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    MUC12 mucin 12, cell surface associated [ Homo sapiens (human) ]

    Gene ID: 10071, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MUC12provided by HGNC
    Official Full Name
    mucin 12, cell surface associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7510
    See related
    Ensembl:ENSG00000205277 MIM:604609; AllianceGenome:HGNC:7510
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MUC11; MUC-11; MUC-12
    Summary
    This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]
    Expression
    Restricted expression toward colon (RPKM 48.0) See more
    Orthologs
    all
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    Genomic context

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    See MUC12 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100969565..101018936)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102274808..102341752)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100612846..100662217)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375431 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:100541229-100541778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100546705-100547685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100547686-100548665 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:100548721-100549266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100551103-100551603 Neighboring gene uncharacterized LOC124900622 Neighboring gene mucin 3A, cell surface associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100640603-100641456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100641457-100642309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100658552-100659220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26396 Neighboring gene Sharpr-MPRA regulatory region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26397 Neighboring gene MUC12 antisense RNA 1 Neighboring gene mucin 17, cell surface associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100709117-100709986 Neighboring gene RN7SK pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100727119-100727619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100730454-100731094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100731095-100731734 Neighboring gene tripartite motif containing 56

    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. Shared expression of mucin12 in Ascaris lumbricoides and the human small intestine. Hayashi I, et al. Mol Biochem Parasitol, 2019 Jan. PMID 30481538
    2. Genetic Mutation and Exosome Signature of Human Papilloma Virus Associated Oropharyngeal Cancer. Kannan A, et al. Sci Rep, 2017 Apr 6. PMID 28383029, Free PMC Article
    3. Alterations in the epithelial stem cell compartment could contribute to permanent changes in the mucosa of patients with ulcerative colitis. Dotti I, et al. Gut, 2017 Dec. PMID 27803115, Free PMC Article
    4. MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer. Matsuyama T, et al. Int J Cancer, 2010 Nov 15. PMID 20162577
    5. Two novel mucin genes down-regulated in colorectal cancer identified by differential display. Williams SJ, et al. Cancer Res, 1999 Aug 15. PMID 10463611

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
      Title: piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
    2. The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-beta signalling.
      Title: The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-β signalling.
    3. Mucin12 is a protein that shows common antigenicity in both A. lumbricoides and its human host.
      Title: Shared expression of mucin12 in Ascaris lumbricoides and the human small intestine.
    4. Patients with active ulcerative colitis(UC) showed no significant expression of MUC12 gene in mucosa compared to the group of patients with UC in remission
      Title: Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
    5. Multivariate analysis disclosed that MUC12 expression status was an independent prognostic factor in Stages II and III CRC (relative risk, 8.236; 95% confidence interval, 1.702-39.849 p = 0.009).
      Title: MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer.
    6. Reflux laryngitis is associated with down-regulation of mucin gene expression.
      Title: Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux.
    Submit: New GeneRIF Correction

    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 (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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mucin-12
    Names
    mucin-11

    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.

    Genomic

    1. NG_053126.1 RefSeqGene

      Range
      4943..54314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164462.2 → NP_001157934.1  mucin-12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC105446, AC254629
      Consensus CDS
      CCDS55139.1
      UniProtKB/Swiss-Prot
      Q9UKN1
      Related
      ENSP00000441929.1, ENST00000536621.6
      Conserved Domains (1) summary
      pfam01390
      Location:5032 → 5119
      SEA; SEA 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100969565..101018936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102274808..102341752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKN1.2 GenPept UniProtKB/Swiss-Prot:Q9UKN1

    Gene LinkOut

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

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