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C4B (complement C4B (Chido blood group))

Identity

Alias_namescomplement component 4B
complement component 4B (Chido blood group)
Alias_symbol (synonym)CPAMD3
C4F
CO4
C4B1
C4B3
CH
Other aliasC4B12
C4B2
C4B5
C4BD
C4B_2
HGNC (Hugo) C4B
LocusID (NCBI) 721
Atlas_Id 50871
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31982057 and ends at 32002681 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)C4B   1324
LRG (Locus Reference Genomic)LRG_138
Cards
Entrez_Gene (NCBI)C4B  721  complement C4B (Chido blood group)
AliasesC4B1; C4B12; C4B2; C4B3; 
C4B5; C4BD; C4B_2; C4F; CH; CO4; CPAMD3
GeneCards (Weizmann)C4B
Ensembl hg19 (Hinxton)ENSG00000224389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000224389 [Gene_View]  ENSG00000224389 [Sequence]  chr6:31982057-32002681 [Contig_View]  C4B [Vega]
ICGC DataPortalENSG00000224389
TCGA cBioPortalC4B
AceView (NCBI)C4B
Genatlas (Paris)C4B
WikiGenes721
SOURCE (Princeton)C4B
Genetics Home Reference (NIH)C4B
Genomic and cartography
GoldenPath hg38 (UCSC)C4B  -     chr6:31982057-32002681 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C4B  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblC4B - 6p21.33 [CytoView hg19]  C4B - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIC4B [Mapview hg19]  C4B [Mapview hg38]
OMIM120820   614379   
Gene and transcription
Genbank (Entrez)AK304564 BM672834 BQ960796 CD624022 DA395398
RefSeq transcript (Entrez)NM_001002029
RefSeq genomic (Entrez)NC_000006 NG_011639 NT_113891 NT_167245 NT_167249
Consensus coding sequences : CCDS (NCBI)C4B
Cluster EST : UnigeneHs.720022 [ NCBI ]
CGAP (NCI)Hs.720022
Alternative Splicing GalleryENSG00000224389
Gene ExpressionC4B [ NCBI-GEO ]   C4B [ EBI - ARRAY_EXPRESS ]   C4B [ SEEK ]   C4B [ MEM ]
Gene Expression Viewer (FireBrowse)C4B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)721
GTEX Portal (Tissue expression)C4B
Human Protein AtlasENSG00000224389-C4B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C0L5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C0L5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C0L5
Splice isoforms : SwissVarP0C0L5
PhosPhoSitePlusP0C0L5
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)C4B
DMDM Disease mutations721
Blocks (Seattle)C4B
PDB (SRS)4XAM   
PDB (PDBSum)4XAM   
PDB (IMB)4XAM   
PDB (RSDB)4XAM   
Structural Biology KnowledgeBase4XAM   
SCOP (Structural Classification of Proteins)4XAM   
CATH (Classification of proteins structures)4XAM   
SuperfamilyP0C0L5
Human Protein Atlas [tissue]ENSG00000224389-C4B [tissue]
Peptide AtlasP0C0L5
HPRD00402
IPIIPI00654875   IPI01022932   IPI01012499   IPI01010597   IPI00418163   IPI00887154   
Protein Interaction databases
DIP (DOE-UCLA)P0C0L5
IntAct (EBI)P0C0L5
FunCoupENSG00000224389
BioGRIDC4B
STRING (EMBL)C4B
ZODIACC4B
Ontologies - Pathways
QuickGOP0C0L5
Ontology : AmiGOcomplement binding  serine-type endopeptidase activity  endopeptidase inhibitor activity  extracellular region  extracellular space  extracellular space  plasma membrane  proteolysis  inflammatory response  complement activation  complement activation  complement activation, classical pathway  opsonization  negative regulation of endopeptidase activity  cell junction  carbohydrate binding  axon  dendrite  regulation of complement activation  detection of molecule of bacterial origin  other organism cell  innate immune response  synapse  extracellular exosome  blood microparticle  positive regulation of apoptotic cell clearance  
Ontology : EGO-EBIcomplement binding  serine-type endopeptidase activity  endopeptidase inhibitor activity  extracellular region  extracellular space  extracellular space  plasma membrane  proteolysis  inflammatory response  complement activation  complement activation  complement activation, classical pathway  opsonization  negative regulation of endopeptidase activity  cell junction  carbohydrate binding  axon  dendrite  regulation of complement activation  detection of molecule of bacterial origin  other organism cell  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 NetworkC4B
Atlas of Cancer Signalling NetworkC4B
Wikipedia pathwaysC4B
Orthology - Evolution
OrthoDB721
GeneTree (enSembl)ENSG00000224389
Phylogenetic Trees/Animal Genes : TreeFamC4B
HOVERGENP0C0L5
HOGENOMP0C0L5
Homologs : HomoloGeneC4B
Homology/Alignments : Family Browser (UCSC)C4B
Gene fusions - Rearrangements
Fusion : QuiverC4B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC4B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C4B
dbVarC4B
ClinVarC4B
1000_GenomesC4B 
Exome Variant ServerC4B
ExAC (Exome Aggregation Consortium)ENSG00000224389
GNOMAD BrowserENSG00000224389
Varsome BrowserC4B
Genetic variants : HAPMAP721
Genomic Variants (DGV)C4B [DGVbeta]
DECIPHERC4B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC4B 
Mutations
ICGC Data PortalC4B 
TCGA Data PortalC4B 
Broad Tumor PortalC4B
OASIS PortalC4B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC4B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC4B
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
BioMutasearch C4B
DgiDB (Drug Gene Interaction Database)C4B
DoCM (Curated mutations)C4B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C4B (select a term)
intoGenC4B
Cancer3DC4B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120820    614379   
Orphanet17827   
DisGeNETC4B
MedgenC4B
Genetic Testing Registry C4B
NextProtP0C0L5 [Medical]
TSGene721
GENETestsC4B
Target ValidationC4B
Huge Navigator C4B [HugePedia]
snp3D : Map Gene to Disease721
BioCentury BCIQC4B
ClinGenC4B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD721
Chemical/Pharm GKB GenePA25904
Clinical trialC4B
Miscellaneous
canSAR (ICR)C4B (select the gene name)
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC4B
EVEXC4B
GoPubMedC4B
iHOPC4B
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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