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    MUC19 mucin 19, oligomeric (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 283463, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MUC19provided by HGNC
    Official Full Name
    mucin 19, oligomeric (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:14362
    See related
    Ensembl:ENSG00000205592 MIM:612170; AllianceGenome:HGNC:14362
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MUC-19
    Summary
    This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014]
    Annotation information
    Annotation category: suggests misassembly
    Annotation category: partial on reference assembly
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See MUC19 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    171
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (40393394..40570757)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (40345593..40530490)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40787196..40964559)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LRRK2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6207 Neighboring gene long intergenic non-protein coding RNA 1779 Neighboring gene leucine rich repeat kinase 2 Neighboring gene uncharacterized LOC105369736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28494 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40868238-40869437 Neighboring gene microtubule associated protein 6 pseudogene Neighboring gene MPRA-validated peak1679 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr12:40912063-40912564 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40959271-40960470 Neighboring gene RNA, U6 small nuclear 713, pseudogene Neighboring gene methionyl aminopeptidase 1 pseudogene Neighboring gene contactin 1 Neighboring gene uncharacterized LOC124903069

    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
    • 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. Cloning and characterization of human MUC19 gene. Zhu L, et al. Am J Respir Cell Mol Biol, 2011 Aug. PMID 21075863, Free PMC Article
    2. Mucin gene 19 (MUC19) expression and response to inflammatory cytokines in middle ear epithelium. Kerschner JE, et al. Glycoconj J, 2009 Dec. PMID 19533339, Free PMC Article
    3. Genomic profiling and the impact of MUC19 mutation in hepatoid adenocarcinoma of the stomach. Zhu M, et al. Cancer Commun (Lond), 2022 Oct. PMID 35851588, Free PMC Article
    4. Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene. Kumar V, et al. Inflamm Bowel Dis, 2013 May. PMID 23619718
    5. Mucin gene expression in human middle ear epithelium. Kerschner JE. Laryngoscope, 2007 Sep. PMID 17667140

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METTL3 aggravates cell damage induced by Streptococcus pneumoniae via the NEAT1/CTCF/MUC19 axis.
      Title: METTL3 aggravates cell damage induced by Streptococcus pneumoniae via the NEAT1/CTCF/MUC19 axis.
    2. Genomic profiling and the impact of MUC19 mutation in hepatoid adenocarcinoma of the stomach.
      Title: Genomic profiling and the impact of MUC19 mutation in hepatoid adenocarcinoma of the stomach.
    3. Hsa_circ_0001982 promotes the progression of breast cancer through miR-1287-5p/MUC19 axis under hypoxia.
      Title: Hsa_circ_0001982 promotes the progression of breast cancer through miR-1287-5p/MUC19 axis under hypoxia.
    4. The findings suggest an oncogenic role for hsa_circ_0007534 in breast cancer by acting as a miR-593 sponge to promote MUC19 expression.
      Title: Downregulation of hsa_circ_0007534 suppresses breast cancer cell proliferation and invasion by targeting miR-593/MUC19 signal pathway.
    5. results indicate the important role of polymorphic variants of gene MUC19 in the formation of a predisposition to the development of asthma in individuals of Russian ethnicity.
      Title: [Association of Polymorphic Variants of Gene MUC19 with Asthma in Russians According to the Results of a Genome-Wide Study].
    6. data find MUC19 transcripts in salivary glands of seven subjects and demonstrate MUC19 glycoproteins in glandular mucous cells and saliva.
      Title: Salivary mucin 19 glycoproteins: innate immune functions in Streptococcus mutans-induced caries in mice and evidence for expression in human saliva.
    7. Single-nucleotide polymorphism in the MUC19 gene is associated with Crohn's disease .
      Title: Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene.
    8. Presence of MUC 19 is suggestive of mucoepidermoid carcinoma
      Title: Expression of mucin (MUC) genes in mucoepidermoid carcinoma.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Germline variation of the MUC19 gene is not attributable to the genomewide significant association of the 12q12 locus with Crohn Disease.
      Title: Detailed haplotype-tagging study of germline variation of MUC19 in inflammatory bowel disease.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35746

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mucin-19

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173600.2 → NP_775871.2  mucin-19 precursor

      See identical proteins and their annotated locations for NP_775871.2

      Status: VALIDATED

      Source sequence(s)
      HM801842
      UniProtKB/Swiss-Prot
      G3CIG0, Q7Z5P9, Q8NA85
      Related
      ENSP00000508949.1, ENST00000454784.10
      Conserved Domains (7) summary
      smart00041
      Location:8295 → 8376
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00214
      Location:8161 → 8221
      VWC; von Willebrand factor (vWF) type C domain
      smart00216
      Location:1265 → 1425
      VWD; von Willebrand factor (vWF) type D domain
      COG3210
      Location:5235 → 6216
      FhaB; Large exoprotein involved in heme utilization or adhesion [Intracellular trafficking, secretion, and vesicular transport]
      pfam01826
      Location:721 → 776
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:1003 → 1073
      C8; C8 domain
      cl17735
      Location:1238 → 1273
      VWC; von Willebrand factor type C domain

    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
      40393394..40570757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      40345593..40530490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5P9.3 GenPept UniProtKB/Swiss-Prot:Q7Z5P9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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