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Aliases for MUC5B Gene

Aliases for MUC5B Gene

  • Mucin 5B, Oligomeric Mucus/Gel-Forming 2 3
  • High Molecular Weight Salivary Mucin MG1 3 4
  • Mucin 5, Subtype B, Tracheobronchial 2 3
  • Sublingual Gland Mucin 3 4
  • MUC-5B 3 4
  • MUC5 3 4
  • Mucin-5 Subtype B, Tracheobronchial 4
  • Cervical Mucin MUC5B 3
  • Cervical Mucin 4
  • Mucin-5B 3
  • MUC9 3
  • MG1 3

External Ids for MUC5B Gene

Previous Symbols for MUC5B Gene

  • MUC5

Summaries for MUC5B Gene

Entrez Gene Summary for MUC5B Gene

  • 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]

GeneCards Summary for MUC5B Gene

MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) is a Protein Coding gene. Diseases associated with MUC5B include pulmonary fibrosis, idiopathic and pulmonary fibrosis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include extracellular matrix structural constituent.

UniProtKB/Swiss-Prot for MUC5B Gene

  • Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus

Gene Wiki entry for MUC5B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC5B Gene

Genomics for MUC5B Gene

Genomic Location for MUC5B Gene

Start:
1,223,065 bp from pter
End:
1,262,176 bp from pter
Size:
39,112 bases
Orientation:
Plus strand

Genomic View for MUC5B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MUC5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC5B Gene

Regulatory Elements for MUC5B Gene

Proteins for MUC5B Gene

  • Protein details for MUC5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC84-MUC5B_HUMAN
    Recommended name:
    Mucin-5B
    Protein Accession:
    Q9HC84
    Secondary Accessions:
    • O00447
    • O00573
    • O14985
    • O15494
    • O95291
    • O95451
    • Q14881
    • Q7M4S5
    • Q99552
    • Q9UE28

    Protein attributes for MUC5B Gene

    Size:
    5762 amino acids
    Molecular mass:
    596340 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA06167.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MUC5B Gene

Proteomics data for MUC5B Gene at MOPED

Post-translational modifications for MUC5B Gene

  • Highly glycosylated. C-, N- and O-glycosylated. C-mannosylated in the Cys-rich subdomains probably on the first Trp residue of the WXXW motif. Highly O-glycosylated in the Ser/Thr-rich tandem repeat (TR) region. The repeat region is about 59% O-glycosylated with a high abundance of NeuAc(2)Hex(1)HexNac1-ol.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn145, Asn201, Asn254, Asn401, Asn515, Asn805, Asn929, Asn1276, Asn1292, Trp1340, Trp1509, Asn1556, Asn1774, Trp1790, Trp2320, Asn2749, Trp2877, Asn3449, Trp3577, Asn4006, Trp4134, Asn4804, Asn4960, Asn5017, Asn5024, Asn5046, Asn5096, Asn5111, Asn5215, Asn5486, Asn5526, Asn5565, Asn5566, Asn5602, Asn5612, Asn5663, Asn5677, and Asn5721

Other Protein References for MUC5B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC5B Gene

Domains for MUC5B Gene

Gene Families for MUC5B Gene

HGNC:

UniProtKB/Swiss-Prot:

MUC5B_HUMAN
Domain:
  • The cysteine residues in the Cys-rich subdomain repeats are not involved in disulfide bonding:
    • Q9HC84
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.:
    • Q9HC84
  • Contains 3 TIL (trypsin inhibitory-like) domains.:
    • Q9HC84
  • Contains 3 VWFC domains.:
    • Q9HC84
  • Contains 4 VWFD domains.:
    • Q9HC84
Similarity:
  • Contains 3 HAT repeats.:
    • Q9HC84
genes like me logo Genes that share domains with MUC5B: view

Function for MUC5B Gene

Molecular function for MUC5B Gene

GENATLAS Biochemistry: mucin 5B,belonging to the secreted mucins cluster,expressed in tracheobronchial tissues,submaxillary glands,gall bladder and endocervix
UniProtKB/Swiss-Prot Function: Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus
UniProtKB/Swiss-Prot Induction: Regulated by all-trans-retinoic acid (ATRA) in a cell-type specific manner.

Gene Ontology (GO) - Molecular Function for MUC5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1718282
genes like me logo Genes that share ontologies with MUC5B: view

miRNA for MUC5B Gene

miRTarBase miRNAs that target MUC5B

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MUC5B Gene

Localization for MUC5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC5B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUC5B Gene COMPARTMENTS Subcellular localization image for MUC5B gene
Compartment Confidence
extracellular 5
golgi apparatus 4
cytoskeleton 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MUC5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005796 Golgi lumen TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with MUC5B: view

Pathways for MUC5B Gene

genes like me logo Genes that share pathways with MUC5B: view

Pathways by source for MUC5B Gene

Interacting Proteins for MUC5B Gene

Gene Ontology (GO) - Biological Process for MUC5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0016266 O-glycan processing TAS --
GO:0042742 defense response to bacterium IEA --
GO:0043030 regulation of macrophage activation IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with MUC5B: view

Transcripts for MUC5B Gene

mRNA/cDNA for MUC5B Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUC5B Gene

Mucin 5B, oligomeric mucus/gel-forming:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUC5B Gene

No ASD Table

Relevant External Links for MUC5B Gene

GeneLoc Exon Structure for
MUC5B
ECgene alternative splicing isoforms for
MUC5B

Expression for MUC5B Gene

mRNA expression in normal human tissues for MUC5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC5B Gene

This gene is overexpressed in Minor Salivary Gland (30.6) and Cervix - Endocervix (13.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MUC5B Gene

