MUC2 Gene Summary [Human]
This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | MUC2 |
| Official Name | mucin 2, oligomeric mucus/gel-forming [Source:HGNC Symbol;Acc:HGNC:7512] |
| Ensembl ID | ENSG00000198788 |
| Bio databases IDs | |
| Aliases | mucin 2, oligomeric mucus/gel-forming |
| Synonyms | 2010015E03Rik, AABR07006030.1, AEKR01108343.1, HH-Muc, LOC100039649, LOC100294420, LOC100862174, LOC682800, LOC682824, MCM, MLP, mucin 2, mucin 2, oligomeric mucus/gel-forming, SMUC, wnn |
| 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 MUC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- copper ion binding
- Glycoprotein hormone beta chain homologues
- Trypsin Inhibitor like cysteine rich domain
- von Willebrand factor type C domain
- trypsin inhibitor-like cysteine rich domain
- Mucin-2 protein WxxW repeating region
- von Willebrand factor type D domain
- extracellular matrix structural constituent
- protein binding
- von Willebrand factor (vWF) type D domain
- C8 domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- organismal death
- bleeding
- epithelial cancer
- epithelial neoplasia
- cancer
- adenoma formation
- benign neoplasia
- colon adenocarcinoma
regulated by
- ST6GALNAC1
- cyclosporin A
- tretinoin
- lipopolysaccharide
- NS-398
- nontypeable Haemophilus influenzae strain 12
- SP1
- NFATC3
- trinitrobenzenesulfonic acid
- Il22/Il22b
role in cell
- migration
- apoptosis
- expression in
- proliferation
- differentiation
- motility
- maturation
- function
- abnormal morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi lumen
- Plasma Membrane
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MUC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detoxification of copper ion
- homeostasis of number of cells in a free-living population
- mucus secretion
- maintenance of gastrointestinal epithelium
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular matrix
- inner mucus layer
- Golgi lumen
- outer mucus layer
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding