Free for academic non-profit institutions. Other users need a Commercial license
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]
MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) is a Protein Coding gene. Diseases associated with MUC5B include Pulmonary Fibrosis, Idiopathic and Panbronchiolitis, Diffuse. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and Metabolism of proteins. An important paralog of this gene is MUC5AC.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J001223 | Promoter/Enhancer | 0.9 | EPDnew dbSUPER | 600.7 | 0.0 | -19 | 0.1 | HNRNPL MNT ZFX SP1 KLF4 NFIC MBD2 GABPB1 NFIB ZNF687 | HSALNG0082083 MUC5B MUC5AC | |
GH11J001224 | Promoter/Enhancer | 0.8 | Ensembl CraniofacialAtlas dbSUPER | 600.7 | +1.5 | 1519 | 0.8 | ESR1 | HSALNG0082083 MUC5B TOLLIP-AS1 MN309316-001 TOLLIP | |
GH11J001221 | Enhancer | 0.5 | Ensembl ENCODE dbSUPER | 600.7 | -1.9 | -1865 | 0.4 | HSALNG0082083 MUC5B ENSG00000286275 MUC5AC | ||
GH11J001218 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 11.2 | -3.3 | -3338 | 1.9 | HNRNPL GATAD2A SOX13 NFKBIZ RCOR2 ZHX2 RXRB IRF2 REST GABPA | ENSG00000286275 MUC5B HSALNG0082083 MUC5AC | |
GH11J001274 | Enhancer | 0.3 | dbSUPER | 12.3 | +54.7 | 54677 | 5.6 | RXRA POLR2A | piR-57628 TOLLIP-AS1 TOLLIP MUC5B-AS1 MUC5B MOB2 BRSK2 piR-34155 LOC105376512 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 1718282 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) |
.62
|
|
2 | IL-17 Family Signaling Pathways |
Mucin expression in CF via IL-6, IL-17 signaling pathways
.48
|
|
3 | Diseases of glycosylation | ||
4 | Innate Immune System |
.61
|
|
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0016266 | O-glycan processing | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | MUC5B 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Muc5b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Muc5b 30 |
|
||
Cow (Bos Taurus) |
Mammalia | MUC5B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MUC5B 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MUC5B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC100859916 30 |
|
||
MUC5B 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | MUC5B 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | muc5f 31 |
|
OneToMany | |
MUC5B (2 of 4) 31 |
|
OneToMany | |||
MUC5B (3 of 4) 31 |
|
OneToMany | |||
muc5b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666716 | Likely Benign: not specified | 1,239,466(+) | T/C | SYNONYMOUS_VARIANT | |
666717 | Benign/Likely Benign: not specified; not provided | 1,255,202(+) | G/T | MISSENSE_VARIANT | |
709881 | Benign: not provided | 1,233,218(+) | C/T | SYNONYMOUS_VARIANT | |
711540 | Benign: not provided | 1,240,081(+) | C/T | SYNONYMOUS_VARIANT | |
716965 | Benign: not provided | 1,255,510(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1522213 | CNV | deletion | 17803354 |
esv2669189 | CNV | deletion | 23128226 |
esv26924 | CNV | loss | 19812545 |
esv2743878 | CNV | deletion | 23290073 |
esv2743906 | CNV | deletion | 23290073 |
esv2759794 | CNV | loss | 17122850 |
esv3341804 | CNV | duplication | 20981092 |
esv3547191 | CNV | deletion | 23714750 |
esv3625105 | CNV | gain | 21293372 |
esv3625106 | CNV | gain | 21293372 |
esv3625107 | CNV | gain | 21293372 |
nsv467637 | CNV | loss | 19166990 |
nsv469923 | CNV | loss | 18288195 |
nsv479228 | CNV | novel sequence insertion | 20440878 |
nsv524071 | CNV | loss | 19592680 |
nsv552921 | CNV | loss | 21841781 |
nsv552927 | CNV | loss | 21841781 |
nsv8763 | CNV | gain | 18304495 |
nsv951277 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pulmonary fibrosis, idiopathic |
|
|
panbronchiolitis, diffuse |
|
|
pulmonary fibrosis |
|
|
idiopathic interstitial pneumonia |
|
|
pneumonia |
|
|