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CD48 (CD48 molecule)

Identity

Alias_namesBCM1
CD48 antigen (B-cell membrane protein)
CD48 molecule
Alias_symbol (synonym)BLAST
mCD48
hCD48
SLAMF2
Other aliasBLAST1
MEM-102
HGNC (Hugo) CD48
LocusID (NCBI) 962
Atlas_Id 982
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 160680422 and ends at 160711851 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PARD6B (20q13.13) / CD48 (1q23.3)PARD6B 20q13.13 / CD48 1q23.3

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)CD48   1683
Cards
Entrez_Gene (NCBI)CD48  962  CD48 molecule
AliasesBCM1; BLAST; BLAST1; MEM-102; 
SLAMF2; hCD48; mCD48
GeneCards (Weizmann)CD48
Ensembl hg19 (Hinxton)ENSG00000117091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117091 [Gene_View]  chr1:160680422-160711851 [Contig_View]  CD48 [Vega]
ICGC DataPortalENSG00000117091
TCGA cBioPortalCD48
AceView (NCBI)CD48
Genatlas (Paris)CD48
WikiGenes962
SOURCE (Princeton)CD48
Genetics Home Reference (NIH)CD48
Genomic and cartography
GoldenPath hg38 (UCSC)CD48  -     chr1:160680422-160711851 -  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD48  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblCD48 - 1q23.3 [CytoView hg19]  CD48 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBICD48 [Mapview hg19]  CD48 [Mapview hg38]
OMIM109530   
Gene and transcription
Genbank (Entrez)AK225636 AK310624 AK310744 BC016182 BC030224
RefSeq transcript (Entrez)NM_001256030 NM_001778
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD48
Cluster EST : UnigeneHs.243564 [ NCBI ]
CGAP (NCI)Hs.243564
Alternative Splicing GalleryENSG00000117091
Gene ExpressionCD48 [ NCBI-GEO ]   CD48 [ EBI - ARRAY_EXPRESS ]   CD48 [ SEEK ]   CD48 [ MEM ]
Gene Expression Viewer (FireBrowse)CD48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)962
GTEX Portal (Tissue expression)CD48
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09326   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09326  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09326
Splice isoforms : SwissVarP09326
PhosPhoSitePlusP09326
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)CD48    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set   
Domain families : Pfam (Sanger)Ig_2 (PF13895)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam13895    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  
Conserved Domain (NCBI)CD48
DMDM Disease mutations962
Blocks (Seattle)CD48
PDB (SRS)2EDO   
PDB (PDBSum)2EDO   
PDB (IMB)2EDO   
PDB (RSDB)2EDO   
Structural Biology KnowledgeBase2EDO   
SCOP (Structural Classification of Proteins)2EDO   
CATH (Classification of proteins structures)2EDO   
SuperfamilyP09326
Human Protein AtlasENSG00000117091
Peptide AtlasP09326
HPRD00177
IPIIPI00013831   IPI00383453   
Protein Interaction databases
DIP (DOE-UCLA)P09326
IntAct (EBI)P09326
FunCoupENSG00000117091
BioGRIDCD48
STRING (EMBL)CD48
ZODIACCD48
Ontologies - Pathways
QuickGOP09326
Ontology : AmiGOregulation of adaptive immune response  receptor activity  protein binding  plasma membrane  integral component of plasma membrane  defense response  membrane  anchored component of membrane  membrane raft  leukocyte migration  extracellular exosome  
Ontology : EGO-EBIregulation of adaptive immune response  receptor activity  protein binding  plasma membrane  integral component of plasma membrane  defense response  membrane  anchored component of membrane  membrane raft  leukocyte migration  extracellular exosome  
Pathways : KEGGNatural killer cell mediated cytotoxicity   
NDEx NetworkCD48
Atlas of Cancer Signalling NetworkCD48
Wikipedia pathwaysCD48
Orthology - Evolution
OrthoDB962
GeneTree (enSembl)ENSG00000117091
Phylogenetic Trees/Animal Genes : TreeFamCD48
HOVERGENP09326
HOGENOMP09326
Homologs : HomoloGeneCD48
Homology/Alignments : Family Browser (UCSC)CD48
Gene fusions - Rearrangements
Fusion : MitelmanPARD6B/CD48 [20q13.13/1q23.3]  [t(1;20)(q23;q13)]  
Fusion: TCGAPARD6B 20q13.13 CD48 1q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD48
dbVarCD48
ClinVarCD48
1000_GenomesCD48 
Exome Variant ServerCD48
ExAC (Exome Aggregation Consortium)CD48 (select the gene name)
Genetic variants : HAPMAP962
Genomic Variants (DGV)CD48 [DGVbeta]
DECIPHERCD48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD48 
Mutations
ICGC Data PortalCD48 
TCGA Data PortalCD48 
Broad Tumor PortalCD48
OASIS PortalCD48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD48
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 CD48
DgiDB (Drug Gene Interaction Database)CD48
DoCM (Curated mutations)CD48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD48 (select a term)
intoGenCD48
Cancer3DCD48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109530   
Orphanet
MedgenCD48
Genetic Testing Registry CD48
NextProtP09326 [Medical]
TSGene962
GENETestsCD48
Target ValidationCD48
Huge Navigator CD48 [HugePedia]
snp3D : Map Gene to Disease962
BioCentury BCIQCD48
ClinGenCD48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD962
Chemical/Pharm GKB GenePA26223
Clinical trialCD48
Miscellaneous
canSAR (ICR)CD48 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD48
EVEXCD48
GoPubMedCD48
iHOPCD48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:49:14 CEST 2017

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