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Aliases for MUC5B Gene

Aliases for MUC5B Gene

  • Mucin 5B, Oligomeric Mucus/Gel-Forming 2 3 5
  • 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 HGNC Symbols for MUC5B Gene

  • MUC5

Previous GeneCards Identifiers for MUC5B Gene

  • GC11P001736
  • GC11P001535
  • GC11P001210
  • GC11P001211
  • GC11P001200
  • GC11P001145
  • GC11P001037

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 Pneumonia. Among its related pathways are O-linked glycosylation and HIV Life Cycle. An important paralog of this gene is MUC5AC.

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

Additional gene information for MUC5B Gene

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

Genomics for MUC5B Gene

Regulatory Elements for MUC5B Gene

Enhancers for MUC5B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H001218 1.2 ENCODE dbSUPER 11.3 -3.3 -3250 1.7 FOXA2 MLX ZFP64 ARID4B SLC30A9 SP5 MXD4 MIER2 PPARG KAT8 MUC5B PIR46771
GH11H001274 0.2 dbSUPER 12.3 +54.7 54679 5.6 TOLLIP-AS1 TOLLIP ENSG00000255177 MUC5B MOB2 BRSK2 PIR51627 GC11M001275 LOC105376512
GH11H001281 0.2 dbSUPER 12.3 +58.7 58662 1.3 TOLLIP-AS1 TOLLIP ENSG00000255177 MUC5B MOB2 PIR51627 GC11M001275 LOC105376512
GH11H001221 0.7 dbSUPER 0.7 +0.8 762 3.9 CTCF ZNF687 ATF1 MLX NFIA NFIB MNT KLF4 NR3C1 RAD21 ENSG00000255177 TOLLIP-AS1 BRSK2 TOLLIP MUC5B GC11M001229 GC11M001228
GH11H001222 0.5 ENCODE dbSUPER 0.7 -1.9 -1940 0.2 MUC5B PIR46771
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MUC5B on UCSC Golden Path with GeneCards custom track

Genomic Locations for MUC5B Gene

Genomic Locations for MUC5B Gene
39,112 bases
Plus strand

Genomic View for MUC5B Gene

Genes around MUC5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC5B Gene

Proteins for MUC5B Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O00447
    • O00573
    • O14985
    • O15494
    • O95291
    • O95451
    • Q14881
    • Q7M4S5
    • Q99552
    • Q9UE28

    Protein attributes for MUC5B Gene

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

neXtProt entry for MUC5B Gene

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.
  • Glycosylation at posLast=145145, posLast=201201, Asn254, Asn401, Asn515, posLast=805805, posLast=929929, posLast=12761276, Asn1292, posLast=13401340, posLast=15091509, Asn1556, posLast=17741774, posLast=17901790, Trp2320, posLast=27492749, Trp2877, Asn3449, Trp3577, Asn4006, Trp4134, posLast=48044804, Asn4960, posLast=50175017, Asn5024, posLast=50465046, posLast=50965096, posLast=51115111, Asn5215, Asn5486, posLast=55265526, posLast=55655565, posLast=55665566, posLast=56025602, posLast=56125612, Asn5663, Asn5677, and Asn5721
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC5B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUC5B Gene

Domains & Families for MUC5B Gene

Gene Families for MUC5B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MUC5B Gene

Graphical View of Domain Structure for InterPro Entry



  • The cysteine residues in the Cys-rich subdomain repeats are not involved in disulfide bonding.
  • The cysteine residues in the Cys-rich subdomain repeats are not involved in disulfide bonding.
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.

Phenotypes From GWAS Catalog for MUC5B Gene

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

Animal Models for MUC5B Gene

MGI Knock Outs for MUC5B:

miRNA for MUC5B Gene

miRTarBase miRNAs that target MUC5B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MUC5B Gene

Localization for MUC5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC5B Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC5B gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MUC5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MUC5B: view

Pathways & Interactions for MUC5B Gene

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

Gene Ontology (GO) - Biological Process for MUC5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with MUC5B: view

No data available for SIGNOR curated interactions for MUC5B Gene

Drugs & Compounds for MUC5B Gene

No Compound Related Data Available

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
ECgene alternative splicing isoforms for

Expression for MUC5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x30.6) and Cervix - Endocervix (x13.8).

Protein differential expression in normal tissues from HIPED for MUC5B Gene

This gene is overexpressed in Saliva (53.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MUC5B Gene

Protein tissue co-expression partners for MUC5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUC5B Gene:


SOURCE GeneReport for Unigene cluster for MUC5B Gene:


mRNA Expression by UniProt/SwissProt for MUC5B Gene:

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.

