• Gene id: 4059

Gene Summary

• Gene Symbol: BCAM   Gene   UCSC   Ensembl
• Aliases: AU, CD239, LU, MSK19
• Gene name: basal cell adhesion molecule (Lutheran blood group)
• Alternate names: basal cell adhesion molecule, Auberger b antigen, B-CAM cell surface glycoprotein, B-cell adhesion molecule, F8/G253 antigen, Lutheran blood group variant LUGA, basal cell adhesion molecule (Lu and Au blood groups),
• Gene location: 19q13.32 (13103750: 13097165)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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, an
• OMIM: 612773

Protein Summary

• Protein general information: P50895  
  • Name: Basal cell adhesion molecule (Auberger B antigen) (B CAM cell surface glycoprotein) (F8/G253 antigen) (Lutheran antigen) (Lutheran blood group glycoprotein) (CD antigen CD239)
  • Length: 628  
  • Mass: 67405
  • 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.
• Sequence:

  MEPPDAPAQARGAPRLLLLAVLLAAHPDAQAEVRLSVPPLVEVMRGKSVILDCTPTGTHDHYMLEWFLTDRSGAR
  PRLASAEMQGSELQVTMHDTRGRSPPYQLDSQGRLVLAEAQVGDERDYVCVVRAGAAGTAEATARLNVFAKPEAT
  EVSPNKGTLSVMEDSAQEIATCNSRNGNPAPKITWYRNGQRLEVPVEMNPEGYMTSRTVREASGLLSLTSTLYLR
  LRKDDRDASFHCAAHYSLPEGRHGRLDSPTFHLTLHYPTEHVQFWVGSPSTPAGWVREGDTVQLLCRGDGSPSPE
  YTLFRLQDEQEEVLNVNLEGNLTLEGVTRGQSGTYGCRVEDYDAADDVQLSKTLELRVAYLDPLELSEGKVLSLP
  LNSSAVVNCSVHGLPTPALRWTKDSTPLGDGPMLSLSSITFDSNGTYVCEASLPTVPVLSRTQNFTLLVQGSPEL
  KTAEIEPKADGSWREGDEVTLICSARGHPDPKLSWSQLGGSPAEPIPGRQGWVSSSLTLKVTSALSRDGISCEAS
  NPHGNKRHVFHFGTVSPQTSQAGVAVMAVAVSVGLLLLVVAVFYCVRRKGGPCCRQRREKGAPPPGEPGLSHSGS
  EQPEQTGLLMGGASGGARGGSGGFGDEC

• Structural information:
  • Protein Domains: (32..14-)
    1 (/note="Ig-like-V-type)
    (147..25-)
    2 (/note="Ig-like-V-type)
    (274..35-)
    1 (/note="Ig-like-C2-type)
    (363..44-)
    2 (/note="Ig-like-C2-type)
    (448..54-)
    3" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  IPR013106  
  • Prosite: PS50835
  • PDB: 2PET 2PF6
  • PDBsum: 2PET 2PF6
  • STRING: ENSP00000270233
• Other Databases: GeneCards:  BCAM  Malacards:  BCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008022	protein C-terminus binding	IDA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005055	laminin receptor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005055	laminin receptor activity	IMP	molecular function
GO:0043236	laminin binding	IMP	molecular function
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0009897	external side of plasma membrane	IC	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq