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C4A Gene

protein-coding   GIFtS: 61
GCID: GC06P031993

Complement Component 4A (Rodgers Blood Group)

(Previous name: complement component 4A)
  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)
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Aliases
Complement Component 4A (Rodgers Blood Group)1 2     C4A32
Acidic Complement C42 3     C4A42
CO42 3     C4A62
CPAMD22 3     RG2
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 22 3     Acidic C42
C4AD2 5     C4A Anaphylatoxin2
C4S2 5     Complement C4-A2
Complement Component 4A1     Rodgers Form Of C42
C42     EC 2.1.1.1448
C4A22     EC 2.7.118

External Ids:    HGNC: 13231   Entrez Gene: 7202   Ensembl: ENSG000002447317   OMIM: 1208105   UniProtKB: P0C0L43   

Export aliases for C4A gene to outside databases

Previous GC identifers: GC06P032011 GC06Pd32003 GC06U900438 GC06P032091 GC06P032076 GC06P032092 GC06P031951 GC06P031952 GC06P031954


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C4A Gene:
This gene encodes the acidic 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 and type I diabetes
mellitus. 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. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for C4A Gene:
C4A (complement component 4A (Rodgers blood group)) is a protein-coding gene. Diseases associated with C4A include c4a deficiency, and felty's syndrome. GO annotations related to this gene include endopeptidase inhibitor activity. An important paralog of this gene is A2M.

UniProtKB/Swiss-Prot: CO4A_HUMAN, P0C0L4
Function: Non-enzymatic component of 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 C4A 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NT_167247.2  NC_000006.12  NC_018917.2  NT_007592.16  NT_167245.2  NT_167248.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C4A gene promoter:
         RFX1   STAT1   Pax-5   STAT1beta   NF-kappaB   STAT1alpha   Max   NF-kappaB1   Pax-4a   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C4A


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

C4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031993:  view genomic region     (about GC identifiers)

Start:
31,949,801 bp from pter      End:
31,970,458 bp from pter
Size:
20,658 bases      Orientation:
plus strand

2 alternative locations:
Chr6+,NT_167248 3,243,624-3,264,248      Chr6+,NT_167245 3,235,415-3,256,039     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CO4A_HUMAN, P0C0L4 (See protein sequence)
Recommended Name: Complement C4-A precursor  
Size: 1744 amino acids; 192785 Da
Subunit: Circulates in blood as a disulfide-linked trimer of an alpha, beta and gamma chain
Sequence caution: Sequence=AAB59537.1; Type=Miscellaneous discrepancy; Note=During cDNA synthesis, the 5' end has
been inverted (PubMed:3838531); Sequence=BAE06071.1; Type=Erroneous initiation; Note=Translation N-terminally
shortened;
3 PDB 3D structures from and Proteopedia for C4A:
1HZF (3D)        4FXG (3D)        4FXK (3D)    
Secondary accessions: A6H8M8 A6NHJ5 A7E2V2 B0QZR6 B0V2C8 B2RUT6 B7ZVZ6 P01028 P78445 Q13160
Q13906 Q14033 Q14835 Q4LE82 Q5JNX2 Q5JQM8 Q6P4R1 Q6U2E5 Q6U2E8 Q6U2F0 Q6U2F3 Q6U2F4 Q6U2F6
Q6U2F8 Q6U2G0 Q96EG2 Q96SA8 Q9NPK5 Q9UIP5
Alternative splicing: 2 isoforms:  P0C0L4-1   P0C0L4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C4A: NX_P0C0L4

Explore proteomics data for C4A at MOPED

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
  • N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan1
  • Glycosylation2 at Asn226, Asn862, Thr1244, Asn1328, Asn1391
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for C4A (P0C0L4)
     DLGCGPG  GPGGGDS 


    See C4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001239133.1  NP_009224.2  

    ENSEMBL proteins: 
     ENSP00000396688   ENSP00000420212   ENSP00000446217  
    Reactome Protein details: P0C0L4

