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

C3 Gene

protein-coding   GIFtS: 71
GCID: GC19M006677

complement component 3
 Explore 116 diseases affiliated with
C3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C3    

Aliases
for C3 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 31 2     Acylation-Stimulating Protein Cleavage Product2
CPAMD11 2 3     C3a Anaphylatoxin2
ARMD91 2 5     Complement C32
C3a1 2     Complement Component C32
C3b1 2     Complement Component C3a2
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 12 3     Complement Component C3b2
AHUS52 5     Prepro-C31
ASP2     

External Ids:    HGNC: 13181   Entrez Gene: 7182   Ensembl: ENSG000001257307   OMIM: 1207005   UniProtKB: P010243   

Export aliases for C3 gene to outside databases

Previous GC identifers: GC19M006772 GC19M006617 GC19M006628 GC19M006440


Summaries
for C3 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 C3:
Complement component C3 plays a central role in the activation of complement system. Its activation is required for
both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial
infection. (provided by RefSeq, Feb 2009)

UniProtKB/Swiss-Prot: CO3_HUMAN, P01024
Function: C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the
central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via
its reactive thioester, to cell surface carbohydrates or immune aggregates
Function: Derived from proteolytic degradation of complement C3, C3a 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
Function: Acylation stimulating protein (ASP): adipogenic hormone that stimulates triglyceride (TG) synthesis and
glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to
stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for GPR77. Promotes the
phosphorylation, ARRB2-mediated internalization and recycling of GPR77

summary for C3:
The complement system is a biochemical pathway involved in both innate and adaptive immune responses. There
are four main functions of the complement system; lysis of microorganisms, promotion of phagocytosis,
triggering inflammation and immune clearance. There are three pathways that can activate the complement
system; the classical complement pathway (in response to IgG- or IgM-antigen complexes), the alternative
complement pathway (spontaneous activation) and the mannose-binding lectin pathway (in response to lectin
residues on pathogen cell surface membranes). All three pathway generate variants of C3 convertase, which
cleaves C3 into C3a and C3b. C3a and C3b activate a series of further cleavage events that activates the
complement cascade. This leads to immune defence responses such as degranulation of mast cells, increasing
vascular permeability and initiation of the membrane attack pathway. Deregulation of the complement system
would be extremely damaging to the host, so it is tightly regulated by complement control proteins. These
regulatory proteins are found in much higher concentrations that complement proteins themselves and prevent
complement system activation in 'self' tissues. The complement system has been implicated in many autoimmune
disorders, including systemic lupus erythematosus, multiple sclerosis and arthritis, and more recently has
been suggested to have a pathophysiological role in Alzheimer's and other neurodegenerative disorders.

Gene Wiki entry for C3 (Complement component 3)


Genomic Views
for C3 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_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3 gene promoter:
         PPAR-gamma1   AP-1   ATF-2   STAT3   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): C3 promoter sequence
   Search SABiosciences Chromatin IP Primers for C3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3


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

Entrez Gene cytogenetic band: 19p13.3-p13.2   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3-p13.2

C3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006677:  view genomic region     (about GC identifiers)

Start:
 6,677,846 bp from pter      End:
 6,720,662 bp from pter
Size:
 42,817 bases      Orientation:
 minus strand

