MUC2 (mucin 2, oligomeric mucus/gel-forming)
- symbol:
- MUC2
- locus group:
- protein-coding gene
- location:
- 11p15.5
- gene_family:
- Mucins
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 4583
- ensembl gene id:
- ENSG00000198788
- ucsc gene id:
- uc057xrp.1
- refseq accession:
- NM_002457
- hgnc_id:
- HGNC:7512
- approved reserved:
- 1989-02-13
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. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
None
基因本体信息
MUC2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
MUC2基因的本体（GO）信息：
| 名称 |
|---|
| 5110 Vibrio cholerae infection [PATH:hsa05110] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 名称 |
|---|
| Metabolism of proteins |
| O-linked glycosylation |
| O-linked glycosylation of mucins |
| Post-translational protein modification |
| Termination of O-glycan biosynthesis |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Adenocarcinoma | 0.126795978 | 17 | 0 | BeFree_CTD_human_LHGDN |
| Adenoma | 0.122171535 | 9 | 0 | BeFree_CTD_human |
| Intestinal Neoplasms | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Rectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Lung Diseases, Interstitial | 0.12 | 1 | 1 | GWASCAT |
| Colonic Neoplasms | 0.085991584 | 6 | 0 | BeFree_LHGDN_RGD |
| Ulcerative Colitis | 0.081628651 | 7 | 3 | BeFree_RGD |
| Colitis | 0.081357209 | 7 | 0 | BeFree_RGD |
| Cystic Fibrosis | 0.080542884 | 2 | 0 | BeFree_RGD |
| Intestinal Diseases | 0.080542884 | 3 | 0 | BeFree_RGD |
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