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C8B (complement C8 beta chain)

Identity

Alias_namescomplement component 8, beta polypeptide
Other aliasC82
HGNC (Hugo) C8B
LocusID (NCBI) 732
Atlas_Id 61278
Location 1p32.2  [Link to chromosome band 1p32]
Location_base_pair Starts at 56929210 and ends at 56966140 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACOT11 (1p32.3) / C8B (1p32.2)

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)C8B   1353
LRG (Locus Reference Genomic)LRG_31
Cards
Entrez_Gene (NCBI)C8B  732  complement C8 beta chain
AliasesC82
GeneCards (Weizmann)C8B
Ensembl hg19 (Hinxton)ENSG00000021852 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000021852 [Gene_View]  chr1:56929210-56966140 [Contig_View]  C8B [Vega]
ICGC DataPortalENSG00000021852
TCGA cBioPortalC8B
AceView (NCBI)C8B
Genatlas (Paris)C8B
WikiGenes732
SOURCE (Princeton)C8B
Genetics Home Reference (NIH)C8B
Genomic and cartography
GoldenPath hg38 (UCSC)C8B  -     chr1:56929210-56966140 -  1p32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C8B  -     1p32.2   [Description]    (hg19-Feb_2009)
EnsemblC8B - 1p32.2 [CytoView hg19]  C8B - 1p32.2 [CytoView hg38]
Mapping of homologs : NCBIC8B [Mapview hg19]  C8B [Mapview hg38]
OMIM120960   613789   
Gene and transcription
Genbank (Entrez)AK292740 AK298425 AK298444 AK313382 AK316209
RefSeq transcript (Entrez)NM_000066 NM_001278543 NM_001278544
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C8B
Cluster EST : UnigeneHs.391835 [ NCBI ]
CGAP (NCI)Hs.391835
Alternative Splicing GalleryENSG00000021852
Gene ExpressionC8B [ NCBI-GEO ]   C8B [ EBI - ARRAY_EXPRESS ]   C8B [ SEEK ]   C8B [ MEM ]
Gene Expression Viewer (FireBrowse)C8B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)732
GTEX Portal (Tissue expression)C8B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07358   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07358  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07358
Splice isoforms : SwissVarP07358
PhosPhoSitePlusP07358
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    MACPF_1 (PS00279)    MACPF_2 (PS51412)    TSP1 (PS50092)   
Domains : Interpro (EBI)LDLR_class-A_CS    LDrepeatLR_classA_rpt    MAC_perforin    MACPF    MACPF_CS    TSP1_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    MACPF (PF01823)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam00057    pfam01823    pfam00090   
Domain families : Smart (EMBL)LDLa (SM00192)  MACPF (SM00457)  TSP1 (SM00209)  
Conserved Domain (NCBI)C8B
DMDM Disease mutations732
Blocks (Seattle)C8B
PDB (SRS)3OJY   
PDB (PDBSum)3OJY   
PDB (IMB)3OJY   
PDB (RSDB)3OJY   
Structural Biology KnowledgeBase3OJY   
SCOP (Structural Classification of Proteins)3OJY   
CATH (Classification of proteins structures)3OJY   
SuperfamilyP07358
Human Protein AtlasENSG00000021852
Peptide AtlasP07358
HPRD00410
IPIIPI00294395   IPI01019006   IPI01012234   
Protein Interaction databases
DIP (DOE-UCLA)P07358
IntAct (EBI)P07358
FunCoupENSG00000021852
BioGRIDC8B
STRING (EMBL)C8B
ZODIACC8B
Ontologies - Pathways
QuickGOP07358
Ontology : AmiGOextracellular region  membrane attack complex  extracellular space  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  membrane  cytolysis  regulation of complement activation  protein complex binding  extracellular exosome  extracellular vesicle  
Ontology : EGO-EBIextracellular region  membrane attack complex  extracellular space  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  membrane  cytolysis  regulation of complement activation  protein complex binding  extracellular exosome  extracellular vesicle  
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Amoebiasis    Systemic lupus erythematosus   
NDEx NetworkC8B
Atlas of Cancer Signalling NetworkC8B
Wikipedia pathwaysC8B
Orthology - Evolution
OrthoDB732
GeneTree (enSembl)ENSG00000021852
Phylogenetic Trees/Animal Genes : TreeFamC8B
HOVERGENP07358
HOGENOMP07358
Homologs : HomoloGeneC8B
Homology/Alignments : Family Browser (UCSC)C8B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC8B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C8B
dbVarC8B
ClinVarC8B
1000_GenomesC8B 
Exome Variant ServerC8B
ExAC (Exome Aggregation Consortium)C8B (select the gene name)
Genetic variants : HAPMAP732
Genomic Variants (DGV)C8B [DGVbeta]
DECIPHERC8B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC8B 
Mutations
ICGC Data PortalC8B 
TCGA Data PortalC8B 
Broad Tumor PortalC8B
OASIS PortalC8B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC8B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC8B
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 C8B
DgiDB (Drug Gene Interaction Database)C8B
DoCM (Curated mutations)C8B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C8B (select a term)
intoGenC8B
Cancer3DC8B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120960    613789   
Orphanet17828   
MedgenC8B
Genetic Testing Registry C8B
NextProtP07358 [Medical]
TSGene732
GENETestsC8B
Target ValidationC8B
Huge Navigator C8B [HugePedia]
snp3D : Map Gene to Disease732
BioCentury BCIQC8B
ClinGenC8B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD732
Chemical/Pharm GKB GenePA25952
Clinical trialC8B
Miscellaneous
canSAR (ICR)C8B (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC8B
EVEXC8B
GoPubMedC8B
iHOPC8B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:41:34 CEST 2017

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