EPB42 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EPB42 |
| Official Name | erythrocyte membrane protein band 4.2 [Source:HGNC Symbol;Acc:HGNC:3381] |
| Ensembl ID | ENSG00000166947 |
| Bio databases IDs | |
| Aliases | erythrocyte membrane protein band 4.2, Erythrocyte surface protein band 4.2 |
| Synonyms | BAND4.2, Epb4.2, erythrocyte membrane protein band 4.2, P4.2, PA, SPH5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EPB42 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transglutaminase-like superfamily
- Transglutaminase/protease-like homologues
- structural constituent of cytoskeleton
- ATP binding
- protein binding
- Transglutaminase family, C-terminal ig like domain
- transporter
- Transglutaminase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary spherocytosis type 5
- osteoporosis
- sickle cell anemia
- anemia
- COVID-19
- aortic valve calcification
- Alzheimer disease
- papillary thyroid carcinoma
- papillary thyroid cancer
- hereditary spherocytosis
role in cell
- expression in
- quantity
- number
- attachment
- release
- morphogenesis
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cortical cytoskeleton
- cytoskeleton
- intracellular space
- cellular membrane
- Nucleus
- erythrocyte membrane
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPB42 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- multicellular organismal iron ion homeostasis
- cytoskeleton organization
- cell morphogenesis
- spleen development
- peptide cross-linking
- hemoglobin metabolic process
- erythrocyte maturation
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- plasma membrane
- cortical cytoskeleton
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein-glutamine gamma-glutamyltransferase activity
- protein binding
- structural constituent of cytoskeleton