Details for: MUC7

Gene ID: 4589

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MUC7

Ensembl ID: ENSG00000171195

Description: mucin 7, secreted

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • duct epithelial cell CL0000068
    CSI 10.88
    rCSI 15.92%
    PRS 99.91
  • myoepithelial cell CL0000185
    CSI 7.2
    rCSI 18.22%
    PRS 99.92
  • ionocyte CL0005006
    CSI 6.95
    rCSI 7.45%
    PRS 99.68
  • melanocyte of skin CL1000458
    CSI 2.28
    rCSI 3.1%
    PRS 94.42
  • acinar cell of salivary gland CL0002623
    CSI 0.89
    rCSI 20.72%
    PRS 99.79

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MUC7](/details-gene/4589) (mucin 7, secreted) is a protein-coding gene located on chromosome 4q13.3. It encodes a low-molecular-weight, secreted mucin that is a key component of saliva and other mucosal secretions. Functionally, [MUC7](/details-gene/4589) is integral to the innate immune system, where it participates in the '[antimicrobial humoral immune response mediated by antimicrobial peptide](/details-go/GO:0061844)' by binding and aggregating microorganisms. Expression data indicates its high specificity for secretory epithelial tissues, with its most significant expression observed in [duct epithelial cells](/details-cell/CL0000068), [myoepithelial cells](/details-cell/CL0000185), and [acinar cells of the salivary gland](/details-cell/CL0002623). Its function is heavily dependent on extensive post-translational O-linked glycosylation. Clinical associations for this gene can be found under OMIM entry [158375](https://omim.org/entry/158375). ## Cellular Roles and Expression Landscape The expression profile of [MUC7](/details-gene/4589) underscores its specialized role in forming protective mucosal barriers. **Overall**, the gene shows the highest significance in cell types associated with exocrine glands and secretory surfaces. It is a preeminent marker for [duct epithelial cells](/details-cell/CL0000068) (CSI: 10.88), which line the conduits of glands, and is also highly significant in [myoepithelial cells](/details-cell/CL0000185) (CSI: 7.20), which are contractile cells that facilitate the expulsion of glandular secretions. Its high relevance in [acinar cells of the salivary gland](/details-cell/CL0002623) is consistent with its original identification as a primary salivary mucin ([Link](https://doi.org/10.1016/s0021-9258(20)80762-5)). The gene's significant expression in [ionocytes](/details-cell/CL0005006) (CSI: 6.95), cells involved in ion transport across epithelial layers, further suggests its role in maintaining the biochemical environment of mucosal linings. This specific expression pattern strongly supports a primary function for [MUC7](/details-gene/4589) in the protection and lubrication of epithelial surfaces exposed to the external environment. ## Pathways and Molecular Function The molecular functions of [MUC7](/details-gene/4589) are centered on its role as a heavily glycosylated protein involved in innate immunity. As expected for a mucin, it is deeply involved in pathways of protein modification, particularly '[O-linked glycosylation](/details-reactome/R-HSA-5173105)' and specifically '[O-linked glycosylation of mucins](/details-reactome/R-HSA-913709)'. These processes occur within the '[Golgi lumen](/details-go/GO:0005796)' before the protein is secreted into the extracellular space, where it may also be found in '[extracellular exosome](/details-go/GO:0070062)s'. Functionally, these complex glycan structures are critical for its role in the '[Innate immune system](/details-reactome/R-HSA-168249)'. [MUC7](/details-gene/4589) contributes to the '[antimicrobial humoral immune response](/details-go/GO:0061844)' and the '[killing of cells of another organism](/details-go/GO:0031640)'. This is achieved through its '[protein binding](/details-go/GO:0005515)' capacity, which allows it to entrap and aggregate microbes, such as *Pseudomonas aeruginosa*, preventing their adhesion to host tissues and facilitating their clearance ([Link](https://doi.org/10.1177/10454411930040030901)). Its connection to '[C-type lectin receptors (clrs)](/details-reactome/R-HSA-5621481)' suggests it may also modulate immune cell responses by interacting with pattern recognition receptors on host cells. ## Research Directions The specific function of [MUC7](/details-gene/4589) as a protective, glycosylated barrier protein makes it a subject of interest in diseases involving mucosal surfaces, such as asthma and oral pathologies. **Proposed Hypotheses:** 1. Genetic polymorphisms in [MUC7](/details-gene/4589), previously associated with asthma susceptibility ([Link](https://doi.org/10.1038/sj.ejhg.5200642)), may alter its glycosylation patterns in the airway epithelium. This could impair its ability to trap pathogens and allergens or disrupt mucociliary clearance, leading to chronic inflammation and airway hyperreactivity. 2. The specific glycoforms of [MUC7](/details-gene/4589) produced by [acinar cells of the salivary gland](/details-cell/CL0002623) are crucial determinants of oral microbiome composition. Alterations in these glycan structures, whether due to genetic variation or systemic disease (e.g., Sjögren's syndrome), could lead to dysbiosis, increasing the risk for dental caries or periodontal disease. **Experimental Approach:** To test the first hypothesis, primary human bronchial [duct epithelial cells](/details-cell/CL0000068) could be isolated from donors with different [MUC7](/details-gene/4589) genotypes linked to asthma risk. These cells would be grown in an air-liquid interface (ALI) culture to achieve differentiation. The secreted [MUC7](/details-gene/4589) from these cultures would be purified and subjected to glycoproteomic analysis by mass spectrometry to map site-specific glycosylation. Functional consequences could be assessed by measuring the binding affinity of the purified MUC7 variants to common respiratory pathogens (e.g., *Haemophilus influenzae*) and by quantifying changes in ciliary beat frequency and mucus transport rates in the ALI cultures. **Therapeutic Potential:** Given its protective and lubricating functions, [MUC7](/details-gene/4589) is a candidate for augmentation therapy rather than inhibition. For conditions characterized by deficient or dysfunctional mucus, such as xerostomia (dry mouth) or certain forms of cystic fibrosis, a recombinant, correctly glycosylated form of [MUC7](/details-gene/4589) could be a valuable therapeutic. It could potentially be formulated as a topical agent, such as a spray, rinse, or nebulized solution, to restore the natural antimicrobial and lubricating barrier of mucosal surfaces.

