Search Result
| Gene id | 4583 | ||||||||||||||||
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| Gene Summary SNPs KEGG pathways Diseases PubMed references | |||||||||||||||||
Gene Summary |
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| Gene Symbol | MUC2 Gene UCSC Ensembl | ||||||||||||||||
| Aliases | MLP, MUC-2, SMUC | ||||||||||||||||
| Gene name | mucin 2, oligomeric mucus/gel-forming | ||||||||||||||||
| Alternate names | mucin-2, mucin 2, intestinal/tracheal, | ||||||||||||||||
| Gene location |
11p15.5 (1074874: 1110507) Exons: 51 NC_000011.10 |
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| Gene summary(Entrez) |
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] |
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| OMIM | 158370 | ||||||||||||||||
SNPs |
rs2856111 Strand: + Allele origin: unknown Allele change: C/T Mutation type: snp NC_000011.9 g.1075747T>C NC_000011.10 g.1075747C>T NG_051929.1 g.5873T= NG_051929.1 g.5873T>C NM_002457.4 c.173T= NM_002457.4 c.173T>C NT_187681.1 g.150140T= NT_187681.1 g.150140T>C NP_002448.4 p.Leu58= NP_002448.4 p.Leu58Pro rs7103978 Strand: - Allele origin: unknown Allele change: A/C/T Mutation type: snp NC_000011.10 g.1090879A>G NC_000011.10 g.1090879A>T NC_000011.9 g.1088815A>G NG_051929.1 g.19518A>G NG_051929.1 g.19518A>T NM_002457.4 c.3600A>G NM_002457.4 c.3600A>T NP_002448.4 p.Ala1200= NT_187681.1 g.163208A>G NT_187681.1 g.163208A>T rs10794288 Strand: + Allele origin: unknown Allele change: C/T Mutation type: snp NC_000011.10 g.1086825C>T NC_000011.9 g.1084821T>C NG_051929.1 g.15524T= NG_051929.1 g.15524T>C NM_002457.4 c.2616T= NM_002457.4 c.2616T>C NT_187681.1 g.159214T= NT_187681.1 g.159214T>C NP_002448.4 p.Asp872= rs10902088 Strand: + Allele origin: unknown Allele change: C/T Mutation type: snp NC_000011.9 g.1087972C>T NC_000011.10 g.1090036T>C NG_051929.1 g.18675C= NG_051929.1 g.18675C>T NM_002457.4 c.3447C= NM_002457.4 c.3447C>T NT_187681.1 g.162365C= NT_187681.1 g.162365C>T NP_002448.4 p.Asn1149= rs11245936 Strand: + Allele origin: unknown Allele change: A/G Mutation type: snp NC_000011.10 g.1086366G>A NC_000011.9 g.1084362G>A NG_051929.1 g.15065G>A NM_002457.4 c.2494G>A NT_187681.1 g.158755G>A NP_002448.4 p.Gly832Ser rs11245954 Strand: + Allele origin: unknown Allele change: A/G Mutation type: snp NC_000011.10 g.1107170A>G NC_000011.9 g.1101078A>G NG_051929.1 g.39193A>G NM_002457.4 c.14893A>G NT_187681.1 g.175471A>G NP_002448.4 p.Ser4965Gly |
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KEGG pathways
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hsa05146 Amoebiasis hsa05110 Vibrio cholerae infection | |||||||||||||||||
Diseases
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PubMed references |
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