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    MUC8 mucin 8 [ Homo sapiens (human) ]

    Gene ID: 100129528, updated on 27-Aug-2024

    Summary

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    Official Symbol
    MUC8provided by HGNC
    Official Full Name
    mucin 8provided by HGNC
    Primary source
    HGNC:HGNC:7519
    See related
    MIM:601932; AllianceGenome:HGNC:7519
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    12q24.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132471396..132474587, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132521696..132524117, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133020592-133021279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133021967-133022654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133022655-133023341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7376 Neighboring gene uncharacterized LOC124903060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133042035-133042599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056253-133056754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133056755-133057254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133067825-133068388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7381 Neighboring gene fibrosin like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133114629-133115130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133115131-133115630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:133127278-133127491 Neighboring gene uncharacterized LOC124903061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7384 Neighboring gene microRNA 6763

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association between the length of the MUC8-minisatellite 5 region and susceptibility to chronic obstructive pulmonary disease (COPD). Lee SR, et al. Genes Genomics, 2018 Jan. PMID 29892905
    2. IL-1beta promotes the ciliogenesis of human middle ear epithelial cells: possible linkage with the expression of mucin gene 8. Choi JY, et al. Acta Otolaryngol, 2005 Mar. PMID 15966694
    3. MUC8 mucin gene up-regulation in chronic rhinosinusitis. Lee HM, et al. Ann Otol Rhinol Laryngol, 2004 Aug. PMID 15330148
    4. Chromosomal localization of a human mucin gene (MUC8) and cloning of the cDNA corresponding to the carboxy terminus. Shankar V, et al. Am J Respir Cell Mol Biol, 1997 Mar. PMID 9070607
    5. A novel human airway mucin cDNA encodes a protein with unique tandem-repeat organization. Shankar V, et al. Biochem J, 1994 Jun 1. PMID 8002930, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results revealed a genetic association between MUC8 and COPD, and that the specific short minisatellite alleles (2/2) of MUC8-MS5 may be a risk factor for COPD.
      Title: Association between the length of the MUC8-minisatellite 5 region and susceptibility to chronic obstructive pulmonary disease (COPD).
    2. The results of this study suggest for the first time that cadmium induces MUC8 expression via TLR4-mediated ERK1/2 and p38 MAPK signaling pathway in human airway epithelial cells
      Title: Cadmium induces mucin 8 expression via Toll-like receptor 4-mediated extracellular signal related kinase 1/2 and p38 mitogen-activated protein kinase in human airway epithelial cells.
    3. ATP increased P2Y-mediated upregulation of MUC8 expression; however, IL-1alpha significantly decreased the extent to which ATP/P2Y upregulated MUC8 expression.
      Title: Silencing of MUC8 by siRNA increases P2Y₂-induced airway inflammation.
    4. These results suggest that visfatin induces MUC8 and MUC5B expression through p38 MAPK/ROS/NF-kappaB signaling pathway in human airway epithelial cells.
      Title: Visfatin induces MUC8 and MUC5B expression via p38 MAPK/ROS/NF-κB in human airway epithelial cells.
    5. these results suggest that HMGB1 induces MUC8 expression in a JNK and PI3K/Akt signaling pathway-dependent manner but that HMGB1 acts in an ROS-independent manner.
      Title: High-mobility group box-1 protein induces mucin 8 expression through the activation of the JNK and PI3K/Akt signal pathways in human airway epithelial cells.
    6. MUC1, MUC5B and MUC8, but not MUC2 or MUC5AC, are up-regulated in endometrial adenocarcinomas
      Title: Differential expression of MUC genes in endometrial and cervical tissues and tumors.
    7. These findings suggest that IL-1beta, increases ciliogenesis in NHMEE cells and that MUC8 protein may play a role in this process
      Title: IL-1beta promotes the ciliogenesis of human middle ear epithelial cells: possible linkage with the expression of mucin gene 8.
    8. cAMP-response element at the -803 region of the MUC8 promoter is an important site of PGE2-induced MUC8 gene expression
      Title: Prostaglandin E2 induces MUC8 gene expression via a mechanism involving ERK MAPK/RSK1/cAMP response element binding protein activation in human airway epithelial cells.
    9. MUC8 may play an important role in the pathogenesis of sinus hypersecretion in chronic rhinosinusitis.
      Title: MUC8 mucin gene up-regulation in chronic rhinosinusitis.
    10. Gene induction by interleukin-1 beta is mediated by a sequential ERK MAPK/RSK1/CREB cascade pathway in human airway epithelial cells
      Title: Induction of MUC8 gene expression by interleukin-1 beta is mediated by a sequential ERK MAPK/RSK1/CREB cascade pathway in human airway epithelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    LOW QUALITY PROTEIN: S-antigen protein; LOW QUALITY PROTEIN: uncharacterized protein MUC8; mucin 8, tracheobronchial

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132471396..132474587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429967.1 → XP_047285923.1  LOW QUALITY PROTEIN: S-antigen protein isoform X1

      UniProtKB/TrEMBL
      Q12964

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132521696..132524117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446032.1 → XP_047301988.1  LOW QUALITY PROTEIN: uncharacterized protein MUC8 isoform X2

    Nucleotide Protein
    Heading Accession and Version

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