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 bl... See more...

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
  • Basal Cell Adhesion Molecule 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
  • 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 Lutheran Null and Sickle Cell Disease. Gene Ontology (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 Summary for BCAM Gene

Gene Wiki entry for BCAM Gene

Additional gene information for BCAM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCAM Gene

Genomics for BCAM Gene

GeneHancer (GH) Regulatory Elements for BCAM Gene

Promoters and enhancers for BCAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J044806 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 507.4 -0.4 -434 4 ZNF217 CTCF TCF12 POLR2G PHF8 TEAD4 ZIC2 KDM6A CLOCK ZBTB26 BCAM ENSG00000252200 CEACAM19 APOE ZNF404 piR-50196
GH19J044843 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +38.7 38727 7.8 HNRNPK ZNF217 CTCF NRF1 TCF12 MYC POLR2G USF1 BCLAF1 NONO NECTIN2 ZNF180 ZNF45 LOC100505715 ZNF225 ZNF285 ZNF234 ZNF227 ENSG00000267191 ZNF284
GH19J044909 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.9 +103.7 103709 6.5 CTCF NRF1 POLR2G USF1 SP1 PHF8 JUND FOS ZBTB5 ZIC2 APOC1 piR-56133-114 APOE RELB NECTIN2 BCAM ENSG00000280087 lnc-APOC1-1
GH19J044923 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 6.1 +116.9 116885 4.1 EP300 FOXK2 POLR2G USF1 SP1 NCOR1 KDM6A ZBTB10 TCF7 FOXA1 APOC1P1 APOC2 APOC4 IGSF23 BCAM APOE APOC1 piR-56022-272 lnc-APOC1-1
GH19J044800 Enhancer 0.9 ENCODE 7.6 -8.7 -8672 0.7 FOXK2 ZNF217 CTCF TCF12 SP1 TARDBP REST RAD21 CTBP1 SKI ENSG00000252200 RELB BCAM ENSG00000285128 CBLC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAM on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAM

Top Transcription factor binding sites by QIAGEN in the BCAM gene promoter:
  • ATF-2
  • CRE-BP1
  • E47
  • GR
  • HEN1
  • HNF-4alpha1
  • NRSF form 1
  • NRSF form 2
  • p53
  • Spz1

Genomic Locations for BCAM Gene

Genomic Locations for BCAM Gene
chr19:44,809,059-44,821,421
(GRCh38/hg38)
Size:
12,363 bases
Orientation:
Plus strand
chr19:45,312,328-45,324,678
(GRCh37/hg19)
Size:
12,351 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 Asn321, Asn377, Asn383, Asn419, and Asn439
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for BCAM Gene

No data available for DME Specific Peptides for BCAM Gene

Domains & Families for BCAM Gene

Gene Families for BCAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BCAM Gene

Blocks:
  • Immunoglobulin C-2 type
  • CD80-like C2-set immunoglobulin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAM Gene

GenScript: Design optimal peptide antigens:
  • Lutheran blood group glycoprotein (BCAM_HUMAN)
  • Lutheran blood group (D0AB06_HUMAN)
  • Lutheran blood group (D0AB07_HUMAN)
  • Lutheran blood group (D0AB08_HUMAN)
genes like me logo Genes that share domains with BCAM: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for BCAM Gene

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

Clone Products

  • Addgene plasmids 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 3
nucleus 3
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA 27068509
GO:0005886 plasma membrane IEA,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 --
genes like me logo Genes that share ontologies with BCAM: view

Pathways & Interactions for BCAM Gene

PathCards logo

SuperPathways 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

mRNA/cDNA for BCAM Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids 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

Expression for BCAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for BCAM Gene



Protein tissue co-expression partners for BCAM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3)
  • Lung(2.6)
  • Heart(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with BCAM: view

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 31 30
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCAM 31 30
  • 84.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCAM 31 30
  • 82.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcam 30
  • 76.26 (n)
mouse
(Mus musculus)
Mammalia Bcam 17 31 30
  • 75.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCAM 31
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAM 31
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcam 30
  • 47.16 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536698 30
  • 49.38 (n)
BCAM (1 of 2) 31
  • 33 (a)
OneToMany
bcam 31
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BCAM: view image

Paralogs for BCAM Gene

Paralogs for BCAM Gene

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

  • BCAM_HUMAN
  • K7ENU8_HUMAN
  • K7ERB7_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAM Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
708620 Benign: not provided 44,814,595(+) G/A INTRON_VARIANT
713731 Benign: not provided 44,819,583(+) G/A SYNONYMOUS_VARIANT
713797 Benign: not provided 44,818,584(+) G/A MISSENSE_VARIANT
715319 Likely Benign: not provided 44,819,702(+) G/A MISSENSE_VARIANT
740467 Benign: not provided 44,813,568(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BCAM Gene

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)

Additional Variant Information for BCAM Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for BCAM Gene

MalaCards: The human disease database

(5) MalaCards diseases for BCAM Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lutheran null
  • recessive lu phenotype
sickle cell disease
  • scd
testicular gonadoblastoma
esophagus carcinoma in situ
  • carcinoma in situ of esophagus
gray platelet syndrome
  • gps
- elite association - COSMIC cancer census association via MalaCards
Search BCAM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCAM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SF … Anstee DJ (Blood 1997) 3 4 23 54
  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 23 54
  3. Molecular cloning of the B-CAM cell surface glycoprotein of epithelial cancers: a novel member of the immunoglobulin superfamily. (PMID: 7954395) Campbell IG … Rettig WJ (Cancer research 1994) 3 4 23 54
  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 medical genetics 2010) 3 41 54
  5. Polymorphic analysis of the Lutheran blood group system in Chinese. (PMID: 19201739) Zeng JQ … Yu Q (Annals of clinical and laboratory science 2009) 3 41 54

Products for BCAM Gene

Sources for BCAM Gene