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

Gene ID: 283463, updated on 5-Mar-2024

Summary

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Official Symbol
MUC19provided by HGNC
Official Full Name
mucin 19, oligomericprovided 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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Location:
12q12
Exon count:
171
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (40393394..40570757)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (40345593..40530490)
105.20220307 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. 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
  2. [Association of Polymorphic Variants of Gene MUC19 with Asthma in Russians According to the Results of a Genome-Wide Study]. Karunas AS, et al. Genetika, 2015 Nov. PMID 26845862
  3. 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
  4. Cloning and characterization of human MUC19 gene. Zhu L, et al. Am J Respir Cell Mol Biol, 2011 Aug. PMID 21075863, Free PMC Article
  5. 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

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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].
  5. 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.
  6. 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.
  7. Presence of MUC 19 is suggestive of mucoepidermoid carcinoma
    Title: Expression of mucin (MUC) genes in mucoepidermoid carcinoma.
  8. 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.
  9. 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.
  10. MUC19 has significant potential to play a role in both physiology and pathophysiology of the middle ear.
    Title: Mucin gene 19 (MUC19) expression and response to inflammatory cytokines in middle ear epithelium.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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)

Genotypes

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_2023_10

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

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