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Aliases for C3 Gene

Aliases for C3 Gene

  • Complement C3 2 3 5
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 1 3 4
  • Complement Component C3a 2 3
  • Complement Component C3b 2 3
  • Complement Component 3 2 3
  • C3a Anaphylatoxin 2 3
  • Prepro-C3 2 3
  • CPAMD1 3 4
  • Epididymis Secretory Sperm Binding Protein Li 62p 3
  • Acylation-Stimulating Protein Cleavage Product 3
  • HEL-S-62p 3
  • AHUS5 3
  • ARMD9 3
  • ASP 3
  • C3a 3
  • C3b 3

External Ids for C3 Gene

Previous GeneCards Identifiers for C3 Gene

  • GC19M006772
  • GC19M006617
  • GC19M006628
  • GC19M006440

Summaries for C3 Gene

Entrez Gene Summary for C3 Gene

  • 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. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]

GeneCards Summary for C3 Gene

C3 (Complement C3) is a Protein Coding gene. Diseases associated with C3 include C3 Deficiency and Hemolytic Uremic Syndrome, Atypical 5. Among its related pathways are Toxoplasmosis and Immune response Lectin induced complement pathway. GO annotations related to this gene include receptor binding and C5L2 anaphylatoxin chemotactic receptor binding. An important paralog of this gene is C4B.

UniProtKB/Swiss-Prot for C3 Gene

  • 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.

  • Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.

  • C3-beta-c: Acts as a chemoattractant for neutrophils in chronic inflammation.

  • Acylation stimulating protein: 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 C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750).

Tocris Summary for C3 Gene

  • 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.

Gene Wiki entry for C3 Gene

Additional gene information for C3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C3 Gene

Genomics for C3 Gene

Regulatory Elements for C3 Gene

Enhancers for C3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H006674 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +55.5 55456 1 HDGF PKNOX1 YBX1 ZNF143 ZNF207 FOS ZNF548 ATF7 RUNX3 NCOA1 TNFSF14 DENND1C C3 TRIP10 GPR108 XAB2 ZNF557 DUS3L KHSRP STXBP2
GH19H006708 0.6 FANTOM5 22.1 +21.7 21694 0 MTA2 MTA1 ZNF512 IKZF1 PRDM1 C3 GC19P006699 ENSG00000276980
GH19H007380 1.1 FANTOM5 ENCODE 5.6 -650.2 -650244 0 ARID4B ZNF2 RAD21 ZNF121 ZNF143 ZNF654 ZNF280D ZNF362 YY2 ZEB2 ARHGEF18 C3 ZNF557 STXBP2 PNPLA6 XAB2 EVI5L GC19P007378 ENSG00000268861
GH19H006728 1.5 Ensembl ENCODE dbSUPER 0.7 +0.8 840 3 HDGF PKNOX1 FOXA2 ARID4B YY1 ZNF121 SLC30A9 ZNF143 ATF7 SP5 GPR108 C3 ENSG00000276980
GH19H006717 1.6 Ensembl ENCODE dbSUPER 0.4 +9.4 9404 6 HDGF PKNOX1 FOXA2 MLX ARID4B YBX1 DMAP1 ZNF2 YY1 SLC30A9 GPR108 ZNF557 FLJ25758 MBD3L5 MBD3L3 LOC390877 DUS3L ACSBG2 XAB2 TNFSF14
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C3 on UCSC Golden Path with GeneCards custom track

Genomic Location for C3 Gene

Chromosome:
19
Start:
6,677,704 bp from pter
End:
6,730,562 bp from pter
Size:
52,859 bases
Orientation:
Minus strand

Genomic View for C3 Gene

Genes around C3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3 Gene

Proteins for C3 Gene

  • Protein details for C3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01024-CO3_HUMAN
    Recommended name:
    Complement C3
    Protein Accession:
    P01024
    Secondary Accessions:
    • A7E236

    Protein attributes for C3 Gene

    Size:
    1663 amino acids
    Molecular mass:
    187148 Da
    Quaternary structure:
    • 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 C5AR2; the interaction occurs with higher affinity for ASP, enhancing the phosphorylation and activation of C5AR2, recruitment of ARRB2 to the cell surface and endocytosis of GRP77.

    Three dimensional structures from OCA and Proteopedia for C3 Gene

neXtProt entry for C3 Gene

Post-translational modifications for C3 Gene

  • 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 chylomicrons.
  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Asn85, posLast=939939, and posLast=16171617
  • Modification sites at PhosphoSitePlus

Other Protein References for C3 Gene

No data available for DME Specific Peptides for C3 Gene

Domains & Families for C3 Gene

Gene Families for C3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for C3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C3: view

No data available for UniProtKB/Swiss-Prot for C3 Gene

Function for C3 Gene

Molecular function for C3 Gene

GENATLAS Biochemistry:
complement component 3,glycoprotein,180kDa,activated by classical or alternative pathway with two forms,C3a (anaphylatoxin),C3b (opsonin)
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. In chronic inflammation, acts as a chemoattractant for neutrophils (By similarity). It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.
UniProtKB/Swiss-Prot Function:
C3-beta-c: Acts as a chemoattractant for neutrophils in chronic inflammation.
UniProtKB/Swiss-Prot Function:
Acylation stimulating protein: 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 C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2 (PubMed:8376604, PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747, PubMed:16333141, PubMed:19615750).

