Preferred Label : GYPB wt Allele;
NCIt synonyms : Glycophorin Hop Gene; Glycophorin B Blood Group Antigen Gene; CD235b; Glycophorin B (Ss Blood Group) Gene; Glycophorin B (Includes Ss Blood Group) Gene; Glycophorin, Delta Gene; GPB; Blood Group System MNSs, Mur-Like Gene; Ss Blood Group Gene; Blood Group System MNSs, St(A) Type E Gene; MNS; GYP; SS; Glycophorin B, Blood Group System Ss, S, Mit Gene; Blood Group System MNSs, St(A) Type F Gene; Glycophorin B (MNS Blood Group) wt Allele; PAS-3;
NCIt definition : Human GYPB wild-type allele is located in the vicinity of 4q31.21 and is approximately
24 kb in length. This allele, which encodes glycophorin-B protein, plays a role in
Ss blood group determination. Rearrangements involving this gene and the GYPA gene
are associated with low-incidence antigens in the MN and Ss blood groups. Mutation
of the gene may be associated with resistance to malaria.;
NCIt note : Along with GYPA, GYPB bears the antigenic determinants for the M/N and S/s blood groups.
GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5'
UTR to the coding sequence encoding the first 45 amino acids. In addition to the M
or N and S or s antigens, which are common in all populations, about 40 related variant
phenotypes have been identified. These variants include Dantu, Sat, He, Mg, all the
variants of the Miltenberger complex and several isoforms of Sta, and deletion variants
Ena, S-s-U- and Mk. Most variants result from recombinations between GYPA and GYPB.
(EntrezGene);
NCI Metathesaurus CUI : CL1798799;
GenBank Accession Number : NM_002100;
Origin ID : C190140;
UMLS CUI : C5780792;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
