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C4A (complement C4A (Rodgers blood group))

Identity

Alias_namescomplement component 4A
complement component 4A (Rodgers blood group)
Alias_symbol (synonym)CPAMD2
C4S
CO4
C4
C4A3
C4A2
C4A4
C4A6
C4B
RG
Other aliasC4AD
HGNC (Hugo) C4A
LocusID (NCBI) 720
Atlas_Id 50897
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31982057 and ends at 32002680 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)

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)C4A   1323
LRG (Locus Reference Genomic)LRG_137
Cards
Entrez_Gene (NCBI)C4A  720  complement C4A (Rodgers blood group)
AliasesC4; C4A2; C4A3; C4A4; 
C4A6; C4AD; C4S; CO4; CPAMD2; RG
GeneCards (Weizmann)C4A
Ensembl hg19 (Hinxton)ENSG00000244731 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244731 [Gene_View]  ENSG00000244731 [Sequence]  chr6:31982057-32002680 [Contig_View]  C4A [Vega]
ICGC DataPortalENSG00000244731
TCGA cBioPortalC4A
AceView (NCBI)C4A
Genatlas (Paris)C4A
WikiGenes720
SOURCE (Princeton)C4A
Genetics Home Reference (NIH)C4A
Genomic and cartography
GoldenPath hg38 (UCSC)C4A  -     chr6:31982057-32002680 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C4A  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblC4A - 6p21.33 [CytoView hg19]  C4A - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIC4A [Mapview hg19]  C4A [Mapview hg38]
OMIM120810   614374   614380   
Gene and transcription
Genbank (Entrez)AB209989 AI065121 AK293191 AK293364 BC012372
RefSeq transcript (Entrez)NM_001252204 NM_007293
RefSeq genomic (Entrez)NC_000006 NG_011638 NT_167245 NT_167248
Consensus coding sequences : CCDS (NCBI)C4A
Cluster EST : UnigeneHs.720022 [ NCBI ]
CGAP (NCI)Hs.720022
Alternative Splicing GalleryENSG00000244731
Gene ExpressionC4A [ NCBI-GEO ]   C4A [ EBI - ARRAY_EXPRESS ]   C4A [ SEEK ]   C4A [ MEM ]
Gene Expression Viewer (FireBrowse)C4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)720
GTEX Portal (Tissue expression)C4A
Human Protein AtlasENSG00000244731-C4A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C0L4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C0L4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C0L4
Splice isoforms : SwissVarP0C0L4
PhosPhoSitePlusP0C0L4
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)    ANAPHYLATOXIN_1 (PS01177)    ANAPHYLATOXIN_2 (PS01178)    NTR (PS50189)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd    A-macroglobulin_rcpt-bd_sf    A2M_comp    A2M_N    A2M_N_2    Anaphylatoxin/fibulin    Anaphylatoxin_comp_syst    Anaphylatoxn_comp_syst_dom    Complement_C4A    Ig-like_fold    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)A2M (SM01360)  A2M_N_2 (SM01359)  A2M_recep (SM01361)  ANATO (SM00104)  C345C (SM00643)  
Conserved Domain (NCBI)C4A
DMDM Disease mutations720
Blocks (Seattle)C4A
PDB (SRS)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
PDB (PDBSum)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
PDB (IMB)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
PDB (RSDB)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
Structural Biology KnowledgeBase1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
SCOP (Structural Classification of Proteins)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
CATH (Classification of proteins structures)1HZF    4FXG    4FXK    4XAM    5JPM    5JPN    5JTW   
SuperfamilyP0C0L4
Human Protein Atlas [tissue]ENSG00000244731-C4A [tissue]
Peptide AtlasP0C0L4
HPRD00401
IPIIPI00032258   IPI01026317   IPI00889723   IPI01021088   IPI00874094   IPI01010386   IPI00643525   IPI00892547   IPI00843913   IPI01012744   
Protein Interaction databases
DIP (DOE-UCLA)P0C0L4
IntAct (EBI)P0C0L4
FunCoupENSG00000244731
BioGRIDC4A
STRING (EMBL)C4A
ZODIACC4A
Ontologies - Pathways
QuickGOP0C0L4
Ontology : AmiGOcomplement component C1q binding  serine-type endopeptidase activity  endopeptidase inhibitor activity  extracellular region  extracellular space  extracellular space  endoplasmic reticulum lumen  plasma membrane  proteolysis  inflammatory response  complement activation  complement activation  complement activation, classical pathway  negative regulation of endopeptidase activity  cell junction  axon  dendrite  regulation of complement activation  neuronal cell body  post-translational protein modification  cellular protein metabolic process  innate immune response  synapse  extracellular exosome  blood microparticle  positive regulation of apoptotic cell clearance  
Ontology : EGO-EBIcomplement component C1q binding  serine-type endopeptidase activity  endopeptidase inhibitor activity  extracellular region  extracellular space  extracellular space  endoplasmic reticulum lumen  plasma membrane  proteolysis  inflammatory response  complement activation  complement activation  complement activation, classical pathway  negative regulation of endopeptidase activity  cell junction  axon  dendrite  regulation of complement activation  neuronal cell body  post-translational protein modification  cellular protein metabolic process  innate immune response  synapse  extracellular exosome  blood microparticle  positive regulation of apoptotic cell clearance  
Pathways : KEGGComplement and coagulation cascades    Pertussis    Staphylococcus aureus infection    Systemic lupus erythematosus   
NDEx NetworkC4A
Atlas of Cancer Signalling NetworkC4A
Wikipedia pathwaysC4A
Orthology - Evolution
OrthoDB720
GeneTree (enSembl)ENSG00000244731
Phylogenetic Trees/Animal Genes : TreeFamC4A
HOVERGENP0C0L4
HOGENOMP0C0L4
Homologs : HomoloGeneC4A
Homology/Alignments : Family Browser (UCSC)C4A
Gene fusions - Rearrangements
Fusion : QuiverC4A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C4A
dbVarC4A
ClinVarC4A
1000_GenomesC4A 
Exome Variant ServerC4A
ExAC (Exome Aggregation Consortium)ENSG00000244731
GNOMAD BrowserENSG00000244731
Varsome BrowserC4A
Genetic variants : HAPMAP720
Genomic Variants (DGV)C4A [DGVbeta]
DECIPHERC4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC4A 
Mutations
ICGC Data PortalC4A 
TCGA Data PortalC4A 
Broad Tumor PortalC4A
OASIS PortalC4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC4A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC4A
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 C4A
DgiDB (Drug Gene Interaction Database)C4A
DoCM (Curated mutations)C4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C4A (select a term)
intoGenC4A
Cancer3DC4A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120810    614374    614380   
Orphanet17827    703   
DisGeNETC4A
MedgenC4A
Genetic Testing Registry C4A
NextProtP0C0L4 [Medical]
TSGene720
GENETestsC4A
Target ValidationC4A
Huge Navigator C4A [HugePedia]
snp3D : Map Gene to Disease720
BioCentury BCIQC4A
ClinGenC4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD720
Chemical/Pharm GKB GenePA25903
Clinical trialC4A
Miscellaneous
canSAR (ICR)C4A (select the gene name)
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC4A
EVEXC4A
GoPubMedC4A
iHOPC4A
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 : Tue Nov 6 10:55:04 CET 2018

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