MUC5B Chromosome 11
Mucin 5B, oligomeric mucus/gel-forming
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What This Gene Does
This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Mucins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000117983
Associated Conditions (7)
Pulmonary fibrosis
idiopathic
susceptibility to
Interstitial lung disease 2
Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B
Antisynthetase syndrome
Colon adenocarcinoma
Key Variants
RS35705950
Benign; risk factor
Pulmonary fibrosis, idiopathic, susceptibility to
Health Risk
RS141222463
Conflicting classifications of pathogenicity
Health Risk
RS190624357
Conflicting classifications of pathogenicity
Health Risk
RS199754770
Conflicting classifications of pathogenicity
Health Risk
RS200110733
Conflicting classifications of pathogenicity
Health Risk
RS200237369
Conflicting classifications of pathogenicity
Health Risk
RS200554635
Conflicting classifications of pathogenicity
Interstitial lung disease 2, Interstitial lung disease 2
Health Risk
RS200568241
Conflicting classifications of pathogenicity
Health Risk
RS200656241
Conflicting classifications of pathogenicity
Health Risk
RS200676815
Conflicting classifications of pathogenicity
Health Risk
RS200719329
Conflicting classifications of pathogenicity
Health Risk
RS200737515
Conflicting classifications of pathogenicity
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35705950 | Health Risk | Benign; risk factor | Pulmonary fibrosis, idiopathic, susceptibility to |
| RS141222463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190624357 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199754770 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200110733 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200237369 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200554635 | Health Risk | Conflicting classifications of pathogenicity | Interstitial lung disease 2, Interstitial lung disease 2 |
| RS200568241 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200656241 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200676815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200719329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200737515 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200770447 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201155330 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201591679 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201746407 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201750183 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201764494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201952503 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202040871 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367855925 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368986524 | Health Risk | Conflicting classifications of pathogenicity | Colon adenocarcinoma, Colon adenocarcinoma |
| RS369158178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369321121 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371465585 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374596015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377303931 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS533470019 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS551505442 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56027625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562392113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61731823 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61742789 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745880752 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757967424 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780570757 | Health Risk | Conflicting classifications of pathogenicity | — |