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C3 (complement component 3)

Identity

Other namesAHUS5
ARMD9
ASP
C3a
C3b
CPAMD1
HEL-S-62p
HGNC (Hugo) C3
LocusID (NCBI) 718
Atlas_Id 886
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6677846 and ends at 6720693 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BCL6 (3q27.3) / C3 (19p13.3)C3 (19p13.3) / ALB (4q13.3)C3 (19p13.3) / DOCK1 (10q26.2)
C3 (19p13.3) / ELK3 (12q23.1)C3 (19p13.3) / FURIN (15q26.1)C3 (19p13.3) / GALNT6 (12q13.13)
C3 (19p13.3) / MT1G (16q13)C3 (19p13.3) / NME2 (17q21.33)C3 (19p13.3) / OXR1 (8q23.1)
C3 (19p13.3) / RABEP1 (17p13.2)C3 (19p13.3) / SCAMP2 (15q24.1)C3 (19p13.3) / SIAE (11q24.2)
C3 (19p13.3) / USP34 (2p15)C3 (19p13.3) / USP38 (4q31.21)CLDN1 (3q28) / C3 (19p13.3)
GRHPR (9p13.2) / C3 (19p13.3)HLA-DRB1 (6p21.32) / C3 (19p13.3)ILF3 (19p13.2) / C3 (19p13.3)
IMMP2L (7q31.1) / C3 (19p13.3)MTCH1 (6p21.2) / C3 (19p13.3)NEAT1 (11q13.1) / C3 (19p13.3)
NOTCH3 (19p13.12) / C3 (19p13.3)PHRF1 (11p15.5) / C3 (19p13.3)PIP5K1C (19p13.3) / C3 (19p13.3)
RPS19BP1 (22q13.1) / C3 (19p13.3)C3 19p13.3 / ELK3 12q23.1C3 19p13.3 / RABEP1 17p13.2
C3 19p13.3 / SIAE 11q24.2ILF3 19p13.2 / C3 19p13.3NOTCH3 19p13.12 / C3 19p13.3
PIP5K1C 19p13.3 / C3 19p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C3   1318
Cards
Entrez_Gene (NCBI)C3  718  complement component 3
AliasesAHUS5; ARMD9; ASP; C3a; 
C3b; CPAMD1; HEL-S-62p
GeneCards (Weizmann)C3
Ensembl hg19 (Hinxton)ENSG00000125730 [Gene_View]  chr19:6677846-6720693 [Contig_View]  C3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125730 [Gene_View]  chr19:6677846-6720693 [Contig_View]  C3 [Vega]
ICGC DataPortalENSG00000125730
TCGA cBioPortalC3
AceView (NCBI)C3
Genatlas (Paris)C3
WikiGenes718
SOURCE (Princeton)C3
Genomic and cartography
GoldenPath hg19 (UCSC)C3  -     chr19:6677846-6720693 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C3  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblC3 - 19p13.3 [CytoView hg19]  C3 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIC3 [Mapview hg19]  C3 [Mapview hg38]
OMIM120700   611378   612925   613779   
Gene and transcription
Genbank (Entrez)AA025232 AI758500 AK094728 AK304071 BC022897
RefSeq transcript (Entrez)NM_000064
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_009557 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)C3
Cluster EST : UnigeneHs.529053 [ NCBI ]
CGAP (NCI)Hs.529053
Alternative Splicing GalleryENSG00000125730
Gene ExpressionC3 [ NCBI-GEO ]   C3 [ EBI - ARRAY_EXPRESS ]   C3 [ SEEK ]   C3 [ MEM ]
Gene Expression Viewer (FireBrowse)C3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)718
GTEX Portal (Tissue expression)C3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01024 (Uniprot)
NextProtP01024  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01024
Splice isoforms : SwissVarP01024 (Swissvar)
PhosPhoSitePlusP01024
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)    ANAPHYLATOXIN_1 (PS01177)    ANAPHYLATOXIN_2 (PS01178)    NTR (PS50189)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd    A2M_comp    A2M_N    A2M_N_2    Anaphylatoxin/fibulin    Anaphylatoxin_comp_syst    Anaphylatoxn_comp_syst_dom    Macroglobln_a2    MacrogloblnA2_CS    MacrogloblnA2_thiol-ester-bond    Netrin_domain    Netrin_module_non-TIMP    Terpenoid_cyclase/PrenylTrfase    TIMP-like_OB-fold   
Domain families : Pfam (Sanger)A2M (PF00207)    A2M_comp (PF07678)    A2M_N (PF01835)    A2M_N_2 (PF07703)    A2M_recep (PF07677)    ANATO (PF01821)    NTR (PF01759)    Thiol-ester_cl (PF10569)   
Domain families : Pfam (NCBI)pfam00207    pfam07678    pfam01835    pfam07703    pfam07677    pfam01821    pfam01759    pfam10569   
Domain families : Smart (EMBL)ANATO (SM00104)  C345C (SM00643)  
DMDM Disease mutations718
Blocks (Seattle)C3
PDB (SRS)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
PDB (PDBSum)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
PDB (IMB)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
PDB (RSDB)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
Structural Biology KnowledgeBase1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
SCOP (Structural Classification of Proteins)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
CATH (Classification of proteins structures)1C3D    1GHQ    1W2S    2A73    2A74    2GOX    2HR0    2I07    2ICE    2ICF    2NOJ    2QKI    2WII    2WIN    2WY7    2WY8    2XQW    2XWB    2XWJ    3D5R    3D5S    3G6J    3L3O    3L5N    3NMS    3OED    3OHX    3OXU    3RJ3    3T4A    4HW5    4HWJ    4I6O    4M76    4ONT    4ZH1   
SuperfamilyP01024
Human Protein AtlasENSG00000125730
Peptide AtlasP01024
HPRD00400
IPIIPI00783987   
Protein Interaction databases
DIP (DOE-UCLA)P01024
IntAct (EBI)P01024
FunCoupENSG00000125730
BioGRIDC3
STRING (EMBL)C3
ZODIACC3
Ontologies - Pathways
QuickGOP01024