Phenotypes From GWAS Catalog for C3 Gene

Gene Ontology (GO) - Molecular Function for C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0004866 endopeptidase inhibitor activity IEA --
GO:0005102 receptor binding TAS 9164946
GO:0005515 protein binding IPI 7483825
GO:0031715 C5L2 anaphylatoxin chemotactic receptor binding IDA 15833747
genes like me logo Genes that share ontologies with C3: view
genes like me logo Genes that share phenotypes with C3: view

Human Phenotype Ontology for C3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C3 Gene

MGI Knock Outs for C3:
  • C3 tm1Crr
  • C3 tm1Hrc
  • C3 tm1Pkna
  • C3 tm1.1(KOMP)Vlcg

Animal Model Products

CRISPR Products

miRNA for C3 Gene

miRTarBase miRNAs that target C3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for C3
  • Applied Biological Materials Clones for C3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C3 Gene

Localization for C3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
lysosome 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IDA,IEA 16502470
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with C3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C3 Gene

Pathways & Interactions for C3 Gene

genes like me logo Genes that share pathways with C3: view

Gene Ontology (GO) - Biological Process for C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001798 positive regulation of type IIa hypersensitivity IEA --
GO:0001934 positive regulation of protein phosphorylation IDA 15833747
GO:0001970 positive regulation of activation of membrane attack complex IEA --
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with C3: view

No data available for SIGNOR curated interactions for C3 Gene

Drugs & Compounds for C3 Gene

(24) Drugs for C3 Gene - From: DrugBank, PharmGKB, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Immune Globulin Human Approved, Investigational Pharma Target, binder 0
Zinc Approved Pharma Target 2359
Clozapine Approved Pharma Antagonist Antipsychotic medication 120
Cyclo-Tetrametavanadate Experimental Pharma Target 0

(18) Additional Compounds for C3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Compstatin
206645-99-0
NDT 9513727
439571-48-9
PMX 53
219639-75-5
PMX 53c

(5) Tocris Compounds for C3 Gene

Compound Action Cas Number
Compstatin C3-binding protein, inhibits complement activation 206645-99-0
NDT 9513727 Potent, selective human C5a receptor antagonist 439571-48-9
PMX 205 Potent C5a receptor peptide antagonist 514814-49-4
PMX 53 Potent C5a receptor antagonist 219639-75-5
PMX 53c Negative control for PMX 53 (Cat. No. 5473)
genes like me logo Genes that share compounds with C3: view

Transcripts for C3 Gene

Unigene Clusters for C3 Gene

Complement component 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for C3
  • Applied Biological Materials Clones for C3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C3 Gene

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:
SP6:
SP7:

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:
SP6:
SP7:

Relevant External Links for C3 Gene

GeneLoc Exon Structure for
C3
ECgene alternative splicing isoforms for
C3

Expression for C3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C3 Gene

This gene is overexpressed in Liver (x20.3).

Protein differential expression in normal tissues from HIPED for C3 Gene

This gene is overexpressed in Synovial fluid (16.2), Plasma (15.9), and Lavage (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C3 Gene



Protein tissue co-expression partners for C3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C3 Gene:

C3

SOURCE GeneReport for Unigene cluster for C3 Gene:

Hs.529053

mRNA Expression by UniProt/SwissProt for C3 Gene:

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

Evidence on tissue expression from TISSUES for C3 Gene

  • Liver(5)
  • Blood(4.8)
  • Bone marrow(4.3)
  • Lung(4.3)
  • Nervous system(4.3)
  • Intestine(3.6)
  • Kidney(3.6)
  • Heart(3.5)
  • Thyroid gland(3.3)
  • Eye(3.2)
  • Gall bladder(3.1)
  • Muscle(2.9)
  • Skin(2.8)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Stomach(2.7)
  • Pancreas(2.4)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C3: view

