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

C4B Gene

protein-coding   GIFtS: 63
GCID: GC06P031982

complement component 4B (Chido blood group)

(Previous name: complement component 4B )
 Explore 43 diseases affiliated with
C4B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C4B    

Aliases
for C4B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Complement Component 4B (Chido Blood Group)1 2     C4B122
CO41 2 3     C4B22
CPAMD31 2 3     C4B52
C4F1 2 5     C4BD2
C4B11 2     Chido Form Of C42
C4B31 2     Complement C4-B2
CH1 2     Complement C4B1a2
Basic Complement C42 3     EC 2.1.1.1448
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 32 3     EC 2.7.118
Complement Component 4B1     

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


Summaries
for C4B gene

(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:
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)

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)


Genomic Views
for C4B 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  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 plasmid: C4B 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

3 alternative locations:
Chr6+,ALT_REF_LOCI_3 31,943,056-31,990,052      Chr6+,ALT_REF_LOCI_2 31,937,353-31,990,829      Chr6+,ALT_REF_LOCI_5 31,973,839-31,994,463     

Proteins
for C4B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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 plasma1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P0C0L5

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

    C4B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001002029.3  
    ENSEMBL proteins: 
     ENSP00000415941   ENSP00000391933  
    Reactome Protein details: P0C0L5
    Human Recombinant Protein Products: 
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    Uscn Proteins for C4B

    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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    Uscn ELISAs and CLIAs for C4B

    Protein Domains /
    Families
    for C4B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    C4B for domains           About GeneDecksing

    5/14 InterPro domains/families (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 families:
    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


    Function
    for C4B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity IEA--


    C4B for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out C4btm1Crr for C4B
         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


    Pathways & Interactions
    for C4B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of C3 and C5
    		Activation of C3 and C51.00
    		C4b binding protein binds C4bC2a0.33
    		Regulation of Complement cascade0.38
    		C4b binding protein displaces C2a0.33
    2Immune response_Classical complement pathway
    		Immune response_Classical complement pathway1.00
    		Immune response Classic complement pathway0.98
    3Immune System
    		Immune System1.00
    		Innate Immune System0.46
    4Immune response_Alternative complement pathway
    		Immune response Lectin Induced complement pathway0.56
    		Immune response_Lectin induced complement pathway0.56
    5Cleavage of Alpha-1-Microglobulin
    		Initial triggering of complement0.60
    		Complement cascade0.47

    Pathway sources
    See GeneCards unified pathways
    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

    5/8        Reactome Pathways for C4B (see all 8)
        C4b binding protein binds C4bC2a
    C4b binding protein displaces C2a
    Regulation of Complement cascade
    Activation of C3 and C5
    Complement cascade


    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)

    5/18 Interacting proteins for C4B (P0C0L53 ENSP000004159414) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C4BPAP040033, ENSP000003560374I2D: score=1 STRING: ENSP00000356037
    C2P066813, ENSP000002993674I2D: score=1 STRING: ENSP00000299367
    C1QAENSP000003637734STRING: ENSP00000363773
    C1QBENSP000003139674STRING: ENSP00000313967
    C1QCENSP000003637684STRING: ENSP00000363768
    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



    Drugs & Compounds
    for C4B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for C4B

    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 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 

    Transcripts
    for C4B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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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    Inhib. RNA
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    Additional cDNA 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):

    BX325111 AV683751 AI114576 BQ721495 BF725744 K00830 CA395495 BU781767 
    BU786893 CA390570 BM705554 CA397907 CA397553 BE464243 AI369705 AI064894 
    CB216863 AV683759 AV647058 T68166 CA394408 AW473474 BM699796 BQ892413 

    GeneLoc Exon Structure


    Expression
    for C4B gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACACAGCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C4B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4B

    Orthologs
    for C4B gene

    (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 chordates.

