RHBDF2 Gene Summary [Human]
Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | RHBDF2 |
| Official Name | rhomboid 5 homolog 2 [Source:HGNC Symbol;Acc:HGNC:20788] |
| Ensembl ID | ENSG00000129667 |
| Bio databases IDs | |
| Aliases | rhomboid 5 homolog 2 |
| Synonyms | 4732465I17Rik, cub, iRhom2, RHBDL5, RHBDL6, rhomboid 5 homolog 2, TOC, TOCG, Uncv |
| 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 RHBDF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GtrA-like protein
- protein binding
- Rhomboid family
- Rhomboid serine protease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- epithelial neoplasia
- cancer
- psoriasis
- hepatocellular carcinoma
- liver cancer
- organismal death
- tylosis with esophageal cancer syndrome
- gastrointestinal neoplasia
- digestive system cancer
role in cell
- expression in
- phosphorylation in
- proliferation
- growth
- migration
- accumulation in
- repopulation by
- shedding in
- function
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
- Golgi lumen
- cell surface
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RHBDF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of inflammatory response to antigenic stimulus
- regulation of protein secretion
- negative regulation of protein secretion
- protein transport
- regulation of epidermal growth factor receptor signaling pathway
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi lumen
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- growth factor binding
- protein binding
- serine-type endopeptidase activity