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C2 (complement C2)

Identity

Alias_namescomplement component 2
Other aliasARMD14
CO2
HGNC (Hugo) C2
LocusID (NCBI) 717
Atlas_Id 61107
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31927477 and ends at 31945674 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MRPL44 (2q36.1) / C2 (6p21.33)

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)C2   1248
LRG (Locus Reference Genomic)LRG_26
Cards
Entrez_Gene (NCBI)C2  717  complement C2
AliasesARMD14; CO2
GeneCards (Weizmann)C2
Ensembl hg19 (Hinxton)ENSG00000166278 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166278 [Gene_View]  ENSG00000166278 [Sequence]  chr6:31927477-31945674 [Contig_View]  C2 [Vega]
ICGC DataPortalENSG00000166278
TCGA cBioPortalC2
AceView (NCBI)C2
Genatlas (Paris)C2
WikiGenes717
SOURCE (Princeton)C2
Genetics Home Reference (NIH)C2
Genomic and cartography
GoldenPath hg38 (UCSC)C2  -     chr6:31927477-31945674 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C2  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblC2 - 6p21.33 [CytoView hg19]  C2 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIC2 [Mapview hg19]  C2 [Mapview hg38]
OMIM217000   613927   615489   
Gene and transcription
Genbank (Entrez)AA740316 AK096258 AK222537 AK222783 AK298311
RefSeq transcript (Entrez)NM_000063 NM_001145903 NM_001178063 NM_001282457 NM_001282458 NM_001282459
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_011730 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)C2
Cluster EST : UnigeneHs.408903 [ NCBI ]
CGAP (NCI)Hs.408903
Alternative Splicing GalleryENSG00000166278
Gene ExpressionC2 [ NCBI-GEO ]   C2 [ EBI - ARRAY_EXPRESS ]   C2 [ SEEK ]   C2 [ MEM ]
Gene Expression Viewer (FireBrowse)C2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)717
GTEX Portal (Tissue expression)C2
Human Protein AtlasENSG00000166278-C2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06681   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06681  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06681
Splice isoforms : SwissVarP06681
Catalytic activity : Enzyme3.4.21.43 [ Enzyme-Expasy ]   3.4.21.433.4.21.43 [ IntEnz-EBI ]   3.4.21.43 [ BRENDA ]   3.4.21.43 [ KEGG ]   
PhosPhoSitePlusP06681
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)    VWFA (PS50234)   
Domains : Interpro (EBI)Compl_C2_B    Peptidase_S1_PA    Peptidase_S1A    Sushi_SCR_CCP_dom    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER    VWF_A   
Domain families : Pfam (Sanger)Sushi (PF00084)    Trypsin (PF00089)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam00084    pfam00089    pfam00092   
Domain families : Smart (EMBL)CCP (SM00032)  Tryp_SPc (SM00020)  VWA (SM00327)  
Conserved Domain (NCBI)C2
DMDM Disease mutations717
Blocks (Seattle)C2
PDB (SRS)2I6Q    2I6S    2ODP    2ODQ    3ERB   
PDB (PDBSum)2I6Q    2I6S    2ODP    2ODQ    3ERB   
PDB (IMB)2I6Q    2I6S    2ODP    2ODQ    3ERB   
PDB (RSDB)2I6Q    2I6S    2ODP    2ODQ    3ERB   
Structural Biology KnowledgeBase2I6Q    2I6S    2ODP    2ODQ    3ERB   
SCOP (Structural Classification of Proteins)2I6Q    2I6S    2ODP    2ODQ    3ERB   
CATH (Classification of proteins structures)2I6Q    2I6S    2ODP    2ODQ    3ERB   
SuperfamilyP06681
Human Protein Atlas [tissue]ENSG00000166278-C2 [tissue]
Peptide AtlasP06681
HPRD08939
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P06681
IntAct (EBI)P06681
FunCoupENSG00000166278
BioGRIDC2
STRING (EMBL)C2
ZODIACC2
Ontologies - Pathways
QuickGOP06681
Ontology : AmiGO###############################################################################################################################################################################################################################################################                            
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                            
Pathways : BIOCARTAComplement Pathway [Genes]    Classical Complement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkC2
Atlas of Cancer Signalling NetworkC2
Wikipedia pathwaysC2
Orthology - Evolution
OrthoDB717
GeneTree (enSembl)ENSG00000166278
Phylogenetic Trees/Animal Genes : TreeFamC2
HOVERGENP06681
HOGENOMP06681
Homologs : HomoloGeneC2
Homology/Alignments : Family Browser (UCSC)C2
Gene fusions - Rearrangements
Fusion : QuiverC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C2
dbVarC2
ClinVarC2
1000_GenomesC2 
Exome Variant ServerC2
ExAC (Exome Aggregation Consortium)ENSG00000166278
GNOMAD BrowserENSG00000166278
Varsome BrowserC2
Genetic variants : HAPMAP717
Genomic Variants (DGV)C2 [DGVbeta]
DECIPHERC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC2 
Mutations
ICGC Data PortalC2 
TCGA Data PortalC2 
Broad Tumor PortalC2
OASIS PortalC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch C2
DgiDB (Drug Gene Interaction Database)C2
DoCM (Curated mutations)C2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C2 (select a term)
intoGenC2
Cancer3DC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217000    613927    615489   
Orphanet17827   
DisGeNETC2
MedgenC2
Genetic Testing Registry C2
NextProtP06681 [Medical]
TSGene717
GENETestsC2
Target ValidationC2
Huge Navigator C2 [HugePedia]
snp3D : Map Gene to Disease717
BioCentury BCIQC2
ClinGenC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD717
Chemical/Pharm GKB GenePA25637
Clinical trialC2
Miscellaneous
canSAR (ICR)C2 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC2
EVEXC2
GoPubMedC2
iHOPC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:38:08 CEST 2018

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