|Blood Group Antigen Gene Mutation Database|
|Home | Systems | Resources | Administration | About||25-May-2013|
Raph Blood Group System
Gene locus - CD151
MER2 antigen defines the Raph blood group system. As shown recently by Crew et al. (Blood, 2003, 102, p4a) the antigen is located on CD151 glycoprotein which is a member of the four-transmembrane (TM4SF, tetraspanins) superfamily of proteins (show four conserved transmembrane domains). The protein was first characterized on platelet surface (GP27) but, has now been shown to have a wide tissue distribution and is also expressed on the surface of erythrocytes. It is an adhesion molecule.
The gene on chromosome 11p15.5 is organized in 8 exons and spans 4.3 kb; exons 2-8 encode the protein.
Function of proteins
Interacts with alpha-beta integrins and laminin participating in cell adhesion, proliferation and differentiation; may be involved in the structure and development of the glomerulus and the glomerular basement membrane in man. In cancer cells enhances cell motility, invasion and metastasis.
Expressed in many tissues including epithelium, endothelium, muscle, renal glomeruli and tubules, Schwann and dendritic cells; fibroblasts and other cell lines.
Failure to express full lenght CD151 was shown to be associated in some individuals with glomeluralonephritis and renal failure (Crew et al., Blood, 2004 104 2217-2223).
The Raph blood group system is defined by a single antigen MER2, first recognized by a monoclonal antibody MER2. The antigen is expressed on erythrocytes of about 92% of Caucasians but the level of expression of MER2 varies among individuals; the remaining 8% of individuals are MER2 negative. Crew et al. (Blood, 2003, 102, p4a) identified CD151 as the protein that carries the MER2 antigen. Sequencing of CD151 gene in four MER2 negative individuals who produced alloanti-MER2, identified specific mutations, one of which, resulting in a frameshift and truncation of the protein, occurred in three patients with renal failure. In the list of alleles the sequence acc. no. BT007397 is taken as reference.
Other database IDs and links
Marion E. Reid, Immunohematology, New York Blood Center, 310 East 67 St., New York, N.Y., 10021
Olga O. Blumenfeld, Dept. of Biochemistry, Albert Einstein College of Medicine, New York, N.Y., 10461
Contributors for specific alleles are listed with the alleles.
Updated 2008-12-17 20:05:34.043