Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C5 (complement C5)

Identity

Alias_namescomplement component 5
Alias_symbol (synonym)CPAMD4
C5a
C5b
Other aliasC5D
ECLZB
HGNC (Hugo) C5
LocusID (NCBI) 727
Atlas_Id 50864
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at 120952336 and ends at 121075174 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5 (9q33.2) / BRINP1 (9q33.1)C5 (9q33.2) / CCAR2 (8p21.3)C5 (9q33.2) / SEMA4D (9q22.2)
CDC42BPA (1q42.13) / C5 (9q33.2)INIP (9q32) / C5 (9q33.2)PSMD5 (9q33.2) / C5 (9q33.2)
C5 9q33.2 DBC1C5 9q33.2 / SEMA4D 9q22.2CDC42BPA 1q42.13 / C5 9q33.2

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)C5   1331
LRG (Locus Reference Genomic)LRG_28
Cards
Entrez_Gene (NCBI)C5  727  complement C5
AliasesC5D; C5a; C5b; CPAMD4; 
ECLZB
GeneCards (Weizmann)C5
Ensembl hg19 (Hinxton)ENSG00000106804 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106804 [Gene_View]  chr9:120952336-121075174 [Contig_View]  C5 [Vega]
ICGC DataPortalENSG00000106804
TCGA cBioPortalC5
AceView (NCBI)C5
Genatlas (Paris)C5
WikiGenes727
SOURCE (Princeton)C5
Genetics Home Reference (NIH)C5
Genomic and cartography
GoldenPath hg38 (UCSC)C5  -     chr9:120952336-121075174 -  9q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C5  -     9q33.2   [Description]    (hg19-Feb_2009)
EnsemblC5 - 9q33.2 [CytoView hg19]  C5 - 9q33.2 [CytoView hg38]
Mapping of homologs : NCBIC5 [Mapview hg19]  C5 [Mapview hg38]
OMIM120900   609536   615749   
Gene and transcription
Genbank (Entrez)AB209031 AK310774 AK310780 AV682721 BC022299
RefSeq transcript (Entrez)NM_001317163 NM_001317164 NM_001735
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C5
Cluster EST : UnigeneHs.494997 [ NCBI ]
CGAP (NCI)Hs.494997
Alternative Splicing GalleryENSG00000106804
Gene ExpressionC5 [ NCBI-GEO ]   C5 [ EBI - ARRAY_EXPRESS ]   C5 [ SEEK ]   C5 [ MEM ]
Gene Expression Viewer (FireBrowse)C5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)727
GTEX Portal (Tissue expression)C5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01031   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01031  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01031
Splice isoforms : SwissVarP01031
PhosPhoSitePlusP01031
Domaine pattern : Prosite (Expaxy)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    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)   
Domain families : Pfam (NCBI)pfam00207    pfam07678    pfam01835    pfam07703    pfam07677    pfam01821    pfam01759   
Domain families : Smart (EMBL)A2M (SM01360)  A2M_N_2 (SM01359)  A2M_recep (SM01361)  ANATO (SM00104)  C345C (SM00643)  
Conserved Domain (NCBI)C5
DMDM Disease mutations727
Blocks (Seattle)C5
PDB (SRS)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
PDB (PDBSum)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
PDB (IMB)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
PDB (RSDB)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
Structural Biology KnowledgeBase1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
SCOP (Structural Classification of Proteins)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
CATH (Classification of proteins structures)1CFA    1KJS    1XWE    3CU7    3HQA    3HQB    3KLS    3KM9    3PRX    3PVM    4A5W    4E0S    4P39    4UU9    5HCC    5HCD    5HCE    5I5K   
SuperfamilyP01031
Human Protein AtlasENSG00000106804
Peptide AtlasP01031
HPRD00405
IPIIPI00032291   IPI00816741   
Protein Interaction databases
DIP (DOE-UCLA)P01031
IntAct (EBI)P01031
FunCoupENSG00000106804
BioGRIDC5
STRING (EMBL)C5
ZODIACC5
Ontologies - Pathways
QuickGOP01031
Ontology : AmiGOactivation of MAPK activity  in utero embryonic development  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  membrane attack complex  extracellular space  chemotaxis  response to stress  inflammatory response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  cell surface receptor signaling pathway  G-protein coupled receptor signaling pathway  chemokine activity  positive regulation of vascular endothelial growth factor production  negative regulation of macrophage chemotaxis  negative regulation of endopeptidase activity  cytolysis  regulation of complement activation  positive regulation of angiogenesis  cell chemotaxis  extracellular exosome  positive regulation of chemokine secretion  
Ontology : EGO-EBIactivation of MAPK activity  in utero embryonic development  endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  membrane attack complex  extracellular space  chemotaxis  response to stress  inflammatory response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  cell surface receptor signaling pathway  G-protein coupled receptor signaling pathway  chemokine activity  positive regulation of vascular endothelial growth factor production  negative regulation of macrophage chemotaxis  negative regulation of endopeptidase activity  cytolysis  regulation of complement activation  positive regulation of angiogenesis  cell chemotaxis  extracellular exosome  positive regulation of chemokine secretion  
Pathways : BIOCARTA [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Pertussis    Staphylococcus aureus infection    Herpes simplex infection    Systemic lupus erythematosus   
NDEx NetworkC5
Atlas of Cancer Signalling NetworkC5
Wikipedia pathwaysC5
Orthology - Evolution
OrthoDB727
GeneTree (enSembl)ENSG00000106804
Phylogenetic Trees/Animal Genes : TreeFamC5
HOVERGENP01031
HOGENOMP01031
Homologs : HomoloGeneC5
Homology/Alignments : Family Browser (UCSC)C5
Gene fusions - Rearrangements
Fusion : MitelmanC5/CCAR2 [9q33.2/8p21.3]  
Fusion : MitelmanC5/SEMA4D [9q33.2/9q22.2]  [t(9;9)(q22;q33)]  
Fusion : MitelmanCDC42BPA/C5 [1q42.13/9q33.2]  [t(1;9)(q42;q33)]  
Fusion: TCGAC5 9q33.2 DBC1 PRAD
Fusion: TCGAC5 9q33.2 SEMA4D 9q22.2 PRAD
Fusion: TCGACDC42BPA 1q42.13 C5 9q33.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C5
dbVarC5
ClinVarC5
1000_GenomesC5 
Exome Variant ServerC5
ExAC (Exome Aggregation Consortium)C5 (select the gene name)
Genetic variants : HAPMAP727
Genomic Variants (DGV)C5 [DGVbeta]
DECIPHERC5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC5 
Mutations
ICGC Data PortalC5 
TCGA Data PortalC5 
Broad Tumor PortalC5
OASIS PortalC5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC5
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 C5
DgiDB (Drug Gene Interaction Database)C5
DoCM (Curated mutations)C5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C5 (select a term)
intoGenC5
Cancer3DC5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120900    609536    615749   
Orphanet17828   
MedgenC5
Genetic Testing Registry C5
NextProtP01031 [Medical]
TSGene727
GENETestsC5
Target ValidationC5
Huge Navigator C5 [HugePedia]
snp3D : Map Gene to Disease727
BioCentury BCIQC5
ClinGenC5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD727
Chemical/Pharm GKB GenePA25911
Clinical trialC5
Miscellaneous
canSAR (ICR)C5 (select the gene name)
Probes
Litterature
PubMed209 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC5
EVEXC5
GoPubMedC5
iHOPC5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:26:16 CEST 2017

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