Mucin 5, Subtype B, Tracheobronchial

Alternative Names

  • MUC5B
  • MUC5

Associated Diseases

Interstitial Lung Disease 2
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OMIM Number

600770

NCBI Gene ID

727897

Uniprot ID

Q9HC84

Length

39,107 bases

No. of Exons

49

No. of isoforms

1

Protein Name

Mucin-5B

Molecular Mass

596340 Da

Amino Acid Count

5762

Genomic Location

chr11:1,223,065-1,262,171

Gene Map Locus
11p15.5

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002458.2:c.10352C>TUnited Arab EmiratesNC_000011.10:g.1247232C>TLikely PathogenicInterstitial Lung Disease 2NG_031880.1:g.29168C>T; NM_002458.2:c.10352C>T; NP_002449.2:p.Thr3451Met201116040
NM_002458.2:c.14683C>TUnited Arab EmiratesNC_000011.10:g.1251563C>TLikely PathogenicInterstitial Lung Disease 2NG_031880.1:g.33499C>T; NM_002458.2:c.14683C>T; NP_002449.2:p.Pro4895Ser56159668
NM_002458.2:c.14936T>CUnited Arab EmiratesNC_000011.10:g.1252415T>CLikely Pathogenic, Uncertain SignificanceInterstitial Lung Disease 2NG_031880.1:g.34351T>C; NM_002458.2:c.14936T>C; NP_002449.2:p.Ile4979Thr201287218
NM_002458.2:c.16738G>AUnited Arab EmiratesNC_000011.10:g.1259780G>ALikely Pathogenic, Uncertain SignificanceInterstitial Lung Disease 2NG_031880.1:g.41716G>A; NM_002458.2:c.16738G>A; NP_002449.2:p.Gly5580Arg776709402
NM_002458.2:c.16861G>TUnited Arab EmiratesNC_000011.10:g.1260023G>TLikely PathogenicInterstitial Lung Disease 2NG_031880.1:g.41959G>T; NM_002458.2:c.16861G>T; NP_002449.2:p.Glu5621Ter
NM_002458.2:c.6599G>AUnited Arab EmiratesNC_000011.10:g.1243479G>ALikely PathogenicInterstitial Lung Disease 2NG_031880.1:g.25415G>A; NM_002458.2:c.6599G>A; NP_002449.2:p.Arg2200Gln372137722
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