Proteins
for C3 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: CO3_HUMAN, P01024 (See protein sequence)
Recommended Name: Complement C3 precursor  
Size: 1663 amino acids; 187148 Da
Subunit: C3 precursor is first processed by the removal of 4 Arg residues, forming two chains, beta and alpha, linked
by a disulfide bond. C3 convertase activates C3 by cleaving the alpha chain, releasing C3a anaphylatoxin and
generating C3b (beta chain + alpha' chain). C3dg interacts with CR2 (via the N-terminal Sushi domains 1 and 2). During
pregnancy, C3dg exists as a complex (probably a 2:2:2 heterohexamer) with AGT and the proform of PRG2. Interacts with
VSIG4. C3b interacts with herpes simplex virus 1 (HHV-1) and herpes simplex virus 2 (HHV-2) envelope glycoprotein C;
this interaction inhibits the activation of the complement system. Interacts with S.aureus immunoglobulin-binding
protein sbi, this prevents interaction between C3dg and CR2. Interacts with S.aureus fib. Interacts (both C3a and ASP)
with GPR77; the interaction occurs with higher affinity for ASP, enhancing the phosphorylation and activation of
GPR77, recruitment of ARRB2 to the cell surface and endocytosis of GRP77
Subcellular location: Secreted
Caution: According to PubMed:21527715, the interaction surface between C3 and CR2 reported in PubMed:11387479 is
artifactual and can be ascribed to the presence of zinc acetate in the buffer
6/32 PDB 3D structures from and Proteopedia for C3 (see all 32):
1C3D (3D)        1GHQ (3D)        1W2S (3D)        2A73 (3D)        2A74 (3D)        2GOX (3D)    
Secondary accessions: A7E236

Explore the universe of human proteins at neXtProt for C3: NX_P01024

Post-translational modifications:

  • C3b is rapidly split in two positions by factor I and a cofactor to form iC3b (inactivated C3b) and C3f which is
    • released. Then iC3b is slowly cleaved (possibly by factor I) to form C3c (beta chain + alpha' chain fragment 1 +
    alpha' chain fragment 2), C3dg and C3f. Other proteases produce other fragments such as C3d or C3g. C3a is further
    processed by carboxypeptidases to release the C-terminal arginine residue generating the acylation stimulating protein
    (ASP). Levels of ASP are increased in adipocytes in the postprandial period and by insulin and dietary chylomicrons1
  • Phosphorylation sites are present in the extracellular medium1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01024

    • C3 Protein expression data from MOPED and PaxDb:    About this image 
    C3 Protein Expression
    REFSEQ proteins: NP_000055.2  
    ENSEMBL proteins: 
     ENSP00000245907  
    Reactome Protein details: P01024
    Human Recombinant Protein Products for C3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for C3 (Complement Component C3a)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: C3
    OriGene Protein Over-expression Lysate: C3
    OriGene Custom Protein Services for C3 
    GenScript Custom Purified and Recombinant Proteins Services for C3
    Novus Biologicals C3 Proteins
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for C3
    Uscn Proteins for C3

    Gene Ontology (GO): 4 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--
    GO:0070062extracellular vesicular exosome IDA--

    C3 for ontologies           About GeneDecksing



    C3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of C3
    R&D Systems Antibodies for C3 (Complement Component C3a, Complement Component C3d)
    OriGene Antibodies: C3
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    Novus Biologicals C3 Antibodies
    Abcam antibodies for C3 
    Uscn Antibodies for C3
    ThermoFisher Antibodies for C3

    Assay Products for C3: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript Custom Assay Services for C3
    Enzo Life Sciences assays for C3
    Uscn ELISAs and CLIAs for C3

    Protein Domains /
    Families
    for C3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    C3 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 P01024

    ProtoNet protein and cluster: P01024

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


    UniProtKB/Swiss-Prot: CO3_HUMAN, P01024
    Similarity: Contains 1 anaphylatoxin-like domain
    Similarity: Contains 1 NTR domain


    Function
    for C3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO3_HUMAN, P01024
    Function: C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the
    central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via
    its reactive thioester, to cell surface carbohydrates or immune aggregates
    Function: Derived from proteolytic degradation of complement C3, C3a 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
    Function: Acylation stimulating protein (ASP): adipogenic hormone that stimulates triglyceride (TG) synthesis and
    glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to
    stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for GPR77. Promotes the
    phosphorylation, ARRB2-mediated internalization and recycling of GPR77

         Genatlas biochemistry entry for C3:
    complement component 3,glycoprotein,180kDa,activated by classical or alternative pathway with two forms,C3a
    (anaphylatoxin),C3b (opsonin)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity IEA--
    GO:0005102receptor binding TAS9164946
    GO:0005515protein binding IPI16530040
    GO:0031715C5L2 anaphylatoxin chemotactic receptor binding IDA15833747
         
    C3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C3:
     Increased gamma-H2AX phosphory 

