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Gene : BCAM Homo sapiens

Name  ? basal cell adhesion molecule (Lutheran blood group) Cytological Location  19q13.32
Brief Description  basal cell adhesion molecule (Lutheran blood group)
Description  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]
  • synonyms:
  • OTTHUMG00000180838,
  • BCAM,
  • HGNC:6722,
  • CD239,
  • CD239,
  • LU,
  • basal cell adhesion molecule (Lu and Au blood groups),
  • Lutheran blood group (Auberger b antigen included),
  • X83425,
  • NM_005581,
  • LU,
  • AU,
  • uc002ozu.5,
  • MSK19
  • identifiers:
  • 4059,
  • ENSG00000187244,
  • BCAM

Genome feature

Region: gene ? Length: 12363  
Location: 19:44809059-44821421 Cyto location: 19q13.32


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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0 Pathways

170 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results