Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C3 (complement component 3)

Identity

Other namesAHUS5
ARMD9
ASP
C3a
C3b
CPAMD1
HGNC (Hugo) C3
LocusID (NCBI) 718
Location 19p13.3
Location_base_pair Starts at 6677846 and ends at 6720662 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)C3
Ensembl (Hinxton)ENSG00000125730 [Gene_View]  chr19:6677846-6720662 [Contig_View]  C3 [Vega]
ICGC DataPortalENSG00000125730
cBioPortalC3
AceView (NCBI)C3
Genatlas (Paris)C3
WikiGenes718
SOURCE (Princeton)NM_000064
Genomic and cartography
GoldenPath (UCSC)C3  -  19p13.3   chr19:6677846-6720662 -  19p13.3   [Description]    (hg19-Feb_2009)
EnsemblC3 - 19p13.3 [CytoView]
Mapping of homologs : NCBIC3 [Mapview]
OMIM120700   611378   612925   613779   
Gene and transcription
Genbank (Entrez)AI758500 AK094728 AK304071 BC022897 BC063852
RefSeq transcript (Entrez)NM_000064
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_009557 NT_011255 NW_001838478 NW_004929412
Consensus coding sequences : CCDS (NCBI)C3
Cluster EST : UnigeneHs.529053 [ NCBI ]
CGAP (NCI)Hs.529053
Alternative Splicing : Fast-db (Paris)GSHG0015425
Alternative Splicing GalleryENSG00000125730
Gene ExpressionC3 [ NCBI-GEO ]     C3 [ SEEK ]   C3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01024 (Uniprot)
NextProtP01024  [Medical]
With graphics : InterProP01024
Splice isoforms : SwissVarP01024 (Swissvar)
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)    ANAPHYLATOXIN_1 (PS01177)    ANAPHYLATOXIN_2 (PS01178)    NTR (PS50189)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd [organisation]   A2M_comp [organisation]   A2M_N [organisation]   A2M_N_2 [organisation]   Anaphylatoxin/fibulin [organisation]   Anaphylatoxin_comp_syst [organisation]   Anaphylatoxn_comp_syst_dom [organisation]   Macroglobln_a2 [organisation]   MacrogloblnA2_CS [organisation]   MacrogloblnA2_thiol-ester-bond [organisation]   Netrin_domain [organisation]   Netrin_module_non-TIMP [organisation]   Terpenoid_cyclase/PrenylTrfase [organisation]   TIMP-like_OB-fold [organisation]  
Related proteins : CluSTrP01024
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)P01024
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   
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   
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   
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   
Human Protein AtlasENSG00000125730 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP01024
HPRD00400
IPIIPI00783987   
Protein Interaction databases
DIP (DOE-UCLA)P01024
IntAct (EBI)P01024
FunCoupENSG00000125730
BioGRIDC3
InParanoidP01024
Interologous Interaction database P01024
IntegromeDBC3
STRING (EMBL)C3
Ontologies - Pathways
Ontology : AmiGOpositive regulation of type IIa hypersensitivity  positive regulation of protein phosphorylation  positive regulation of activation of membrane attack complex  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  plasma membrane  fatty acid metabolic process  inflammatory response  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  signal transduction  G-protein coupled receptor signaling pathway  positive regulation vascular endothelial growth factor production  positive regulation of glucose transport  regulation of triglyceride biosynthetic process  positive regulation of lipid storage  regulation of complement activation  C5L2 anaphylatoxin chemotactic receptor binding  innate immune response  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of angiogenesis  positive regulation of phagocytosis  regulation of immune response  extracellular vesicular exosome  
Ontology : EGO-EBIpositive regulation of type IIa hypersensitivity  positive regulation of protein phosphorylation  positive regulation of activation of membrane attack complex  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  plasma membrane  fatty acid metabolic process  inflammatory response  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  signal transduction  G-protein coupled receptor signaling pathway  positive regulation vascular endothelial growth factor production  positive regulation of glucose transport  regulation of triglyceride biosynthetic process  positive regulation of lipid storage  regulation of complement activation  C5L2 anaphylatoxin chemotactic receptor binding  innate immune response  positive regulation of G-protein coupled receptor protein signaling pathway  positive regulation of angiogenesis  positive regulation of phagocytosis  regulation of immune response  extracellular vesicular exosome  
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   
Protein Interaction DatabaseC3
Wikipedia pathwaysC3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)C3
snp3D : Map Gene to Disease718
SNP (GeneSNP Utah)C3
SNP : HGBaseC3
Genetic variants : HAPMAPC3
Exome VariantC3
1000_GenomesC3 
ICGC programENSG00000125730 
Somatic Mutations in Cancer : COSMICC3 
CONAN: Copy Number AnalysisC3 
Mutations and Diseases : HGMDC3
Genomic VariantsC3  C3 [DGVbeta]
dbVarC3
ClinVarC3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM120700    611378    612925    613779   
MedgenC3
GENETestsC3
Disease Genetic AssociationC3
Huge Navigator C3 [HugePedia]  C3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneC3
Homology/Alignments : Family Browser (UCSC)C3
Phylogenetic Trees/Animal Genes : TreeFamC3
Chemical/Protein Interactions : CTD718
Chemical/Pharm GKB GenePA25897
Clinical trialC3
Cancer Resource (Charite)ENSG00000125730
Other databases
Probes
Litterature
PubMed390 Pubmed reference(s) in Entrez
CoreMineC3
iHOPC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:47:14 CEST 2014

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