TMTC2 Gene Summary [Human]
The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Details
| Type | Retained Intron |
| Official Symbol | TMTC2 |
| Official Name | transmembrane O-mannosyltransferase targeting cadherins 2 [Source:HGNC Symbol;Acc:HGNC:25440] |
| Ensembl ID | ENSG00000179104 |
| Bio databases IDs | |
| Aliases | transmembrane O-mannosyltransferase targeting cadherins 2 |
| Synonyms | 8430438D04RIK, D330034A10Rik, IBDBP1, RGD1309848, transmembrane and tetratricopeptide repeat containing 2, transmembrane O-mannosyltransferase targeting cadherins 2 |
| 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 TMTC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of Unknown Function (DUF3856)
- TPR repeat
- Tetratricopeptide repeats
- Protein O-mannosyl-transferase TMTC, DUF1736
- enzyme
- protein binding
- tetratricopeptide repeat
- dolichyl-phosphate-mannose-protein mannosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMTC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion homeostasis
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- mannosyltransferase activity
- dolichyl-phosphate-mannose-protein mannosyltransferase activity