077233.1  NP_001070701.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    C56
    Uncharacterized protein
    45(a)
    15(a)
    1 ↔ many
    possible ortholog
    2(198340313-198430254)
    AAWZ02038773(1221-8229)
    African clawed frog
    (Xenopus laevis)
    Amphibia D78003.12   -- 76.16(n)    D78003.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7946351 complement C4-like 46.46(n)
    36.9(a)
      794635  XM_001334604.2  XP_001334640.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta TepII6
    TepI6
    (see all 6)
    Thiolester containing protein I
    (see all 6)
    20(a)
    19(a)
    (see all 6)
    possible ortholog
    possible ortholog
    (see all 6)
    2L(7693800-7701585)
    2L(15888639-15893811)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C4B gene
    C4A1 2  A2M2  C52  C32  A2ML12  PZP2  CPAMD82  CD1092  
    7 SIMAP similar genes for C4B using alignment to 9 protein entries:     CO4B_HUMAN (see all proteins):
    ZA    C4A    C4B_2    CPAMD8    C3P1    C3
    OVOS2

    C4B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
    Polymorphism: 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)


    10/29 SNPs in C4B are shown (see all 29)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0237304
    ----see VAR_0237302 T A mis40--------
    VAR_0237314
    ----see VAR_0237312 G D mis40--------
    VAR_0237354
    ----see VAR_0237352 R L mis40--------
    VAR_0691604
    ----see VAR_0691602 P L mis40--------
    VAR_0237324
    ----see VAR_0237322 S N mis40--------
    VAR_0237344
    ----see VAR_0237342 A V mis40--------
    VAR_0691614
    ----see VAR_0691612 I F mis40--------
    rs1473859651,2
    F--31994782(+) CCAGTC/TCAGCT 2 V syn11Minor allele frequency- T:0.02NA 2250
    rs1464066501,2
    ----31985595(+) GAACAC/GAGTGT 1 -- int10--------
    rs1469244641,2
    ----31995320(+) CACCCA/GAACCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for C4B (31982539 - 32003195 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/68 variations for C4B (see all 68):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731825CNV Deletion23290073
    nsv821566CNV Deletion20802225
    nsv471443CNV Duplication19718026
    dgv20n31CNV Duplication19718026
    nsv5248CNV Insertion18451855
    nsv511870CNV Loss21212237
    nsv884665CNV Loss21882294
    dgv6631n71CNV Loss21882294
    dgv6632n71CNV Loss21882294
    dgv6635n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): C4B
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C4B
    DNA2.0 Custom Variant and Variant Library Synthesis for C4B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120820    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
  • 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. 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
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/41 diseases for C4B (see all 41):    About MalaCards
    c7 deficiency    pediatric systemic lupus erythematosus    immunoglobulin alpha deficiency    21-hydroxylase deficiency
    juvenile rheumatoid arthritis    angioedema    hereditary angioedema    vitiligo
    hemolytic-uremic syndrome    complement deficiency    systemic lupus erythematosus    atypical hemolytic-uremic syndrome
    lupus erythematosus    sudden infant death syndrome    cerebrovascular disease    uremia
    contact dermatitis    vaccinia    proliferative vitreoretinopathy    lupus nephritis


    C4B for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for C4B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 48.6 3 15998580 (1), 16771861 (1), 15294999 (1)
    angioedema, hereditary 40 2 17229465 (2)
    autoimmune diseases 37.8 1 14604014 (1)
    sudden infant death syndrome 28.9 1 8194566 (1)
    vitiligo 23.1 2 1997215 (1), 1469300 (1)
    autoimmunity 22.2 1 14719377 (1)
    cardiovascular diseases 0 3 19287146 (1), 19505723 (1)
    stroke 0 3 17425651 (1), 19287146 (1)
    renal disease 0 1 15294999 (1)
    multiple sclerosis 0 1 7707091 (1)

    Genetic Association Database (GAD): C4B
    Human Genome Epidemiology (HuGE) Navigator: C4B (37 documents)

    Export disorders for C4B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C4B gene, integrated from 9 sources (see all 248):
    (articles sorted by number of sources associating them with C4B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4. (PubMed id 11367523)1, 2, 9 Blanchong C.A....Yu C.Y. (2001)
    2. C4d DNA sequences of two infrequent human allotypes (C4A13 and C4B12) and the presence of signal sequences enhancing recombination. (PubMed id 9759862)1, 2, 9 Martinez-Quiles N.... Arnaiz-Villena A. (1998)
    3. High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA's. (PubMed id 19062096)1, 4, 9 Wouters D....Hamann D. (2009)
    4. Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations. (PubMed id 15998580)1, 4, 9 Ittiprasert W....Kitiyanant Y. (2005)
    5. Importance of the alpha 3-fragment of complement C4 for the binding with C4b-binding protein. (PubMed id 1699796)1, 2, 9 Hessing M.... Iwanaga S. (1990)
    6. Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population. (PubMed id 19505723)1, 4, 9 Blasko B.... Szilagyi A. (2009)
    7. Smoking and a complement gene polymorphism interact in promoting cardiovascular disease morbidity and mortality. (PubMed id 17425651)1, 4, 9 Arason G.J....Fust G. (2007)
    8. Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE). (PubMed id 11168010)1, 4, 9 Dragon-Durey M.A....Weiss L. (2001)
    9. Frequencies of certain complement protein alleles and serum levels of anti-heat-shock protein antibodies in cerebrovascular diseases. (PubMed id 11062289)1, 4, 9 Kramer J....Fust G. (2000)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 721 HGNC: 1324 AceView: C4B Ensembl:ENSG00000224389 euGenes: HUgn721
    ECgene: C4B Kegg: 721 H-InvDB: C4B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C4B Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=chrg

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C4B gene:
    Search GeneIP for patents involving C4B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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