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    MUC20 mucin 20, cell surface associated [ Homo sapiens (human) ]

    Gene ID: 200958, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MUC20provided by HGNC
    Official Full Name
    mucin 20, cell surface associatedprovided by HGNC
    Primary source
    HGNC:HGNC:23282
    See related
    Ensembl:ENSG00000176945 MIM:610360; AllianceGenome:HGNC:23282
    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
    MUC-20
    Summary
    This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in gall bladder (RPKM 28.1), colon (RPKM 25.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MUC20 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195720978..195733551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (198633304..198645342, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195447849..195460422)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MIR570 host gene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:195431923-195432494 Neighboring gene microRNA 570 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437307-195437978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437979-195438649 Neighboring gene somatomedin B domain containing 1, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195453109-195453610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195461991-195462491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195466177-195466985 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195474413-195474579 Neighboring gene mucin 4, cell surface associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195489021-195489522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195495435-195495936 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195508163-195508662 Neighboring gene Sharpr-MPRA regulatory region 430 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195533677-195534240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195535933-195536496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195536497-195537060 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195543301-195544106

    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. Intracellular MUC20 variant 2 maintains mitochondrial calcium homeostasis and enhances drug resistance in gastric cancer. Fu L, et al. Gastric Cancer, 2022 May. PMID 35166958
    2. [Variable number of tandem repeats polymorphism of MUC20 is associated with the progression of IgA nephropathy]. Li GS, et al. Zhonghua Yi Xue Za Zhi, 2005 May 25. PMID 16029633
    3. Lnc-MUC20-9 binds to ROCK1 and functions as a tumor suppressor in bladder cancer. Dai R, et al. J Cell Biochem, 2020 Oct. PMID 31898364
    4. Mapping the protein domain structures of the respiratory mucins: a mucin proteome coverage study. Cao R, et al. J Proteome Res, 2012 Aug 3. PMID 22663354, Free PMC Article
    5. Molecular organization of the mucins and glycocalyx underlying mucus transport over mucosal surfaces of the airways. Kesimer M, et al. Mucosal Immunol, 2013 Mar. PMID 22929560, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intracellular MUC20 variant 2 maintains mitochondrial calcium homeostasis and enhances drug resistance in gastric cancer.
      Title: Intracellular MUC20 variant 2 maintains mitochondrial calcium homeostasis and enhances drug resistance in gastric cancer.
    2. Mucin 20 modulates proteasome capacity through c-Met signalling to increase carfilzomib sensitivity in mantle cell lymphoma.
      Title: Mucin 20 modulates proteasome capacity through c-Met signalling to increase carfilzomib sensitivity in mantle cell lymphoma.
    3. A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus.
      Title: A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus.
    4. Lnc-MUC20-9 binds to ROCK1 and functions as a tumor suppressor in bladder cancer.
      Title: Lnc-MUC20-9 binds to ROCK1 and functions as a tumor suppressor in bladder cancer.
    5. Identification of oral squamous cell carcinoma markers MUC2 and SPRR1B downstream of TANGO.
      Title: Identification of oral squamous cell carcinoma markers MUC2 and SPRR1B downstream of TANGO.
    6. MUC20 expression marks the receptive phase of the human endometrium.
      Title: MUC20 expression marks the receptive phase of the human endometrium.
    7. the combination of MUC4, MUC16 and MUC20 signature is associated with statistically significant reduced overall survival and increased hazard ratio in pancreatic, colon and stomach cancer.
      Title: Integrative analysis of the cancer genome atlas and cancer cell lines encyclopedia large-scale genomic databases: MUC4/MUC16/MUC20 signature is associated with poor survival in human carcinomas.
    8. MUC20 knockdown suppresses the malignant phenotypes of PDAC cells at least partially through the inhibition of the HGF/MET pathway.
      Title: Silencing of MUC20 suppresses the malignant character of pancreatic ductal adenocarcinoma cells through inhibition of the HGF/MET pathway.
    9. High MUC20 expression is associated wit response to chemotherapy in esophageal squamous cell carcinoma.
      Title: Possible prediction of the response of esophageal squamous cell carcinoma to neoadjuvant chemotherapy based on gene expression profiling.
    10. increased gene expression of MUC16 and MUC20 was found in patients with remission ulcerative colitis
      Title: Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14408, FLJ53153, KIAA1359, AC069513.3