SOURCE GeneReport for Unigene cluster for MUC5B Gene Hs.523395

mRNA Expression by UniProt/SwissProt for MUC5B Gene

Q9HC84-MUC5B_HUMAN
Tissue specificity: Expressed on surface airway epithelia. Expressed mainly in mucous cells of submucosal glands of airway tissues. Highly expressed in the sublingual gland. Also found in submaxillary glands, endocervix, gall bladder, and pancreas.
genes like me logo Genes that share expressions with MUC5B: view

Orthologs for MUC5B Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC5B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MUC5B 37
  • 36 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC5B 36
  • 70.49 (n)
  • 63.33 (a)
mouse
(Mus musculus)
Mammalia Muc5b 36
  • 67.89 (n)
  • 61.56 (a)
Muc5b 16
Muc5b 37
  • 41 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC5B 37
  • 26 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC5B 37
  • 30 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Muc5b 36
  • 67.07 (n)
  • 61.09 (a)
chicken
(Gallus gallus)
Aves LOC100859916 36
  • 56.2 (n)
  • 51.49 (a)
MUC5B 37
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC5B 37
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii muc5b 37
  • 20 (a)
OneToMany
MUC5B (2 of 4) 37
  • 26 (a)
OneToMany
MUC5B (3 of 4) 37
  • 22 (a)
OneToMany
muc5f 37
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 16 (a)
OneToMany
-- 37
  • 14 (a)
OneToMany
Species with no ortholog for MUC5B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUC5B Gene

ENSEMBL:
Gene Tree for MUC5B (if available)
TreeFam:
Gene Tree for MUC5B (if available)

Paralogs for MUC5B Gene

Selected SIMAP similar genes for MUC5B Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for MUC5B Gene

genes like me logo Genes that share paralogs with MUC5B: view

No data available for Paralogs for MUC5B Gene

Variants for MUC5B Gene

Sequence variations from dbSNP and Humsavar for MUC5B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs760415 -- 1,231,843(+) CCCCC(C/G)CCCAG intron-variant
rs760416 -- 1,232,115(+) CCAAT(G/T)CCAGG reference, missense
rs760417 -- 1,232,727(+) TGTGC(C/G)CCCAA frameshift-variant, reference
rs762818 -- 1,261,182(+) CAGAA(A/G/T)ACAGA intron-variant
rs868902 -- 1,221,278(+) CCATG(A/C)AACAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MUC5B Gene

Variant ID Type Subtype PubMed ID
nsv469923 CNV Loss 18288195
esv2743878 CNV Deletion 23290073
esv2669189 CNV Deletion 23128226
essv22587 CNV CNV 17122850
nsv896644 CNV Loss 21882294
dgv962n71 CNV Loss 21882294
dgv963n71 CNV Loss 21882294
dgv964n71 CNV Loss 21882294
dgv965n71 CNV Loss 21882294
dgv966n71 CNV Loss 21882294
dgv967n71 CNV Loss 21882294
dgv968n71 CNV Loss 21882294
nsv8763 CNV Gain 18304495
nsv524071 CNV Loss 19592680
dgv969n71 CNV Loss 21882294
dgv970n71 CNV Loss 21882294
esv26924 CNV Loss 19812545
nsv467637 CNV Loss 19166990
esv1522213 CNV Deletion 17803354
dgv971n71 CNV Loss 21882294
esv2743906 CNV Deletion 23290073

Relevant External Links for MUC5B Gene

HapMap Linkage Disequilibrium report
MUC5B
Human Gene Mutation Database (HGMD)
MUC5B

Disorders for MUC5B Gene

(1) OMIM Diseases for MUC5B Gene (600770)

UniProtKB/Swiss-Prot

MUC5B_HUMAN
  • Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. {ECO:0000269 PubMed:21506741, ECO:0000269 PubMed:21506748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis, suggesting that dysregulated MUC5B expression in the lung may be involved in the pathogenesis of pulmonary fibrosis (PubMed:21506741). {ECO:0000269 PubMed:21506741}.

Relevant External Links for MUC5B

Genetic Association Database (GAD)
MUC5B
Human Genome Epidemiology (HuGE) Navigator
MUC5B
genes like me logo Genes that share disorders with MUC5B: view

Publications for MUC5B Gene

  1. Genomic organization of the human mucin gene MUC5B: cDNA and genomic sequences upstream of the large central exon. (PMID: 9804771) Desseyn J.-L. … Laine A. (J. Biol. Chem. 1998) 2 3 4
  2. Human mucin gene MUC5B, the 10.7 kb large central exon encodes various alternate subdomains resulting in a super-repeat. Structural evidence for a 11p15.5 gene family. (PMID: 9013550) Desseyn J.-L. … Laine A. (J. Biol. Chem. 1997) 3 4
  3. Polymorphism of human mucin genes in chest disease: possible significance of MUC2. (PMID: 11062147) Vinall L.E. … Swallow D.M. (Am. J. Respir. Cell Mol. Biol. 2000) 3 49
  4. Characterization of human mucin 5B gene expression in airway epithelium and the genomic clone of the amino-terminal and 5'-flanking region. (PMID: 11713095) Chen Y. … Wu R. (Am. J. Respir. Cell Mol. Biol. 2001) 3 4
  5. Molecular cloning of a novel high molecular weight mucin (MG1) from human sublingual gland. (PMID: 8554565) Troxler R.F. … Oppenheim F.G. (Biochem. Biophys. Res. Commun. 1995) 3 4

Products for MUC5B Gene

Sources for MUC5B Gene

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