         15/21 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for C3) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  muscle  nervous system 

    C3 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for C3: C3tm1Crr C3tm1Pkna C3tm1Hrc
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C3 

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate C3:
    hsa-miR-127-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C3 (see all 7)
    OriGene shRNA RFP: C3
    OriGene siRNA: C3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C3
    Sirion Biotech Custom design and validation of potent shRNA sequences against C3 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for C3
    Sirion Biotech Customized adenovirus for overexpression of C3 
    Sirion Biotech Customized adenovirus for potent knockdown of C3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): C3 (NM_182962)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3 

    Cell Line
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    Search LifeMap BioReagents cell lines for C3
    Sirion Biotech Customized stable knockdown cell line services for C3 
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3


    Pathways & Interactions
    for C3 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 - 5/18 super-pathways (see all 18) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_Alternative complement pathway
    		Immune response_Alternative complement pathway1.00
    		Immune response_Lectin induced complement pathway0.56
    		Immune response Alternative complement pathway1.00
    		Immune response Lectin Induced complement pathway0.56
    2Class A/1 (Rhodopsin-like receptors)
    		Class A/1 (Rhodopsin-like receptors)1.00
    		Peptide ligand-binding receptors0.61
    		GPCR ligand binding0.75
    		G alpha (i) signalling events0.44
    3Classical Complement Pathway
    		Classical Complement Pathway1.00
    		Complement Activation, Classical Pathway0.65
    		Complement Pathway0.75
    		Lectin Induced Complement Pathway0.56
    4Immune System
    		Immune System1.00
    		Innate Immune System0.46
    		Adaptive Immune System0.59
    5Activation of C3 and C5
    		Activation of C3 and C51.00
    		Alternative complement activation0.33
    		Regulation of Complement cascade0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for C3
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C3
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway
    Phagocytosis of Microbes

    3 GeneGo (Thomson Reuters) Pathways for C3
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C3 
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    5/16        Reactome Pathways for C3 (see all 16)
        Signal Transduction
    Regulation of Complement cascade
    Activation of C3 and C5
    Immune System
    GPCR downstream signaling


    5/8         Kegg Pathways  (Kegg details for C3) (see all 8):
        Phagosome
    Complement and coagulation cascades
    Pertussis
    Leishmaniasis
    Chagas disease (American trypanosomiasis)


    C3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/201 Interacting proteins for C3 (P010241, 2, 3 ENSP000002459074) via UniProtKB, MINT, STRING, and/or I2D (see all 201)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C5P010312, 3, ENSP000002236424MINT-8143443 I2D: score=2 STRING: ENSP00000223642
    CFIP051563, ENSP000003781304I2D: score=3 STRING: ENSP00000378130
    CR2P200233, ENSP000003560244I2D: score=3 STRING: ENSP00000356024
    ITGAXP207023, ENSP000002682964I2D: score=3 STRING: ENSP00000268296
    CD46P155293, ENSP000003138754I2D: score=2 STRING: ENSP00000313875
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001798positive regulation of type IIa hypersensitivity IEA--
    GO:0001934positive regulation of protein phosphorylation IDA15833747
    GO:0001970positive regulation of activation of membrane attack complex IEA--
    GO:0006631fatty acid metabolic process IEA--
    GO:0006954inflammatory response IEA--

    C3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for C3 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

    C3 for compounds           About GeneDecksing

    EMD Millipore small molecules for C3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for C3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Compstatin C3-binding protein, inhibits complement activation [206645-99-0]
    Compstatin control peptideControl peptide for Compstatin (Cat. No. 2585)[301544-78-5]

    2 DrugBank Compounds for C3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Intravenous ImmunoglobulinIg alpha-2 chain C region (see all 3)9007-83-4targetbinder17351760 20441428 17911465
    S-Hydroxycysteine-- --target--17139284 17016423 10592235