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hepatocyte growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microvillus membrane 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-20
    Names
    transmembrane mucin MUC20S

    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_033877.1 RefSeqGene

      Range
      5097..17670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282506.2 → NP_001269435.1  mucin-20 isoform a precursor

      See identical proteins and their annotated locations for NP_001269435.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). This variant includes twelve mucin tandem repeats and is represented on the primary chromosome 3 assembly, and the ALT_REF_LOCI_1, ALT_REF_LOCI_3 and ALT_REF_LOCI_5 alternate haplotypes of the reference genome.
      Source sequence(s)
      AB098731, AC233280, BC044243, DC348309
      Consensus CDS
      CCDS63877.1
      UniProtKB/Swiss-Prot
      Q6UX97, Q76I83, Q76I85, Q86ST8, Q8N307, Q8NBY6, Q96KA1, Q9P2I8
      UniProtKB/TrEMBL
      C9JJE7
      Related
      ENSP00000414350.2, ENST00000447234.7

    2. NM_001291833.1 → NP_001278762.1  mucin-20 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a codon in the 5' coding region and nine mucin tandem repeat sequences in the central coding region, and also has additional polymorphisms in the coding region and UTRs, compared to variant 1. The encoded isoform (c) is shorter than isoform a. This variant includes three mucin tandem repeats and is represented on the ALT_REF_LOCI_6 alternate haplotype of the reference genome.
      Source sequence(s)
      AB098731, AC237041, DC348309
      UniProtKB/TrEMBL
      A0A0G2JR26, A0A0G2JSA8
      Conserved Domains (1) summary
      PHA03247
      Location:277 → 438
      PHA03247; large tegument protein UL36; Provisional

    3. NM_020790.1 → NP_065841.1  mucin-20 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks eight mucin tandem repeat sequences in the central coding region, and also has additional polymorphisms in the coding region and 5' UTR, compared to variant 1. The encoded isoform (d) is shorter than isoform a. This variant includes four mucin tandem repeats and is represented on the ALT_REF_LOCI_7 alternate haplotype of the reference genome.
      Source sequence(s)
      AC237104, BC029267, DC348309
      UniProtKB/TrEMBL
      A0A0G2JN31, A0A0G2JR84
      Conserved Domains (1) summary
      PHA03247
      Location:299 → 460
      PHA03247; large tegument protein UL36; Provisional

    4. NM_152673.3 → NP_689886.3  mucin-20 isoform b precursor

      See identical proteins and their annotated locations for NP_689886.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks nine mucin tandem repeat sequences, and also has additional polymorphisms in the coding region and 3' UTR, compared to variant 1. The encoded isoform (b) is shorter than isoform a. This variant includes three mucin tandem repeats and is represented on the ALT_REF_LOCI_2 and ALT_REF_LOCI_4 alternate haplotypes of the reference genome.
      Source sequence(s)
      AB098731, BC044243, DC348309
      UniProtKB/TrEMBL
      A0A0G2JNX3, A0A0G2JSE2
      Conserved Domains (1) summary
      PHA03247
      Location:280 → 441
      PHA03247; large tegument protein UL36; Provisional

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      195720978..195733551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187532.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      91475..104048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187649.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      61183..73319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187678.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      62493..75066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_187688.1 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      61183..73318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_187689.1 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      91475..104048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_187690.1 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      61190..73313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_187691.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      61318..73536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      198633304..198645342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001098516.1: Suppressed sequence

      Description
      NM_001098516.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N307.3 GenPept UniProtKB/Swiss-Prot:Q8N307

    Gene LinkOut

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

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