Ontology : AmiGOpositive regulation of type IIa hypersensitivity  positive regulation of protein phosphorylation  positive regulation of activation of membrane attack complex  tolerance induction  serine-type endopeptidase activity  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  plasma membrane  proteolysis  fatty acid metabolic process  inflammatory response  immune response  complement activation  complement activation  complement activation, alternative pathway  complement activation, classical pathway  signal transduction  G-protein coupled receptor signaling pathway  blood coagulation  lipid binding  positive regulation of vascular endothelial growth factor production  positive regulation of glucose transport  regulation of triglyceride biosynthetic process  positive regulation of lipid storage  negative regulation of endopeptidase activity  regulation of complement activation  C5L2 anaphylatoxin chemotactic receptor binding  response to magnesium ion  response to estradiol  response to progesterone  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of angiogenesis  cofactor binding  positive regulation of developmental growth  regulation of immune response  response to glucocorticoid  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  blood microparticle  positive regulation of apoptotic cell clearance  
Ontology : EGO-EBIpositive regulation of type IIa hypersensitivity  positive regulation of protein phosphorylation  positive regulation of activation of membrane attack complex  tolerance induction  serine-type endopeptidase activity  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  plasma membrane  proteolysis  fatty acid metabolic process  inflammatory response  immune response  complement activation  complement activation  complement activation, alternative pathway  complement activation, classical pathway  signal transduction  G-protein coupled receptor signaling pathway  blood coagulation  lipid binding  positive regulation of vascular endothelial growth factor production  positive regulation of glucose transport  regulation of triglyceride biosynthetic process  positive regulation of lipid storage  negative regulation of endopeptidase activity  regulation of complement activation  C5L2 anaphylatoxin chemotactic receptor binding  response to magnesium ion  response to estradiol  response to progesterone  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of angiogenesis  cofactor binding  positive regulation of developmental growth  regulation of immune response  response to glucocorticoid  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  blood microparticle  positive regulation of apoptotic cell clearance  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Cells and Molecules involved in local acute inflammatory response [Genes]    Complement Pathway [Genes]    Alternative Complement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]   
Pathways : KEGGPhagosome    Complement and coagulation cascades    Pertussis    Legionellosis    Leishmaniasis    Chagas disease (American trypanosomiasis)    Staphylococcus aureus infection    Tuberculosis    Herpes simplex infection    Viral carcinogenesis    Systemic lupus erythematosus   
NDEx NetworkC3
Atlas of Cancer Signalling NetworkC3
Wikipedia pathwaysC3
Orthology - Evolution
OrthoDB718
GeneTree (enSembl)ENSG00000125730
Phylogenetic Trees/Animal Genes : TreeFamC3
Homologs : HomoloGeneC3
Homology/Alignments : Family Browser (UCSC)C3
Gene fusions - Rearrangements
Fusion: TCGAC3 19p13.3 ELK3 12q23.1 THCA
Fusion: TCGAC3 19p13.3 RABEP1 17p13.2 LGG
Fusion: TCGAC3 19p13.3 SIAE 11q24.2 KIRC
Fusion: TCGAILF3 19p13.2 C3 19p13.3 BRCA
Fusion: TCGANOTCH3 19p13.12 C3 19p13.3 BRCA
Fusion: TCGAPIP5K1C 19p13.3 C3 19p13.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C3
dbVarC3
ClinVarC3
1000_GenomesC3 
Exome Variant ServerC3
ExAC (Exome Aggregation Consortium)C3 (select the gene name)
Genetic variants : HAPMAP718
Genomic Variants (DGV)C3 [DGVbeta]
Mutations
ICGC Data PortalC3 
TCGA Data PortalC3 
Broad Tumor PortalC3
OASIS PortalC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch C3
DgiDB (Drug Gene Interaction Database)C3
DoCM (Curated mutations)C3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C3 (select a term)
intoGenC3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:6677846-6720693  ENSG00000125730
CONAN: Copy Number AnalysisC3 
Mutations and Diseases : HGMDC3
OMIM120700    611378    612925    613779   
MedgenC3
Genetic Testing Registry C3
NextProtP01024 [Medical]
TSGene718
GENETestsC3
Huge Navigator C3 [HugePedia]
snp3D : Map Gene to Disease718
BioCentury BCIQC3
ClinGenC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD718
Chemical/Pharm GKB GenePA25897
Clinical trialC3
Miscellaneous
canSAR (ICR)C3 (select the gene name)
Probes
Litterature
PubMed481 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC3
EVEXC3
GoPubMedC3
iHOPC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:39:28 CEST 2016

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