Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CD320 (CD320 molecule)

Identity

Alias_namesCD320 antigen
Alias_symbol (synonym)8D6
8D6A
Other aliasTCBLR
TCN2R
HGNC (Hugo) CD320
LocusID (NCBI) 51293
Atlas_Id 53536
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 8302127 and ends at 8308356 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)
ARHGAP31 (3q13.33) / CD320 (19p13.2)CD320 (19p13.2) / CHD1L (1q21.1)

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)CD320   16692
Cards
Entrez_Gene (NCBI)CD320  51293  CD320 molecule
Aliases8D6; 8D6A; TCBLR; TCN2R
GeneCards (Weizmann)CD320
Ensembl hg19 (Hinxton)ENSG00000167775 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167775 [Gene_View]  ENSG00000167775 [Sequence]  chr19:8302127-8308356 [Contig_View]  CD320 [Vega]
ICGC DataPortalENSG00000167775
TCGA cBioPortalCD320
AceView (NCBI)CD320
Genatlas (Paris)CD320
WikiGenes51293
SOURCE (Princeton)CD320
Genetics Home Reference (NIH)CD320
Genomic and cartography
GoldenPath hg38 (UCSC)CD320  -     chr19:8302127-8308356 -  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD320  -     19p13.2   [Description]    (hg19-Feb_2009)
GoldenPathCD320 - 19p13.2 [CytoView hg19]  CD320 - 19p13.2 [CytoView hg38]
ImmunoBaseENSG00000167775
Mapping of homologs : NCBICD320 [Mapview hg19]  CD320 [Mapview hg38]
OMIM606475   613646   
Gene and transcription
Genbank (Entrez)AF161254 AK058014 AK222623 AK315656 AL136652
RefSeq transcript (Entrez)NM_001165895 NM_016579
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD320
Cluster EST : UnigeneHs.558499 [ NCBI ]
CGAP (NCI)Hs.558499
Alternative Splicing GalleryENSG00000167775
Gene ExpressionCD320 [ NCBI-GEO ]   CD320 [ EBI - ARRAY_EXPRESS ]   CD320 [ SEEK ]   CD320 [ MEM ]
Gene Expression Viewer (FireBrowse)CD320 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51293
GTEX Portal (Tissue expression)CD320
Human Protein AtlasENSG00000167775-CD320 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPF0
Splice isoforms : SwissVarQ9NPF0
PhosPhoSitePlusQ9NPF0
Domaine pattern : Prosite (Expaxy)LDLRA_1 (PS01209)    LDLRA_2 (PS50068)   
Domains : Interpro (EBI)LDL_receptor-like_sf    LDLR_class-A_CS    LDrepeatLR_classA_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)   
Domain families : Pfam (NCBI)pfam00057   
Domain families : Smart (EMBL)LDLa (SM00192)  
Conserved Domain (NCBI)CD320
DMDM Disease mutations51293
Blocks (Seattle)CD320
PDB (RSDB)4ZRP    4ZRQ   
PDB Europe4ZRP    4ZRQ   
PDB (PDBSum)4ZRP    4ZRQ   
PDB (IMB)4ZRP    4ZRQ   
Structural Biology KnowledgeBase4ZRP    4ZRQ   
SCOP (Structural Classification of Proteins)4ZRP    4ZRQ   
CATH (Classification of proteins structures)4ZRP    4ZRQ   
SuperfamilyQ9NPF0
Human Protein Atlas [tissue]ENSG00000167775-CD320 [tissue]
Peptide AtlasQ9NPF0
HPRD05929
IPIIPI00641251   IPI00015047   IPI00641672   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPF0
IntAct (EBI)Q9NPF0
FunCoupENSG00000167775
BioGRIDCD320
STRING (EMBL)CD320
ZODIACCD320
Ontologies - Pathways
QuickGOQ9NPF0
Ontology : AmiGOcalcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  growth factor activity  cobalamin metabolic process  endosome membrane  cobalamin-transporting ATPase activity  cobalamin transport  membrane  regulation of vitamin metabolic process  positive regulation of B cell proliferation  B cell costimulation  cobalamin binding  
Ontology : EGO-EBIcalcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  growth factor activity  cobalamin metabolic process  endosome membrane  cobalamin-transporting ATPase activity  cobalamin transport  membrane  regulation of vitamin metabolic process  positive regulation of B cell proliferation  B cell costimulation  cobalamin binding  
NDEx NetworkCD320
Atlas of Cancer Signalling NetworkCD320
Wikipedia pathwaysCD320
Orthology - Evolution
OrthoDB51293
GeneTree (enSembl)ENSG00000167775
Phylogenetic Trees/Animal Genes : TreeFamCD320
HOGENOMQ9NPF0
Homologs : HomoloGeneCD320
Homology/Alignments : Family Browser (UCSC)CD320
Gene fusions - Rearrangements
Fusion : QuiverCD320
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD320 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD320
dbVarCD320
ClinVarCD320
1000_GenomesCD320 
Exome Variant ServerCD320
ExAC (Exome Aggregation Consortium)ENSG00000167775
GNOMAD BrowserENSG00000167775
Varsome BrowserCD320
Genetic variants : HAPMAP51293
Genomic Variants (DGV)CD320 [DGVbeta]
DECIPHERCD320 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD320 
Mutations
ICGC Data PortalCD320 
TCGA Data PortalCD320 
Broad Tumor PortalCD320
OASIS PortalCD320 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD320  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCD320
Mutations and Diseases : HGMDCD320
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)Mendelian genes
BioMutasearch CD320
DgiDB (Drug Gene Interaction Database)CD320
DoCM (Curated mutations)CD320 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD320 (select a term)
intoGenCD320
Cancer3DCD320(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606475    613646   
Orphanet20433   
DisGeNETCD320
MedgenCD320
Genetic Testing Registry CD320
NextProtQ9NPF0 [Medical]
TSGene51293
GENETestsCD320
Target ValidationCD320
Huge Navigator CD320 [HugePedia]
snp3D : Map Gene to Disease51293
BioCentury BCIQCD320
ClinGenCD320
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51293
Chemical/Pharm GKB GenePA142672142
Clinical trialCD320
Miscellaneous
canSAR (ICR)CD320 (select the gene name)
DataMed IndexCD320
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD320
EVEXCD320
GoPubMedCD320
iHOPCD320
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:36:13 CET 2019
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