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

    Selected InterPro protein domains (see all 14):
     IPR008993 TIMP-like_OB-fold
     IPR001599 Macroglobln_a2
     IPR011626 A2M_comp
     IPR002890 A2M_N
     IPR009048 A-macroglobulin_rcpt-bd

    Graphical View of Domain Structure for InterPro Entry P0C0L4

    ProtoNet protein and cluster: P0C0L4

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


    UniProtKB/Swiss-Prot: CO4A_HUMAN, P0C0L4
    Similarity: Contains 1 anaphylatoxin-like domain
    Similarity: Contains 1 NTR domain


    C4A 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO4A_HUMAN, P0C0L4
    Function: Non-enzymatic component of 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 C4A:
    complement component 4A,primarily expressed in liver and to a lesser extent in immune cells,including the ZA
    transcript,embedded in intron 35 and overlapping exon 36 (?and others) in the same orientation,expressed
    specifically in adrenals,under the control of a putative promoter,embedded in intron 35 and containing a
    potential binding site for steroidogenic factor 1

         Enzyme Numbers (IUBMB): EC 2.1.1.1442 EC 2.7.112

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
         
    C4A for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CO4A_HUMAN, P0C0L4: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005886plasma membrane TAS--
    GO:0072562blood microparticle IDA--

    C4A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for C4A About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Classical Complement Pathway0.00
    Immune response Classic complement pathway0.56
    Activation of C3 and C50.00
    Regulation of Complement cascade0.48
    Lectin Induced Complement Pathway0.00
    Complement Pathway0.33
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    3Creation of C4 and C2 activators
    Initial triggering of complement0.85
    Complement cascade0.68
    4Allograft rejection
    Allograft Rejection0.86
    5RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C4A
        Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    2 GeneGo (Thomson Reuters) Pathways for C4A
        Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    3 BioSystems Pathways for C4A
        Complement Activation, Classical Pathway
    SIDS Susceptibility Pathways
    Allograft Rejection

    3 Reactome Pathways for C4A
        Regulation of Complement cascade
    Activation of C3 and C5
    Initial triggering of complement


    4 Kegg Pathways  (Kegg details for C4A):
        Complement and coagulation cascades
    Pertussis
    Staphylococcus aureus infection
    Systemic lupus erythematosus


    C4A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C4A
    Interactions:

        GeneGlobe Interaction Network for C4A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for C4A (P0C0L43 ENSP000003966884) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    CST3P010343, ENSP000003661244I2D: score=2 STRING: ENSP00000366124
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    APOA2P026523, ENSP000003569694I2D: score=1 STRING: ENSP00000356969
    About this table

    Gene Ontology (GO): 5 biological process terms:    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--

    C4A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C4A (CO4A)

    1 DrugBank Compound for C4A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Intravenous ImmunoglobulinIg alpha-2 chain C region (see all 3)9007-83-4targetbinder17351760 20441428 17911465

    Selected Novoseek inferred chemical compound relationships for C4A gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 71.1 1 11487475 (1)
    bamhi 46.9 1 1975115 (1)
    steroid 29.8 14 10207042 (1), 10343159 (1), 19135723 (1), 14604014 (1) (see all 11)
    hind iii 24.8 2 2044237 (1), 7911834 (1)
    agarose 16.8 3 17095005 (1), 12175635 (1), 15166556 (1)
    txb2 11.5 3 9702994 (1), 9456104 (1)
    threonine 10.6 4 10207042 (1), 14604014 (1), 10859342 (1)
    serine 6.91 4 10207042 (1), 14604014 (1), 10859342 (1)
    endotoxin 0 1 8181284 (1)
    oxygen 0 1 1417490 (1)



    C4A for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C4A gene (2 alternative transcripts): 
    NM_001252204.1  NM_007293.2  

    Unigene Cluster for C4A:

    Complement component 4A (Rodgers blood group)
    Hs.534847  [show with all ESTs]
    Unigene Representative Sequence: BC151204
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428956(uc011doy.2 uc011doz.2) ENST00000498271 ENST00000467749
    ENST00000467948 ENST00000460841 ENST00000483974 ENST00000496659 ENST00000480795
    ENST00000470365 ENST00000460060 ENST00000471624 ENST00000463034 ENST00000491876
    ENST00000469975(uc003nyz.4) ENST00000465724 ENST00000477424 ENST00000490663
    ENST00000537134(uc011dpa.1)
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    Additional mRNA sequence: 

    AB209989.1 AK054612.1 AK293191.1 AK293364.1 BC012372.2 BC016933.1 BC063289.1 BC144546.1 
    BC146673.1 BC146849.1 BC151204.1 BC171786.1 K02403.1 S81585.1 V00502.1 

    24 DOTS entries:

    DT.100666199  DT.75104153  DT.91786872  DT.91813681  DT.100666198  DT.95377177  DT.91812587  DT.100666203 
    DT.100702725  DT.97813835  DT.100666196  DT.100666197  DT.91694536  DT.95377266  DT.95351220  DT.91647342 
    DT.100045911  DT.121361307  DT.121361984  DT.100043437  DT.121361391  DT.95377119  DT.121361728  DT.95377491 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C4A Expression
    About this image


    C4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Eye (Sensory Organs)
             Retina
     
     Thyroid (Endocrine System)
     
     Ovary (Reproductive System)
     
     Liver (Hepatobiliary System)
    C4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C4A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534847

    UniProtKB/Swiss-Prot: CO4A_HUMAN, P0C0L4
    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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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for C4A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C4a5
    C4b1
    complement component 4A (Rodgers blood group)5
    complement component 4B (Chido blood group)1
    79.01(n)1
    76.44(a)1
      17 (18.37 cM)5
    122681  NM_009780.21  NP_033910.21 
     348090925 
    chicken
    (Gallus gallus)
    Aves C41 complement 4 51.99(n)
    39.64(a)
      426611  NM_001077233.1  NP_001070701.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    44(a)
    1 → many
    2(198340313-198430254)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c4a1 complement component 4A (Rodgers blood group) 49.53(n)
    41.99(a)
      100135012  NM_001113684.1  NP_001107156.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-8k3.21 si:dkey-8k3.2 46.95(n)
    37.13(a)
      794635  XM_001334604.3  XP_001334640.1 


    ENSEMBL Gene Tree for C4A (if available)
    TreeFam Gene Tree for C4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C4A gene
    C4B1 2  A2M2  C52  C32  A2ML12  PZP2  CPAMD82  CD1092  
    6 SIMAP similar genes for C4A using alignment to 5 protein entries:     CO4A_HUMAN (see all proteins):
    C4B_2    ZA    C4B    C3P1    OVOS2    C3

    C4A 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CO4A_HUMAN, P0C0L4: 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). C4A6 allotype is deficient in
    hemolytic activity. Allotype C4A13 is infrequent


    Selected SNPs for C4A (see all 35)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1896309211,2
    C--31964584(+) TTACTC/TGTGGT 2 -- int10--------
    rs2010161301,2,,4
    C--31964785(+) AGGCTG/TCGGCC 16 A S mis10--------
    rs352772271,2,4
    ----see VAR_0691572 mis40--------
    rs22294051,2,4
    ----see VAR_0691562 mis40--------
    rs283570751,2,4
    ----see VAR_0019932 mis40--------
    VAR_0019884
    ----see VAR_0019882 P L mis40--------
    rs1471620521,2,4
    ----see VAR_0691582 mis40--------
    VAR_0019874
    ----see VAR_0019872 R W mis40--------
    rs178746541,2,4
    ----see VAR_0691592 mis40--------
    VAR_0197794
    ----see VAR_0197792 D N mis40--------

