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

Gene ID: 200958, updated on 27-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
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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
  • 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

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