    Orthologs for C4B gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves C41 complement C4 52.57(n)
    40.42(a)    		   426611  NM_001077233.1  NP_001070701.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 45(a)
    		 1 → many
    		 2(198340313-198419774)
    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 


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

    Paralogs
    for C4B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C4B gene
    C4A1 2  C52  A2ML12  CPAMD82  CD1092  A2M2  C32  PZP2  
    7 SIMAP similar genes for C4B using alignment to 11 protein entries:     CO4B_HUMAN (see all proteins):
    ZA    LOC100293534    C4A    CPAMD8    C3P1    C3
    OVOS2

    C4B for paralogs           About GeneDecksing



    Genomic Variants
    for C4B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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. 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)


    10/44 NCBI SNPs in C4B are shown (see all 44)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1397348111,2
    		--31980992(+) AGGTCA/GCCCCA 2 -- us2k10--------
    rs49590211,2
    		C,F,--31981146(+) CCCCTC/TTCCTG 2 -- us2k19Minor allele frequency- T:0.09NA WA CSA 21
    rs1473859651,2
    		F--31994782(+) CCAGTC/TCAGCT 2 V syn11Minor allele frequency- T:0.02NA 2250
    rs792990661,2
    		C--31996598(-) GAGAGA/GGGTCC 2 P L mis10--------
    rs561575481,2
    		C,--31996614(+) ATACAC/TAGGAG 2 H syn10--------
    rs27464141,2
    		C,F,A,--31996966(-) ATGAGT/CTTGCC 4 /N /S mis15Minor allele frequency- C:0.04NA WA EU 868
    rs783854161,2
    		C--31997054(-) ACAGGC/GGCCTT 4 A syn11Minor allele frequency- G:0.00EU 503
    rs2008881631,2
    		F--31997059(+) GCCTGT/CGGACC 4 /A /V mis11Minor allele frequency- C:0.01EU 501
    rs1126832151,2
    		C,F--31997068(+) CCTGCT/GCGGTG 4 /R /L mis11Minor allele frequency- G:0.01EU 447
    rs2000291451,2
    		F--31997069(+) CTGCTC/GGGTGT 4 R syn11Minor allele frequency- G:0.01EU 447

    HapMap Linkage Disequilibrium report for C4B (31982539 - 32003195 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 20 variations for C4B
         15/20 CNVs (see all 20): 36512 36511 31278 69401 36508 37564 32785 36509 64474 59325 36510 0599 69400 69402 36507
    Human Gene Mutation Database (HGMD): C4B
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C4B
    DNA2.0 Custom Variant and Variant Library Synthesis for C4B

    Disorders / Diseases
    for C4B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C4B for disorders           About GeneDecksing

    OMIM gene information: 120820    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO4B_HUMAN, P0C0L5
  • Defects in C4B are a cause of susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. A chronic,
    • inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints,
    kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune
    system. Note=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
  • Defects in C4B are the cause of 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

    20/43 diseases for C4B (see all 43):    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    sudden infant death syndrome    hemolytic-uremic syndrome
    21-hydroxylase deficiency    atypical hemolytic-uremic syndrome    immunoglobulin alpha deficiency    adrenal hyperplasia
    sle susceptibility    angioedema    hereditary angioedema    juvenile rheumatoid arthritis
    contact dermatitis    felty's syndrome    haemophilus influenzae    complement deficiency
    myocardial infarction    acute myocardial infarction    renal cell carcinoma    rheumatoid arthritis

    10 Novoseek 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

    Publications
    for C4B gene

    (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 241):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. (PubMed id 17503323)1, 2 Yang Y....Yu C.Y. (2007)
    8. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)
    9. C4d DNA sequence of complement C4B93 and recombination mechanisms for its generation. (PubMed id 14989716)1, 2 Lopez-Goyanes A.... Paz-Artal E. (2004)
    10. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (2004)

    External Searches for C4B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing C4B gene

    (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

    Other Databases showing C4B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C4B gene

    (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

    Intellectual Property
    for C4B gene

    (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

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