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Aliases for BCAM Gene

Aliases for BCAM Gene

  • Basal Cell Adhesion Molecule (Lutheran Blood Group) 2 3 5
  • Basal Cell Adhesion Molecule (Lu And Au Blood Groups) 2 3
  • B-CAM Cell Surface Glycoprotein 3 4
  • Auberger B Antigen 3 4
  • F8/G253 Antigen 3 4
  • MSK19 3 4
  • LU 3 4
  • Lutheran Blood Group (Auberger B Antigen Included) 2
  • Lutheran Blood Group Variant LUGA 3
  • Lutheran Blood Group Glycoprotein 4
  • Basal Cell Adhesion Molecule 3
  • B-Cell Adhesion Molecule 3
  • Lutheran Antigen 4
  • CD239 Antigen 4
  • CD239 3
  • AU 3

External Ids for BCAM Gene

Previous HGNC Symbols for BCAM Gene

  • LU

Previous GeneCards Identifiers for BCAM Gene

  • GC19P050005
  • GC19P045312
  • GC19P041744

Summaries for BCAM Gene

Entrez Gene Summary for BCAM Gene

  • This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for BCAM Gene

BCAM (Basal Cell Adhesion Molecule (Lutheran Blood Group)) is a Protein Coding gene. Diseases associated with BCAM include Testicular Gonadoblastoma and Sickle Cell Disease. GO annotations related to this gene include transmembrane signaling receptor activity and laminin binding. An important paralog of this gene is MCAM.

UniProtKB/Swiss-Prot for BCAM Gene

  • Laminin alpha-5 receptor. May mediate intracellular signaling.

Gene Wiki entry for BCAM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAM Gene

Genomics for BCAM Gene

Regulatory Elements for BCAM Gene

Enhancers for BCAM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G044844 1.8 FANTOM5 ENCODE dbSUPER 10.6 +39.0 38956 7.3 CREB3L1 AGO1 YBX1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 MCM3 ZNF180 ZNF45 LOC100505715 ZNF225 ZNF284 ZNF285 ZNF224 ZNF234 LOC100379224 ENSG00000267191
GH19G044923 1.7 FANTOM5 Ensembl ENCODE 6.1 +117.0 116953 4.3 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 APOC1P1 APOC2 APOC4 IGSF23 BCAM APOE APOC1 GC19P044915
GH19G044800 1.2 Ensembl ENCODE 7.6 -8.6 -8649 0.8 HDGF ARID4B SIN3A ZNF48 ZNF143 ZNF263 SP3 SP5 MXD4 REST ENSG00000252200 RELB BCAM PIR44195 GC19M044777
GH19G044807 1 ENCODE 7.5 -0.7 -654 3.5 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 ZNF143 ENSG00000252200 CEACAM19 APOE BCAM ZNF404 PIR44195
GH19G044909 1.4 Ensembl ENCODE 4.9 +103.6 103630 6.3 HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS APOE RELB NECTIN2 BCAM GC19M044904 APOC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAM on UCSC Golden Path with GeneCards custom track

Promoters for BCAM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000288654 -59 401 NFIB ZBTB40 ZNF48 RARA GLIS2 GATA4 THAP11 MIXL1 SP3 SP5
ENSR00000110106 841 201

Genomic Location for BCAM Gene

Chromosome:
19
Start:
44,809,059 bp from pter
End:
44,821,421 bp from pter
Size:
12,363 bases
Orientation:
Plus strand

Genomic View for BCAM Gene

Genes around BCAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAM Gene

Proteins for BCAM Gene

  • Protein details for BCAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50895-BCAM_HUMAN
    Recommended name:
    Basal cell adhesion molecule
    Protein Accession:
    P50895
    Secondary Accessions:
    • A8MYF9
    • A9YWT5
    • A9YWT6
    • Q86VC7

    Protein attributes for BCAM Gene

    Size:
    628 amino acids
    Molecular mass:
    67405 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW57297.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCAM Gene

neXtProt entry for BCAM Gene

Post-translational modifications for BCAM Gene

  • Epinephrine-stimulated phosphorylation of Ser-621 by PKA enhances adhesion to laminin.
  • Glycosylation at posLast=321321, Asn377, Asn383, posLast=419419, and Asn439
  • Modification sites at PhosphoSitePlus

Other Protein References for BCAM Gene

Antibody Products

  • Abcam antibodies for BCAM

Assay Products

  • Cloud-Clone Corp. Assay Kits for BCAM

No data available for DME Specific Peptides for BCAM Gene

Domains & Families for BCAM Gene

No data available for UniProtKB/Swiss-Prot for BCAM Gene

Function for BCAM Gene

Molecular function for BCAM Gene

UniProtKB/Swiss-Prot Function:
Laminin alpha-5 receptor. May mediate intracellular signaling.