Evidence on tissue expression from TISSUES for MUC5B Gene

  • Lung(4.8)
  • Gall bladder(4.7)
  • Intestine(4.5)
  • Saliva(4.5)
  • Stomach(3.8)
  • Pancreas(2.9)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC5B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • epiglottis
  • head
  • larynx
  • mouth
  • neck
  • salivary gland
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
  • kidney
  • liver
  • spleen
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns 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
(Canis familiaris)
Mammalia MUC5B 33
  • 70.49 (n)
(Mus musculus)
Mammalia Muc5b 33 16 34
  • 67.89 (n)
(Rattus norvegicus)
Mammalia Muc5b 33
  • 67.07 (n)
(Bos Taurus)
Mammalia MUC5B 34
  • 36 (a)
(Ornithorhynchus anatinus)
Mammalia MUC5B 34
  • 30 (a)
(Monodelphis domestica)
Mammalia MUC5B 34
  • 26 (a)
(Gallus gallus)
Aves LOC100859916 33
  • 56.2 (n)
MUC5B 34
  • 31 (a)
(Anolis carolinensis)
Reptilia MUC5B 34
  • 44 (a)
(Danio rerio)
Actinopterygii MUC5B (2 of 4) 34
  • 26 (a)
muc5f 34
  • 26 (a)
MUC5B (3 of 4) 34
  • 22 (a)
muc5b 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
-- 34
  • 14 (a)
Species where no ortholog for MUC5B was found in the sources mined by GeneCards:
  • 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

Gene Tree for MUC5B (if available)
Gene Tree for MUC5B (if available)

Paralogs for MUC5B Gene

Paralogs for MUC5B Gene

(4) SIMAP similar genes for MUC5B Gene using alignment to 6 proteins:

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

Variants for MUC5B Gene

Sequence variations from dbSNP and Humsavar for MUC5B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs190624357 Likely benign 1,234,256(+) GGGCA(A/C)CCCTG reference, missense
rs200503009 Likely benign 1,254,112(+) GGGGC(A/G)GCTCC reference, missense
rs200719329 Likely benign 1,260,703(+) TCTGC(A/G)AGGGC reference, missense
rs201746407 Likely benign 1,257,533(+) AGCCC(A/G)GGGAG reference, missense
rs369614780 Likely benign 1,234,313(+) GAGTT(A/C)CATGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv951277 CNV deletion 24416366
nsv8763 CNV gain 18304495
nsv552927 CNV loss 21841781
nsv552921 CNV loss 21841781
nsv524071 CNV loss 19592680
nsv479228 CNV novel sequence insertion 20440878
nsv469923 CNV loss 18288195
nsv467637 CNV loss 19166990
esv3625107 CNV gain 21293372
esv3625106 CNV gain 21293372
esv3625105 CNV gain 21293372
esv3547191 CNV deletion 23714750
esv3341804 CNV duplication 20981092
esv2759794 CNV loss 17122850
esv2743906 CNV deletion 23290073
esv2743878 CNV deletion 23290073
esv26924 CNV loss 19812545
esv2669189 CNV deletion 23128226
esv1522213 CNV deletion 17803354

Variation tolerance for MUC5B Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.99; 98.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUC5B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC5B Gene

Disorders for MUC5B Gene

MalaCards: The human disease database

(34) MalaCards diseases for MUC5B Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
  • acute pneumonia
idiopathic interstitial pneumonia
  • diffuse idiopathic pulmonary fibrosis
panbronchiolitis, diffuse
  • diffuse panbronchiolitis
encapsulated thymoma
- elite association - COSMIC cancer census association via MalaCards
Search MUC5B in MalaCards View complete list of genes associated with diseases


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MUC5B: view

No data available for Genatlas for MUC5B Gene

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 JL … Laine A (The Journal of biological chemistry 1998) 2 3 4 60
  2. A common MUC5B promoter polymorphism and pulmonary fibrosis. (PMID: 21506741) Seibold MA … Schwartz DA (The New England journal of medicine 2011) 3 4 60
  3. A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. (PMID: 21506748) Zhang Y … Kaminski N (The New England journal of medicine 2011) 3 4 60
  4. Mucin gene polymorphisms in otitis media patients. (PMID: 19718741) Ubell ML … Kerschner JE (The Laryngoscope 2010) 3 45 60
  5. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PMID: 20503287) Schuurhof A … Janssen R (Pediatric pulmonology 2010) 3 45 60

Products for MUC5B Gene

Sources for MUC5B Gene

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