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BCAM (basal cell adhesion molecule (Lutheran blood group))

Identity

Alias_namesLU
Lutheran blood group (Auberger b antigen included)
basal cell adhesion molecule (Lu and Au blood groups)
Alias_symbol (synonym)CD239
Other aliasAU
MSK19
HGNC (Hugo) BCAM
LocusID (NCBI) 4059
Atlas_Id 43679
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 44809059 and ends at 44821421 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCAM (19q13.32) / AHSA2 (2p15)BCAM (19q13.32) / AKT2 (19q13.2)BCAM (19q13.32) / ATP11B (3q26.33)
BCAM (19q13.32) / DBNL (7p13)BCAM (19q13.32) / FAM134C (17q21.2)BCAM (19q13.32) / PES1 (22q12.2)
BCL2L2-PABPN1 (14q11.2) / BCAM (19q13.32)

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)BCAM   6722
LRG (Locus Reference Genomic)LRG_798
Cards
Entrez_Gene (NCBI)BCAM  4059  basal cell adhesion molecule (Lutheran blood group)
AliasesAU; CD239; LU; MSK19
GeneCards (Weizmann)BCAM
Ensembl hg19 (Hinxton)ENSG00000187244 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187244 [Gene_View]  chr19:44809059-44821421 [Contig_View]  BCAM [Vega]
ICGC DataPortalENSG00000187244
TCGA cBioPortalBCAM
AceView (NCBI)BCAM
Genatlas (Paris)BCAM
WikiGenes4059
SOURCE (Princeton)BCAM
Genetics Home Reference (NIH)BCAM
Genomic and cartography
GoldenPath hg38 (UCSC)BCAM  -     chr19:44809059-44821421 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCAM  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblBCAM - 19q13.32 [CytoView hg19]  BCAM - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIBCAM [Mapview hg19]  BCAM [Mapview hg38]
OMIM111200   247420   612773   
Gene and transcription
Genbank (Entrez)AY927517 BC036745 BC050450 BC128254 BM985314
RefSeq transcript (Entrez)NM_001013257 NM_005581
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCAM
Cluster EST : UnigeneHs.625725 [ NCBI ]
CGAP (NCI)Hs.625725
Alternative Splicing GalleryENSG00000187244
Gene ExpressionBCAM [ NCBI-GEO ]   BCAM [ EBI - ARRAY_EXPRESS ]   BCAM [ SEEK ]   BCAM [ MEM ]
Gene Expression Viewer (FireBrowse)BCAM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4059
GTEX Portal (Tissue expression)BCAM
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50895   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50895  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50895
Splice isoforms : SwissVarP50895
PhosPhoSitePlusP50895
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)CD80_C2-set    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_sub2    Ig_V-set   
Domain families : Pfam (Sanger)C2-set_2 (PF08205)    Ig_2 (PF13895)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam08205    pfam13895    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)BCAM
DMDM Disease mutations4059
Blocks (Seattle)BCAM
PDB (SRS)2PET    2PF6   
PDB (PDBSum)2PET    2PF6   
PDB (IMB)2PET    2PF6   
PDB (RSDB)2PET    2PF6   
Structural Biology KnowledgeBase2PET    2PF6   
SCOP (Structural Classification of Proteins)2PET    2PF6   
CATH (Classification of proteins structures)2PET    2PF6   
SuperfamilyP50895
Human Protein AtlasENSG00000187244
Peptide AtlasP50895
HPRD00197
IPIIPI00002406   IPI00956442   IPI00554618   
Protein Interaction databases
DIP (DOE-UCLA)P50895
IntAct (EBI)P50895
FunCoupENSG00000187244
BioGRIDBCAM
STRING (EMBL)BCAM
ZODIACBCAM
Ontologies - Pathways
QuickGOP50895
Ontology : AmiGOtransmembrane signaling receptor activity  laminin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  cell adhesion  cell-matrix adhesion  signal transduction  protein C-terminus binding  external side of plasma membrane  laminin binding  extracellular exosome  
Ontology : EGO-EBItransmembrane signaling receptor activity  laminin receptor activity  protein binding  plasma membrane  integral component of plasma membrane  cell adhesion  cell-matrix adhesion  signal transduction  protein C-terminus binding  external side of plasma membrane  laminin binding  extracellular exosome  
NDEx NetworkBCAM
Atlas of Cancer Signalling NetworkBCAM
Wikipedia pathwaysBCAM
Orthology - Evolution
OrthoDB4059
GeneTree (enSembl)ENSG00000187244
Phylogenetic Trees/Animal Genes : TreeFamBCAM
HOVERGENP50895
HOGENOMP50895
Homologs : HomoloGeneBCAM
Homology/Alignments : Family Browser (UCSC)BCAM
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCAM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCAM
dbVarBCAM
ClinVarBCAM
1000_GenomesBCAM 
Exome Variant ServerBCAM
ExAC (Exome Aggregation Consortium)BCAM (select the gene name)
Genetic variants : HAPMAP4059
Genomic Variants (DGV)BCAM [DGVbeta]
DECIPHERBCAM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCAM 
Mutations
ICGC Data PortalBCAM 
TCGA Data PortalBCAM 
Broad Tumor PortalBCAM
OASIS PortalBCAM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCAM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCAM
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 BCAM
DgiDB (Drug Gene Interaction Database)BCAM
DoCM (Curated mutations)BCAM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCAM (select a term)
intoGenBCAM
Cancer3DBCAM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111200    247420    612773   
Orphanet
MedgenBCAM
Genetic Testing Registry BCAM
NextProtP50895 [Medical]
TSGene4059
GENETestsBCAM
Target ValidationBCAM
Huge Navigator BCAM [HugePedia]
snp3D : Map Gene to Disease4059
BioCentury BCIQBCAM
ClinGenBCAM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4059
Chemical/Pharm GKB GenePA30484
Clinical trialBCAM
Miscellaneous
canSAR (ICR)BCAM (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCAM
EVEXBCAM
GoPubMedBCAM
iHOPBCAM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:55:57 CEST 2017

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