    10/30 Novoseek chemical compound relationships for C3 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 72.2 7 1431125 (1), 11037838 (1), 11487475 (1), 19687018 (1) (see all 6)
    triacylglycerol 61.6 36 8582446 (4), 9555951 (4), 8492712 (3), 8068623 (3) (see all 17)
    fatty acid 46.6 34 11108729 (3), 14703506 (3), 8574269 (2), 20416070 (1) (see all 19)
    glucose 42.8 100 9059512 (8), 8492712 (6), 9130021 (5), 15043507 (3) (see all 36)
    lipid 37 49 11836332 (3), 16302015 (3), 17372315 (2), 19022911 (2) (see all 26)
    oleic acid 33.4 10 18004729 (2), 8492712 (1), 9034195 (1), 14703506 (1)
    cholesterol 32.8 42 11714853 (3), 18206145 (2), 18075846 (2), 16302015 (2) (see all 16)
    neopterin 27.5 3 8925815 (1), 7702398 (1), 7874897 (1)
    glycerol 3-phosphate 13.9 2 8582446 (1), 1943492 (1)
    steroid 9.97 4 18615583 (2), 18671285 (1)

    Search CenterWatch for drugs/clinical trials and news about C3 / CO3 

    Transcripts
    for C3 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, Sirion Biotech, 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 C3 gene: 
    NM_000064.2  

    Unigene Cluster for C3:

    Complement component 3
    Hs.529053  [show with all ESTs]
    Unigene Representative Sequence: BC063852
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000245907(uc002mfm.3)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate C3:
    hsa-miR-127-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C3 (see all 7)
    OriGene shRNA RFP: C3
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C3
    Sirion Biotech Custom design and validation of potent shRNA sequences against C3 
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): C3 (NM_182962)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C3

    Additional cDNA sequence: 

    AK094728.1 AK304071.1 AY927485.1 BC022897.1 BC063852.1 BC150179.1 BC150200.1 BC150299.1 
    K02765.1 

    24/36 DOTS entries (see all 36):

    DT.95200471  DT.100805138  DT.95212039  DT.100642455  DT.95288012  DT.92469022  DT.100865720  DT.92469028 
    DT.121504652  DT.100642643  DT.95365044  DT.100668443  DT.86844052  DT.92068615  DT.100668436  DT.92469035 
    DT.121504611  DT.100668437  DT.40256655  DT.95347307  DT.95356787  DT.95365047  DT.95365050  DT.121504605 

    24/731 AceView cDNA sequences (see all 731):

    AV654754 AI093026 NM_172014 AW368852 AA344123 BI823457 T53801 AA343382 
    CK429838 K02765 T40182 AL531738 NM_000064 R91326 BQ652533 CR619237 
    CD607286 BQ939823 AA345141 AV687336 CB131043 AA343624 BU191787 AI207565 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for C3 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                          -                                         -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35a · 35b ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42a · 42b
    SP1:                                -                                         -     -                             -                                 
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                                                                                
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for C3

    Expression
    for C3 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

    C3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    C3 Expression
    About this image

    C3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    Umbilical CordUmbilical VeinsUmbilical Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3

    SOURCE GeneReport for Unigene cluster: Hs.529053

    UniProtKB/Swiss-Prot: CO3_HUMAN, P01024
    Tissue specificity: Plasma. The acylation stimulating protein (ASP) is expressed in adiopocytes and released into the
    plasma during both the fasting and postprandial periods

        SABiosciences Expression via Pathway-Focused PCR Arrays including C3 (see all 9): 
              Innate & Adaptive Immune Responses in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              NFKB Signaling Targets in human mouse rat
              Obesity in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3

    Orthologs
    for C3 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 C3 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves C31 complement component 3 62.54(n)
    54.17(a)    		   396370  NM_205405.1  NP_990736.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 53(a)
    53(a)
    (see all 3)    		 1 ↔ many
    1 ↔ many
    (see all 3)    		 2(75812185-75855491)
    2(77547966-77615105)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BX851366.12   -- 72.79(n)    BX851366.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC055564.12   -- 75.23(n)   321046  BC055564.1 


    ENSEMBL Gene Tree for C3 (if available)
    TreeFam Gene Tree for C3 (if available) 

