Source: hRBCD ; ID: IPI00044556
BGMUT ; ID: scianna
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: ERMAP , RD, SC
Protein names and data: ERMAP_HUMAN , Erythroid membrane-associated protein; hERMAP , Radin blood group antigen; Scianna blood group antigen; Flags: Precursor Lenght: 475 a.a.
Mass: 52605 Da
fasta formatted sequence

Function: Possible role as a cell-adhesion or receptor molecule of erythroid cells.
Cellular location: Cell membrane; Single-pass type I membrane protein. Cytoplasm.
Tissue specificity: Expressed in erythroid-enriched bone marrow (at protein level). Highly expressed in bone marrow and to a lower extent in leukocytes, thymus, lymph node and spleen.

Genetic variants

ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens. The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd(+), the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn.

Database cross-references

UniProt: Q96PL5
Ensembl: ENST00000372514
Ensembl: ENST00000372517
MIM: 111620
MIM: 111750
MIM: 609017
neXtProt: NX_Q96PL5
Antibodypedia: Q96PL5 (may not find the protein thus also not any antibody)
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