EPB41L2 Gene Summary [Human]
Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in cell junction; nucleoplasm; and plasma membrane. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | EPB41L2 |
| Official Name | erythrocyte membrane protein band 4.1 like 2 [Source:HGNC Symbol;Acc:HGNC:3379] |
| Ensembl ID | ENSG00000079819 |
| Bio databases IDs | |
| Aliases | erythrocyte membrane protein band 4.1 like 2 |
| Synonyms | 4.1-G, D10Ertd398e, Epb4.1l2, erythrocyte membrane protein band 4.1-like 2, NBL2, RGD1563977 |
| 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 EPB41L2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FERM central domain
- Band 4.1 homologues
- SAB domain
- spectrin binding
- protein binding
- Pleckstrin homology-like domain
- PH-domain binding
- FERM N-terminal domain
- FERM adjacent (FA)
- actin binding
- Ubl1_cv_Nsp3_N-like
- spectrin-actin binding domain
- FERM domain B-lobe
- 4.1 protein C-terminal domain (CTD)
- FERM C-terminal PH-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric cancer
- aortic valve calcification
- lung adenocarcinoma
- lung adenocarcinoma formation
- breast cancer
- prostate cancer
- neuroticism
- urolithiasis
- male pattern hair loss
- sialadenitis
role in cell
- cell viability
- binding
- morphology
- organization
- Clathrin mediated endocytosis by
- aggregation in
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
- cell junction
- Cytoplasm
- cellular membrane
- actin cytoskeleton
- cell cortex
- Nucleus
- cell-cell contacts
- cytosol
- periaxonal membranes
- nucleoplasm
- spindle pole
- paranodal loops
- Schmidt-Lanterman incisures
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPB41L2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- cortical actin cytoskeleton organization
- actomyosin structure organization
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- extracellular vesicular exosome
- focal adhesion
- cell cortex
- cell junction
- cytosol
- signalosome
- spectrin
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- spectrin binding
- actin binding
- structural molecule activity
- PH domain binding