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MUC5B Gene(Protein Coding)

Mucin 5B, Oligomeric Mucus/Gel-Forming

GCID:
GC11P001244
GIFtS:
50
Genes Participants
UDN Logo

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 Metabolism of proteins and CLEC7A (Dectin-1) signaling. An important paralog of this gene is SSPO.

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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MUC5B Gene

Promoters and enhancers for MUC5B Gene
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
GH11I001223 Promoter/Enhancer 1.1 EPDnew dbSUPER 550.8 0.0 -18 0.1 ZNF687 NFIA MLX NFIB MNT KLF4 SP1 NFIC MYC MUC5B PIR46771
GH11I001221 Enhancer 0.4 ENCODE dbSUPER 550.8 -1.9 -1939 0.2 MUC5B PIR46771
GH11I001218 Enhancer 1.1 ENCODE dbSUPER 11.3 -3.2 -3249 1.7 FOXA2 MLX ZFP64 ARID4B ZNF48 SLC30A9 SP5 MXD4 MIER2 REST MUC5B PIR46771
GH11I001274 Enhancer 0.3 dbSUPER 12.3 +54.7 54678 5.6 RXRA GC11M001275 PIR51627 TOLLIP-AS1 TOLLIP ENSG00000255177 MUC5B MOB2 BRSK2 PIR57200 LOC105376512
GH11I001281 Enhancer 0.2 dbSUPER 12.3 +58.7 58662 1.3 TOLLIP TOLLIP-AS1 ENSG00000255177 MUC5B MOB2 GC11M001275 PIR51627 LOC105376512
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUC5B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUC5B gene promoter:

Genomic Locations for MUC5B Gene

Genomic Locations for MUC5B Gene
chr11:1,223,065-1,262,176
(GRCh38/hg38)
Size:
39,112 bases
Orientation:
Plus strand
chr11:1,244,295-1,283,406
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for MUC5B Gene

Proteins for MUC5B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MUC5B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 isoforms=145, Asn201, isoforms=254, isoforms=401, Asn515, isoforms=805, Asn929, isoforms=1276, isoforms=1292, isoforms=1340, Trp1509, isoforms=1556, isoforms=1774, isoforms=1790, isoforms=2320, isoforms=2749, isoforms=2877, isoforms=3449, Trp3577, Asn4006, Trp4134, isoforms=4804, isoforms=4960, isoforms=5017, Asn5024, Asn5046, Asn5096, Asn5111, Asn5215, isoforms=5486, Asn5526, isoforms=5565, Asn5566, Asn5602, isoforms=5612, Asn5663, Asn5677, and isoforms=5721
  • 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

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

Protein Domains for MUC5B Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HC84

UniProtKB/Swiss-Prot:

MUC5B_HUMAN :
  • The cysteine residues in the Cys-rich subdomain repeats are not involved in disulfide bonding.
Domain:
  • 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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Human Phenotype Ontology for MUC5B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MUC5B Gene

MGI Knock Outs for MUC5B:

Animal Model Products

miRNA for MUC5B Gene

miRTarBase miRNAs that target MUC5B

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

Localization for MUC5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC5B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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)
  • Vesicles (3)
See all subcellular structures

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,HDA 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MUC5B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC5B Gene

mRNA expression in normal human tissues for MUC5B Gene
mRNA expression by GTEx for MUC5B GenemRNA expression by BioGPS 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:

MUC5B

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.

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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • epiglottis
  • head
  • larynx
  • mouth
  • neck
  • salivary gland
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • 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
dog
(Canis familiaris)
 Mammalia MUC5B 33
  • 70.49 (n)
mouse
(Mus musculus)
 Mammalia Muc5b 33 16 34
  • 67.89 (n)
rat
(Rattus norvegicus)
 Mammalia Muc5b 33
  • 67.07 (n)
cow
(Bos Taurus)
 Mammalia MUC5B 34
  • 36 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MUC5B 34
  • 30 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MUC5B 34
  • 26 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100859916 33
  • 56.2 (n)
MUC5B 34
  • 31 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MUC5B 34
  • 44 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii MUC5B (2 of 4) 34
  • 26 (a)
 OneToMany
muc5f 34
  • 26 (a)
 OneToMany
MUC5B (3 of 4) 34
  • 22 (a)
 OneToMany
muc5b 34
  • 20 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 16 (a)
 OneToMany
-- 34
  • 14 (a)
 OneToMany
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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MUC5B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs56344012 conflicting-interpretations-of-pathogenicity, not specified 1,255,237(+) A/C/G coding_sequence_variant, synonymous_variant
rs116870693 likely-benign, not specified 1,245,890(+) G/A/T coding_sequence_variant, missense_variant
rs145066684 likely-benign, not specified 1,251,598(+) T/C coding_sequence_variant, synonymous_variant
rs182667095 likely-benign, not specified 1,251,466(+) T/C coding_sequence_variant, synonymous_variant
rs184565965 likely-benign, not specified 1,246,059(+) A/C/G coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information for MUC5B Gene

Human Gene Mutation Database (HGMD)
MUC5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC5B

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MUC5B in MalaCards View complete list of genes associated with diseases

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}.

Additional Disease Information for MUC5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  2. A common MUC5B promoter polymorphism and pulmonary fibrosis. (PMID: 21506741) Seibold MA … Schwartz DA (The New England journal of medicine 2011) 3 4 58
  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 58
  4. 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 44 58
  5. Mucin gene polymorphisms in otitis media patients. (PMID: 19718741) Ubell ML … Kerschner JE (The Laryngoscope 2010) 3 44 58

Products for MUC5B Gene

Sources for MUC5B Gene

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