Primer Products

Orthologs for C3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C3 33 34
  • 98.77 (n)
cow
(Bos Taurus)
Mammalia C3 33 34
  • 81.14 (n)
dog
(Canis familiaris)
Mammalia C3 33 34
  • 80.09 (n)
rat
(Rattus norvegicus)
Mammalia C3 33
  • 79.8 (n)
mouse
(Mus musculus)
Mammalia C3 33 16 34
  • 79.06 (n)
oppossum
(Monodelphis domestica)
Mammalia C3 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C3 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3 33
  • 63.12 (n)
C3D 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c3 33
  • 58.83 (n)
Str.2323 33
zebrafish
(Danio rerio)
Actinopterygii LOC100331428 33
  • 53.68 (n)
C3 (5 of 9) 34
  • 45 (a)
OneToMany
c3a 34
  • 43 (a)
OneToMany
c3b 34
  • 43 (a)
OneToMany
c3c 34
  • 43 (a)
OneToMany
C3 (9 of 9) 34
  • 42 (a)
OneToMany
C3 (7 of 9) 34
  • 41 (a)
OneToMany
C3 (3 of 9) 34
  • 39 (a)
OneToMany
C3 (1 of 9) 34
  • 36 (a)
OneToMany
C3 (8 of 9) 34
  • 36 (a)
OneToMany
-- 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
ManyToMany
CSA.4097 34
  • 21 (a)
ManyToMany
Species where no ortholog for C3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C3 Gene

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

Paralogs for C3 Gene

Paralogs for C3 Gene

(6) SIMAP similar genes for C3 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for C3 Gene

genes like me logo Genes that share paralogs with C3: view

Variants for C3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C3 Gene

CO3_HUMAN-P01024
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.

Sequence variations from dbSNP and Humsavar for C3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs117793540 Likely benign, Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] 6,707,118(+) CCGCC(A/G)CAGCT reference, missense
rs121909583 other, Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] 6,709,754(-) GGCCC(A/G)GGTGG reference, missense
rs121909584 other, Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] 6,693,033(-) CATCG(C/T)CATCG reference, missense
rs121909585 other, Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] 6,692,971(-) AGCCC(A/G)ACGGG reference, missense
rs147859257 other, Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] 6,718,135(+) CAGCT(G/T)GTGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C3 Gene

Variant ID Type Subtype PubMed ID
dgv14e196 CNV duplication 17116639
dgv6235n54 CNV loss 21841781
esv2265092 CNV deletion 18987734
esv2677585 CNV deletion 23128226
esv2718067 CNV deletion 23290073
esv2718068 CNV deletion 23290073
esv2718069 CNV deletion 23290073
esv2718070 CNV deletion 23290073
esv33172 CNV gain 17666407
esv3555949 CNV deletion 23714750
esv3583214 CNV loss 25503493
esv5110 CNV loss 18987735
nsv1121545 CNV deletion 24896259
nsv1123213 CNV deletion 24896259
nsv1135066 CNV deletion 24896259
nsv1135521 CNV deletion 24896259
nsv470120 CNV loss 18288195
nsv578462 CNV loss 21841781
nsv578463 CNV gain 21841781

Variation tolerance for C3 Gene

Residual Variation Intolerance Score: 0.458% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C3 Gene

Human Gene Mutation Database (HGMD)
C3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C3

Disorders for C3 Gene

MalaCards: The human disease database

(53) MalaCards diseases for C3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
c3 deficiency
  • complement component 3 deficiency
hemolytic uremic syndrome, atypical 5
  • atypical hemolytic-uremic syndrome with c3 anomaly
macular degeneration, age-related, 9
  • age related macular degeneration 9
c3-related atypical hemolytic-uremic syndrome
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards
Search C3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO3_HUMAN
  • 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. {ECO:0000269 PubMed:7961791}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hemolytic uremic syndrome atypical 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. {ECO:0000269 PubMed:18796626, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
  • Macular degeneration, age-related, 9 (ARMD9) [MIM:611378]: A form of age-related macular degeneration, 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. {ECO:0000269 PubMed:17634448, ECO:0000269 PubMed:24036952}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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.

Genatlas disease for C3 Gene

glomerulonephritis,pyogenic recurrent infections,lupus systemic syndrome

Relevant External Links for C3

Genetic Association Database (GAD)
C3
Human Genome Epidemiology (HuGE) Navigator
C3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C3
genes like me logo Genes that share disorders with C3: view

Publications for C3 Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga TK … Smith RJ (Human mutation 2010) 3 4 45 60
  2. Acylation stimulating protein but not complement C3 associates with metabolic syndrome components in Chinese children and adolescents. (PMID: 18805911) Wamba PC … Cianflone K (European journal of endocrinology 2008) 3 4 22 60
  3. Complement C3 variant and the risk of age-related macular degeneration. (PMID: 17634448) Yates JR … Genetic Factors in AMD Study Group (The New England journal of medicine 2007) 3 4 45 60
  4. C5L2 is a functional receptor for acylation-stimulating protein. (PMID: 15833747) Kalant D … Cianflone K (The Journal of biological chemistry 2005) 3 4 22 60
  5. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PMID: 15278436) Hasegawa K … Suzuki Y (Human genetics 2004) 3 22 45 60

Products for C3 Gene

  • Addgene plasmids for C3

Sources for C3 Gene

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