erythrocyte membrane protein band 4.2
Symbol
EPB42
(may also be known as: None)
Organism
Human
Description
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| Epb42 | Mus musculus | |
| Epb42 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
| Identifier | Name | Type | Tissues | Organism | Gene | Data | Actions |
|---|---|---|---|---|---|---|---|
| DAA2796 | Gene expression of EPB42 increases with age | Molecular | adipose tissue | Human | EPB42 | — |
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0008360 | regulation of cell shape | biological_process | |
| GO:0018149 | peptide cross-linking | biological_process | |
| GO:0043249 | erythrocyte maturation | biological_process | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005856 | cytoskeleton | cellular_component | |
| GO:0005886 | plasma membrane | cellular_component | |
| GO:0003810 | protein-glutamine gamma-glutamyltransferase activity | molecular_function | |
| GO:0005200 | structural constituent of cytoskeleton | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0005524 | ATP binding | molecular_function | |