GYPA (Glycophorin A)
Major sialoglycoprotein of the human erythrocyte membrane, defining MN blood group system
Gene Information Card
| Symbol | GYPA |
|---|---|
| Full Name | Glycophorin A (MNS blood group) |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.21 |
| NCBI Gene ID | 2993 ncbi.nlm.nih.gov/gene/2993 |
| Ensembl ID | ENSG00000170180 |
| UniProt ID | P02724 |
| OMIM ID | 111300 |
| HGNC ID | 4702 |
| Aliases | GPA, MNS, MN, GYPA |
Description
GYPA encodes glycophorin A, a major sialoglycoprotein of the human erythrocyte membrane. It carries the M and N blood group antigens and is involved in red cell membrane integrity and interactions with pathogens such as Plasmodium falciparum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MN blood group system | GYPA variants define M and N antigens; no disease directly caused by GYPA mutations | OMIM #111300 |
| Malaria resistance | GYPA polymorphisms may influence susceptibility to Plasmodium falciparum invasion | NCBI Gene review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | nTPM not available (erythroid-specific) | High (erythrocytes) |
| Bone marrow | nTPM not available | High (erythroid precursors) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythrocytes | nTPM not available | Major membrane protein |
| K562 (erythroleukemia) | nTPM not available | Expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.59C>T (p.Thr20Met) | missense | Common (M/N polymorphism) | Alters MN blood group antigen |
| c.71G>A (p.Gly24Glu) | missense | Common (M/N polymorphism) | Alters MN blood group antigen |
Mutation functional classification
Loss of Function (LOF)
Not reported; GYPA is essential for erythrocyte membrane stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • structural molecule activity (GO:0005198) | • cell adhesion (GO:0007155) |
Pathways
• Erythrocyte membrane protein interactions
Protein Summary
Glycophorin A (GPA) is a 131-amino acid transmembrane sialoglycoprotein with a heavily glycosylated extracellular domain. It carries the MN blood group antigens and contributes to the negative charge of the erythrocyte surface, reducing cell-cell interactions and preventing aggregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GYPA Knockout HEK293 Cell Line | EDJ-KQ50325 | Human | 2993 | Details Get a Quote |
| GYPA Knockout HeLa Cell Line | EDJ-KQ53464 | Human | 2993 | Details Get a Quote |
| GYPA Knockout A-549 Cell Line | EDJ-KQ61936 | Human | 2993 | Details Get a Quote |
| GYPA Knockout HCT 116 Cell Line | EDJ-KQ70417 | Human | 2993 | Details Get a Quote |