    Paralogs
    for C3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C3 gene
    C52  A2ML12  C4B2  C4A2  CPAMD82  CD1092  A2M2  PZP2  
    6 SIMAP similar genes for C3 using alignment to 5 protein entries:     CO3_HUMAN (see all proteins):
    C4B    LOC100293534    ZA    C4A    C5    OVOS2

    C3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C3
    PGOHUM00000250593


    Genomic Variants
    for C3 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: CO3_HUMAN, P01024
    Polymorphism: There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively
    frequent in Caucasians, less common in Black Americans, extremely rare in Orientals


    10/1269 NCBI SNPs in C3 are shown (see all 1269)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs10472861,2
    		C,Fnon-pathogenic6713262(-) GAACCC/TCCGAG 2 P L mis1 ese39Minor allele frequency- T:0.16MN NS NA EU 6199
    rs1118602711,2
    		F--6677403(+) GGCGAG/CAGAAC 1 -- ds50012Minor allele frequency- C:0.50CSA 4
    rs45132111,2
    		C,F,H--6677475(+) ACCACC/TATGGC 1 -- ds50018Minor allele frequency- T:0.03NS EA WA 618
    rs1409098341,2
    		--6677493(+) ACCTAA/TGTAAC 1 -- ds50010--------
    rs1497784081,2
    		--6677587(+) TGAGGA/TTGCCG 1 -- ds50010--------
    rs115695851,2
    		C,F--6677799(-) CCAGCC/TGCCTC 1 -- ds50016Minor allele frequency- T:0.05NS NA CSA WA 209
    rs1478951421,2
    		--6677800(+) AGGCGC/GCTGGG 1 -- ds50010--------
    rs1130748801,2
    		C--6677844(+) AGACAC/G/TGTGAG 1 -- ds50011CSA 1
    rs1116179321,2
    		C--6677845(+) GACACC/G/TTGAGA 1 -- ds50011CSA 1
    rs343704811,2
    		C--6677963(-) CGAAGA/GGAACC 2 E G mis11Minor allele frequency- G:0.01NA 74

    HapMap Linkage Disequilibrium report for C3 (6677846 - 6720662 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for C3
         2 CNVs: 5341 7223
         2 Indels: 41415 45812
    Human Gene Mutation Database (HGMD): C3

    Locus Specific Mutation Databases (LSDB): C3

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C3

    Disorders / Diseases
    for C3 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
    C3 for disorders           About GeneDecksing

    OMIM gene information: 120700   
    OMIM disorders: 611378  612925  
    UniProtKB/Swiss-Prot: CO3_HUMAN, P01024
  • Defects in C3 are the cause of complement component 3 deficiency (C3D) [MIM:613779]. A rare defect of the
    • complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective
    opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic
    rashes, lupus-like syndrome and membranoproliferative glomerulonephritis
  • Genetic variation in C3 is associated with susceptibility to age-related macular degeneration type 9 (ARMD9)
    • [MIM:611378]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the
    developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of
    protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as
    Bruch membrane
  • Defects in C3 are a cause of susceptibility to hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925].
    • An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic
    hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast
    to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent
    progression to end-stage renal disease. Note=Susceptibility to the development of atypical hemolytic uremic syndrome
    can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other
    genes may play a role in modifying the phenotype
  • Note=Increased levels of C3 and its cleavage product ASP, are associated with obesity, diabetes and coronary
    • heart disease. Short-term endurance training reduces baseline ASP levels and subsequently fat storage

    20/116 diseases for C3 (see all 116):    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    hemolytic-uremic syndrome    atypical hemolytic-uremic syndrome
    multiple sclerosis    paroxysmal nocturnal hemoglobinuria    lipoprotein lipase deficiency    arthritis
    capillary leak syndrome    age related macular degeneration    otitis media    autoimmune disease of central nervous system
    prader-willi syndrome    temporal lobe epilepsy    complement deficiency    macular degeneration
    familial combined hyperlipidemia    non-hodgkin lymphoma    afibrinogenemia    pemphigus vulgaris

    6 diseases from the University of Copenhagen DISEASES database for C3:
    C3 deficiency     Nephritis     Systemic lupus erythematosus     Age related macular degeneration
    Proteinuria     Vascular disease

