MUC2
Mucin 2, oligomeric mucus/gel-forming | |||||||||||||
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Identifiers | |||||||||||||
Symbols | MUC2; MLP; MUC-2; SMUC | ||||||||||||
External IDs | OMIM: 158370 MGI: 1339364 HomoloGene: 130504 GeneCards: MUC2 Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 4583 | 17831 | |||||||||||
Ensembl | ENSG00000198788 | ENSMUSG00000078533 | |||||||||||
UniProt | Q02817 | Q80Z19 | |||||||||||
RefSeq (mRNA) | NM_002457 | NM_023566.2 | |||||||||||
RefSeq (protein) | NP_002448 | XP_003688887.1 | |||||||||||
Location (UCSC) | Chr 11: 1.07 – 1.1 Mb | Chr 7: 148.93 – 148.94 Mb | |||||||||||
PubMed search | |||||||||||||
Mucin 2, oligomeric mucus/gel-forming, also known as MUC2, is a protein that in humans is encoded by the MUC2 gene.[1][2]
Function
This gene encodes a member of the mucin protein family. The protein encoded by this gene, also called mucin 2, is secreted onto mucosal surfaces.[1]
Mucin 2 is particularly prominent in the gut where it is secreted from goblet cells in the epithelial lining into the lumen of the large intestine. There, mucin 2, along with small amounts of related-mucin proteins, polymerizes into a gel of which 80% by weight is oligosaccharide side-chains that are added as post-translational modifications to the mucin proteins. This gel provides an insoluble mucous barrier that serves to protect the intestinal epithelium.
Genetics
The mucin 2 protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known.[3]
References
- ↑ 1.0 1.1 Allen A, Hutton DA, Pearson JP (July 1998). "The MUC2 gene product: a human intestinal mucin". Int. J. Biochem. Cell Biol. 30 (7): 797–801. doi:10.1016/S1357-2725(98)00028-4. PMID 9722984.
- ↑ Rousseau K, Byrne C, Kim YS, Gum JR, Swallow DM, Toribara NW (May 2004). "The complete genomic organization of the human MUC6 and MUC2 mucin genes". Genomics 83 (5): 936–9. doi:10.1016/j.ygeno.2003.11.003. PMID 15081123.
- ↑ "Entrez Gene: MUC2 mucin 2, oligomeric mucus/gel-forming".
Further reading
- Allen A, Hutton DA, Pearson JP (1998). "The MUC2 gene product: a human intestinal mucin.". Int. J. Biochem. Cell Biol. 30 (7): 797–801. doi:10.1016/S1357-2725(98)00028-4. PMID 9722984.
- Byrd JC, Bresalier RS (2004). "Mucins and mucin binding proteins in colorectal cancer.". Cancer Metastasis Rev. 23 (1-2): 77–99. doi:10.1023/A:1025815113599. PMID 15000151.
- Gum JR, Hicks JW, Toribara NW, et al. (1992). "The human MUC2 intestinal mucin has cysteine-rich subdomains located both upstream and downstream of its central repetitive region.". J. Biol. Chem. 267 (30): 21375–83. PMID 1400449.
- Xu G, Huan L, Khatri I, et al. (1992). "Human intestinal mucin-like protein (MLP) is homologous with rat MLP in the C-terminal region, and is encoded by a gene on chromosome 11 p 15.5.". Biochem. Biophys. Res. Commun. 183 (2): 821–8. doi:10.1016/0006-291X(92)90557-2. PMID 1550588.
- Toribara NW, Gum JR, Culhane PJ, et al. (1991). "MUC-2 human small intestinal mucin gene structure. Repeated arrays and polymorphism.". J. Clin. Invest. 88 (3): 1005–13. doi:10.1172/JCI115360. PMC 295506. PMID 1885763.
- Griffiths B, Matthews DJ, West L, et al. (1991). "Assignment of the polymorphic intestinal mucin gene (MUC2) to chromosome 11p15.". Ann. Hum. Genet. 54 (Pt 4): 277–85. doi:10.1111/j.1469-1809.1990.tb00383.x. PMID 1980995.
- Jany BH, Gallup MW, Yan PS, et al. (1991). "Human bronchus and intestine express the same mucin gene.". J. Clin. Invest. 87 (1): 77–82. doi:10.1172/JCI115004. PMC 294994. PMID 1985113.
- Gerard C, Eddy RL, Shows TB (1991). "The core polypeptide of cystic fibrosis tracheal mucin contains a tandem repeat structure. Evidence for a common mucin in airway and gastrointestinal tissue.". J. Clin. Invest. 86 (6): 1921–7. doi:10.1172/JCI114925. PMC 329827. PMID 2254452.
- Nguyen VC, Aubert JP, Gross MS, et al. (1991). "Assignment of human tracheobronchial mucin gene(s) to 11p15 and a tracheobronchial mucin-related sequence to chromosome 13.". Hum. Genet. 86 (2): 167–72. PMID 2265829.
- Gum JR, Byrd JC, Hicks JW, et al. (1989). "Molecular cloning of human intestinal mucin cDNAs. Sequence analysis and evidence for genetic polymorphism.". J. Biol. Chem. 264 (11): 6480–7. PMID 2703501.
- Shankar V, Gilmore MS, Sachdev GP (1995). "Further evidence that the human MUC2 gene transcripts in the intestine and trachea are identical.". Biochem. J. 306 (1): 311–2. PMC 1136518. PMID 7864825.
- Tytgat KM, Büller HA, Opdam FJ, et al. (1994). "Biosynthesis of human colonic mucin: Muc2 is the prominent secretory mucin.". Gastroenterology 107 (5): 1352–63. PMID 7926500.
- Gum JR, Hicks JW, Toribara NW, et al. (1994). "Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor.". J. Biol. Chem. 269 (4): 2440–6. PMID 8300571.
- Pigny P, Guyonnet-Duperat V, Hill AS, et al. (1997). "Human mucin genes assigned to 11p15.5: identification and organization of a cluster of genes.". Genomics 38 (3): 340–52. doi:10.1006/geno.1996.0637. PMID 8975711.
- Velcich A, Palumbo L, Selleri L, et al. (1997). "Organization and regulatory aspects of the human intestinal mucin gene (MUC2) locus.". J. Biol. Chem. 272 (12): 7968–76. doi:10.1074/jbc.272.12.7968. PMID 9065467.
- Gum JR, Hicks JW, Kim YS (1997). "Identification and characterization of the MUC2 (human intestinal mucin) gene 5'-flanking region: promoter activity in cultured cells.". Biochem. J. 325 (1): 259–67. PMC 1218553. PMID 9224654.
- Eckhardt AE, Timpte CS, DeLuca AW, Hill RL (1998). "The complete cDNA sequence and structural polymorphism of the polypeptide chain of porcine submaxillary mucin.". J. Biol. Chem. 272 (52): 33204–10. doi:10.1074/jbc.272.52.33204. PMID 9407109.
- Asker N, Axelsson MA, Olofsson SO, Hansson GC (1998). "Dimerization of the human MUC2 mucin in the endoplasmic reticulum is followed by a N-glycosylation-dependent transfer of the mono- and dimers to the Golgi apparatus.". J. Biol. Chem. 273 (30): 18857–63. doi:10.1074/jbc.273.30.18857. PMID 9668061.
- Retz M, Lehmann J, Röder C, et al. (1999). "Differential mucin MUC7 gene expression in invasive bladder carcinoma in contrast to uniform MUC1 and MUC2 gene expression in both normal urothelium and bladder carcinoma.". Cancer Res. 58 (24): 5662–6. PMID 9865718.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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