Genular Protein ID: 3816286220

Symbol: MUC7_HUMAN

Name: Mucin-7

UniProtKB Accession Codes:

Q8TAX7 Q9UCD7 Q9UCD8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRIDE 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 6 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7690757

Title: Molecular cloning, sequence, and specificity of expression of the gene encoding the low molecular weight human salivary mucin (MUC7).

PubMed ID: 7690757

DOI: 10.1016/s0021-9258(20)80762-5

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1445223

Title: Structural features of the low-molecular-mass human salivary mucin.

PubMed ID: 1445223

DOI: 10.1042/bj2870639

PubMed ID: 8104046

Title: Low-molecular-mass human salivary mucin, MG2: structure and binding of Pseudomonas aeruginosa.

PubMed ID: 8104046

DOI: 10.1177/10454411930040030901

PubMed ID: 11378823

Title: Genetic polymorphism of MUC7: allele frequencies and association with asthma.

PubMed ID: 11378823

DOI: 10.1038/sj.ejhg.5200642

PubMed ID: 12407114

Title: Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen.

PubMed ID: 12407114

DOI: 10.1074/jbc.m203094200

Sequence Information:

  • Length: 377
  • Mass: 39159
  • Checksum: 1BF92D1855C13F4A
  • Sequence:
    • MKTLPLFVCI CALSACFSFS EGRERDHELR HRRHHHQSPK SHFELPHYPG LLAHQKPFIR 
KSYKCLHKRC RPKLPPSPNN PPKFPNPHQP PKHPDKNSSV VNPTLVATTQ IPSVTFPSAS 
TKITTLPNVT FLPQNATTIS SRENVNTSSS VATLAPVNSP APQDTTAAPP TPSATTPAPP 
SSSAPPETTA APPTPSATTQ APPSSSAPPE TTAAPPTPPA TTPAPPSSSA PPETTAAPPT 
PSATTPAPLS SSAPPETTAV PPTPSATTLD PSSASAPPET TAAPPTPSAT TPAPPSSPAP 
QETTAAPITT PNSSPTTLAP DTSETSAAPT HQTTTSVTTQ TTTTKQPTSA PGQNKISRFL 
LYMKNLLNRI IDDMVEQ