    10/37 Novoseek disease relationships for C3 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    afibrinogenemia 65.7 1 1966986 (1)
    complement deficiency 65.6 3 18667363 (1)
    hyperlipidemia familial combined 55.9 3 11979403 (2), 11348883 (1)
    lipodystrophy 51.2 2 12942374 (1)
    glomerulonephritis membranoproliferative 48.8 1 8395463 (1)
    insulin resistance 48.1 19 17595349 (3), 16302015 (2), 18206145 (1), 12679444 (1) (see all 10)
    obesity 47.2 31 15853826 (3), 8574269 (2), 1885258 (2), 14564690 (2) (see all 16)
    dyslipidemia 38.8 7 18253759 (1), 11836332 (1), 20173020 (1), 20069551 (1) (see all 6)
    meningococcal diseases 38.2 1 9844044 (1)
    insulin sensitivity 33.1 10 11397716 (1), 12679444 (1), 15809665 (1), 18702682 (1) (see all 8)

    Genatlas disease: C3
    glomerulonephritis,pyogenic recurrent infections,lupus systemic syndrome

    Genetic Association Database (GAD): C3
    Human Genome Epidemiology (HuGE) Navigator: C3 (142 documents)

    Export disorders for C3 gene to outside databases

    Publications
    for C3 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 C3 gene, integrated from 9 sources (see all 591):
    (articles sorted by number of sources associating them with C3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion. (PubMed id 7961791)1, 2, 9 Singer L....Wetsel R.A. (1994)
    2. Acylation stimulating protein but not complement C3 associates with metabolic syndrome components in Chinese children and adolescents. (PubMed id 18805911)1, 2, 9 Wamba P.C....Cianflone K. (2008)
    3. C5L2 is a functional receptor for acylation-stimulating protein. (PubMed id 15833747)1, 2, 9 Kalant D....Cianflone K. (2005)
    4. Acylation-stimulating protein (ASP): structure-function determinants of cell surface binding and triacylglycerol synthetic activity. (PubMed id 10432298)1, 2, 9 Murray I....Cianflone K. (1999)
    5. Coordinated release of acylation stimulating protein (ASP) and triacylglycerol clearance by human adipose tissue in vivo in the postprandial period. (PubMed id 9555951)1, 2, 9 Saleh J....Frayn K.N. (1998)
    6. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PubMed id 15278436)1, 4, 9 Hasegawa K....Suzuki Y. (2004)
    7. [Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes] (PubMed id 11785295)1, 4, 9 Sergeev A.S....Perel'man M.I. (2001)
    8. A structural basis for Staphylococcal complement subversion: X-ray structure of the complement-binding domain of Staphylococcus aureus protein Sbi in complex with ligand C3d. (PubMed id 21055811)1, 2 Clark E.A.... van den Elsen J.M. (2011)
    9. A crystal structure of the complex between human complement receptor 2 and its ligand C3d. (PubMed id 21527715)1, 2 van den Elsen J.M. and Isenman D.E. (2011)
    10. Delineation of the complement receptor type 2-C3d com plex by site-directed mutagenesis and molecular docking. (PubMed id 20951140)1, 2 Shaw C.D....Hannan J.P. (2010)

    External Searches for C3 gene

    (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)

    Genome Databases showing C3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 718 HGNC: 1318 AceView: C3andTNFSF14 Ensembl:ENSG00000125730 euGenes: HUgn718
    ECgene: C3 Kegg: 718 H-InvDB: C3

    Other Databases showing C3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C3 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 C3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C3 Genetics and Cytogenetics in Oncology and Haematology
    C3basehttp://bioinf.uta.fi/C3base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/C3
    Wikipedia http://en.wikipedia.org/wiki/Complement_c3
    SeattleSNPshttp://pga.gs.washington.edu/data/c3/

    Intellectual Property
    for C3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C3 gene:
    Search GeneIP for patents involving C3

    Licensable Technologies for C3 gene:
    Weizmann Institute:Synthetic Peptides for Treatment of Allergies
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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