GYPB Chromosome 4
Glycophorin B (MNS blood group)
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What This Gene Does
Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss 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, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Blood group antigens|CD molecules"
Locus Type
gene with protein product
Location
4q31.21
Ensembl
ENSG00000250361
Associated Conditions (2)
BLOOD GROUP
Ss
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374811215 | Health Risk | association | BLOOD GROUP, Ss, BLOOD GROUP |