Gene Ontology (GO) - Molecular Function for BCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 7777537
GO:0005055 laminin receptor activity IMP 16236823
GO:0005515 protein binding IPI 25416956
GO:0008022 protein C-terminus binding IDA 24453976
GO:0043236 laminin binding IMP 16236823
genes like me logo Genes that share ontologies with BCAM: view
genes like me logo Genes that share phenotypes with BCAM: view

Animal Models for BCAM Gene

MGI Knock Outs for BCAM:

Animal Model Products

  • Taconic Biosciences Mouse Models for BCAM

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BCAM
  • Applied Biological Materials Clones for BCAM

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCAM Gene

Localization for BCAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAM Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAM gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 9166867
GO:0005887 integral component of plasma membrane TAS 7777537
GO:0009897 external side of plasma membrane IC 16236823
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BCAM: view

Pathways & Interactions for BCAM Gene

No Data Available

Gene Ontology (GO) - Biological Process for BCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 7954395
GO:0007160 cell-matrix adhesion IMP 16236823
GO:0007165 signal transduction TAS 7777537
genes like me logo Genes that share ontologies with BCAM: view

No data available for Pathways by source and SIGNOR curated interactions for BCAM Gene

Drugs & Compounds for BCAM Gene

No Compound Related Data Available

Transcripts for BCAM Gene

Unigene Clusters for BCAM Gene

Basal cell adhesion molecule (Lutheran blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BCAM
  • Applied Biological Materials Clones for BCAM

Alternative Splicing Database (ASD) splice patterns (SP) for BCAM Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15
SP1: - - - - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for BCAM Gene

GeneLoc Exon Structure for
BCAM
ECgene alternative splicing isoforms for
BCAM

Expression for BCAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCAM Gene

This gene is overexpressed in Kidney - Cortex (x5.3) and Artery - Tibial (x5.0).

Protein differential expression in normal tissues from HIPED for BCAM Gene

This gene is overexpressed in Lung (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCAM Gene



Protein tissue co-expression partners for BCAM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCAM Gene:

BCAM

SOURCE GeneReport for Unigene cluster for BCAM Gene:

Hs.625725

mRNA Expression by UniProt/SwissProt for BCAM Gene:

P50895-BCAM_HUMAN
Tissue specificity: Wide tissue distribution (highest in the pancreas and very low in brain). Closely associated with the basal layer of cells in epithelia and the endothelium of blood vessel walls.

Evidence on tissue expression from TISSUES for BCAM Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Bone marrow(4.2)
  • Kidney(2.9)
  • Lung(2.6)
  • Heart(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with BCAM: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAM Gene

Orthologs for BCAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCAM 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia BCAM 34 35
  • 84.18 (n)
cow
(Bos Taurus)
Mammalia BCAM 34 35
  • 82.27 (n)
rat
(Rattus norvegicus)
Mammalia Bcam 34
  • 76.26 (n)
mouse
(Mus musculus)
Mammalia Bcam 34 16 35
  • 75.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCAM 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAM 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcam 34
  • 47.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536698 34
  • 49.38 (n)
BCAM (1 of 2) 35
  • 33 (a)
OneToMany
bcam 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for BCAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCAM Gene

ENSEMBL:
Gene Tree for BCAM (if available)
TreeFam:
Gene Tree for BCAM (if available)

Paralogs for BCAM Gene

Paralogs for BCAM Gene

(1) SIMAP similar genes for BCAM Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BCAM: view

Variants for BCAM Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BCAM Gene

BCAM_HUMAN-P50895
BCAM is responsible for the Lutheran blood group system (LU) [MIM:111200]. Lutheran is a complex blood group system consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg-77.
BCAM_HUMAN-P50895
Inactivating variants in BCAM are responsible for the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group [MIM:247420]. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum.

Sequence variations from dbSNP and Humsavar for BCAM Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121918132 Pathogenic 44,813,527(+) ATGAC(C/T)GAGAC reference, stop-gained
rs121918133 Pathogenic 44,812,319(+) ACGAG(C/T)GAGAC reference, stop-gained
rs3810141 Pathogenic 44,813,547(-) GCGGC(A/G/T)CAGTG reference, synonymous-codon
rs1135062 Benign 44,819,487(+) TCGGC(A/G)CCGGT reference, missense
rs28399653 Benign 44,812,188(+) CCCCC(A/C/G)CCTAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BCAM Gene

Variant ID Type Subtype PubMed ID
nsv579861 CNV gain 21841781
nsv579862 CNV gain 21841781
nsv579863 CNV gain 21841781

Variation tolerance for BCAM Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCAM Gene

Human Gene Mutation Database (HGMD)
BCAM
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAM

Disorders for BCAM Gene

MalaCards: The human disease database

(7) MalaCards diseases for BCAM Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BCAM in MalaCards View complete list of genes associated with diseases

Relevant External Links for BCAM

Genetic Association Database (GAD)
BCAM
Human Genome Epidemiology (HuGE) Navigator
BCAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAM
genes like me logo Genes that share disorders with BCAM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCAM Gene

Publications for BCAM Gene

  1. Use of domain-deletion mutants to locate Lutheran blood group antigens to each of the five immunoglobulin superfamily domains of the Lutheran glycoprotein: elucidation of the molecular basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. (PMID: 9166867) Parsons S.F. … Anstee D.J. (Blood 1997) 3 4 22 64
  2. Organization of the human LU gene and molecular basis of the Lu(a)/Lu(b) blood group polymorphism. (PMID: 9192786) El Nemer W. … Le Van Kim C. (Blood 1997) 3 4 22 64
  3. Molecular cloning of the B-CAM cell surface glycoprotein of epithelial cancers: a novel member of the immunoglobulin superfamily. (PMID: 7954395) Campbell I.G. … Rettig W.J. (Cancer Res. 1994) 3 4 22 64
  4. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. (PMID: 20370913) Ma L. … Da Y. (BMC Med. Genet. 2010) 3 46 64
  5. Identification and characterization of Lutheran blood group glycoprotein as a new substrate of membrane-type 1 matrix metalloproteinase 1 (MT1-MMP): a systemic whole cell analysis of MT1-MMP-associating proteins in A431 cells. (PMID: 19667067) Niiya D. … Seiki M. (J. Biol. Chem. 2009) 3 22 64

Products for BCAM Gene

  • Addgene plasmids for BCAM

Sources for BCAM Gene

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