The protein contains 253 amino acids for an estimated molecular weight of 28295 Da.
Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.', '(Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
---|---|---|---|---|---|
Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is predicted to be membranous by TOPCONS.
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Variant | Description |
---|---|
dbSNP:rs34215390 | |
empty | |
dbSNP:rs1431926999 | |
dbSNP:rs779114765 |
The reference OMIM entry for this protein is 179620
A number sign (#) is used with this entry because of evidence that the MER2 (RAPH) blood group antigen is determined by an epitope on the CD151 tetraspanin protein (602243). Among the surprisingly large number of cell surface antigens that are coded by genes on chromosome 11, 3 are found on erythrocytes: S1 (151250), S3, and MER2. The last was identified by means of a murine monoclonal antibody and was named for the Eleanor Roosevelt Institute of Cancer Research in Denver where it was discovered (Daniels et al., 1987); MER stands for 'monoclonal Eleanor Roosevelt.' Among English blood donors, 92% were found to be MER2+, giving a gene frequency for the MER2+ allele of 0.7159. Family studies showed that MER2+ is inherited as an autosomal dominant and is independent of any of the main blood group loci. Daniels et al. (1988) found 3 examples of an antibody detecting a red cell polymorphism probably identical to MER2. The antibodies were made by Jews originating from India and living in Israel. Two of them were sibs and the third was unrelated. All 3 had kidney disease requiring renal dialysis and regular blood transfusion. In 2 cases the antibodies were detected before dialysis was started and before the patients had been transfused. The human antibodies reacted with red cells in 90% of Israeli blood donors tested. In tests on selected blood donors, 82 English and 56 Israeli, 1 of the human antibodies gave almost identical reactions to those given by monoclonal anti-MER2. Kagan et al. (1988) described the association of nephritis and pretibial epidermolysis bullosa in the 2 MER2-negative sibs who had end-stage renal disease (609057) (Daniels et al., 1988; Kagan et al., 1988). Karamatic Crew et al. (2004) showed that all 3 MER2-negative individuals were homozygous for a single-nucleotide insertion (G383) in exon 5 of CD151, causing a frameshift and a premature stop signal in codon 140 (602243.0001). The 3 MER2-negative individuals also had deafness and beta-thalassemia minor. The findings suggested that CD151, which is labeled by the MER2 epitope, is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis. Verhoeven et al. (1998) found an allo-anti-MER2 in a healthy female blood donor. The subject was a 30-year-old healthy Turkish female who had no history of kidney disease and had never been transfused but had had 2 pregnancies. The donor cells were negative for both monoclonal and polyclonal anti-MER2. The cells of her husband, mother, and brother were incompatible.
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 179620 was added.
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).