    HapMap Linkage Disequilibrium report for C4A (31949801 - 31970458 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C4A (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): C4A
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C4A
    DNA2.0 Custom Variant and Variant Library Synthesis for C4A

    (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.)
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    OMIM gene information: 120810   
    OMIM disorders: 614380  614374  152700  
    UniProtKB/Swiss-Prot: CO4A_HUMAN, P0C0L4
  • Complement component 4A deficiency (C4AD) [MIM:614380]: 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
  • 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

  • Selected diseases for C4A (see all 63):    
    About MalaCards
    c4a deficiency    felty's syndrome    lupus erythematosus    c4b deficiency
    adult respiratory distress syndrome    c2 deficiency    21-hydroxylase deficiency    sle susceptibility
    herpes gestationis    mouth disease    complement component 4, partial deficiency of    membranoproliferative glomerulonephritis
    capillary leak syndrome    immunoglobulin alpha deficiency    pediatric systemic lupus erythematosus    complement deficiency
    systemic lupus erythematosus    behcet's disease    juvenile rheumatoid arthritis    congenital adrenal hyperplasia

    3 diseases from the University of Copenhagen DISEASES database for C4A:
    Systemic lupus erythematosus     hand, foot and mouth disease     Complement deficiency

    C4A for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for C4A gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 57.9 15 19279649 (2), 7911834 (2), 1401069 (2), 12480675 (1) (see all 12)
    adrenal hyperplasia congenital 54.6 1 1473541 (1)
    feltys syndrome 52.7 1 1978638 (1)
    autoimmune diseases 45.9 3 18680512 (1), 16098595 (1), 16403222 (1)
    iga deficiency 43 3 1817567 (3)
    protein deficiency 37.1 3 1545698 (2)
    lupus erythematosus 37.1 4 1545698 (2), 16987709 (1)
    nephropathy iga 36.3 8 1362783 (2), 8105396 (2), 8832595 (1)
    diabetes mellitus insulin-dependent 28.4 2 1975115 (1), 1352685 (1)
    nephritis 25.5 7 8105396 (2), 8832595 (1), 1362783 (1)

    Genetic Association Database (GAD): C4A
    Human Genome Epidemiology (HuGE) Navigator: C4A (38 documents)

    Export disorders for C4A 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)
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    PubMed articles for C4A gene, integrated from 10 sources (see all 274):
    (articles sorted by number of sources associating them with C4A)
        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. (Int. Immunopharmacol. 2001)
    2. The coding sequence of the hemolytically inactive C4A6 allotype of human complement component C4 reveals that a single arginine to tryptophan substitution at beta-chain residue 458 is the likely cause of the defect. (PubMed id 1573268)1, 2, 9 Anderson M.J.... Campbell R.D. (J. Immunol. 1992)
    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. (Mol. Immunol. 2009)
    4. Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency. (PubMed id 19137635)1, 4, 9 Guerra-Junior G....De Mello M.P. (Clin. Exp. Immunol. 2009)
    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. (Clin. Exp. Immunol. 2001)
    6. Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupus erythematosus in southwest Han Chinese. (PubMed id 12480675)1, 4, 9 Man X.Y....Zhang Y.P. (Ann. Rheum. Dis. 2003)
    7. Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes. (PubMed id 10092831)1, 2, 9 Lokki M.L.... Colten H.R. (J. Immunol. 1999)
    8. Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. (PubMed id 8473511)1, 2, 9 Barba G.... Schneider P.M. (J. Clin. Invest. 1993)
    9. Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex. (PubMed id 8012361)1, 2, 9 Sargent C.A.... Campbell R.D. (Hum. Mol. Genet. 1994)
    10. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 720 HGNC: 1323 Ensembl:ENSG00000244731 euGenes: HUgn720 ECgene: C4A Kegg: 720
    H-InvDB: C4A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for C4A Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=chrg

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C4A gene:
    Search GeneIP for patents involving C4A

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



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