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

Gene ID: 200958, updated on 17-Jun-2019

Summary

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
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

Genomic context

See MUC20 in Genome Data Viewer
Location:
3q29
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (195720978..195733551)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195416293..195467004)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MIR570 host gene Neighboring gene microRNA 570 Neighboring gene somatomedin B domain containing 1, pseudogene Neighboring gene mucin 4, cell surface associated Neighboring gene uncharacterized LOC105374299

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • Dectin-2 family, organism-specific biosystem (from REACTOME)
    Dectin-2 family, organism-specific biosystemDendritic cell-associated C-type lectin-2 (Dectin-2) family of C-type lectin receptors (CLRs) includes Dectin-2 (CLEC6A), blood dendritic antigen 2 (BDCA2/CLEC4C), macrophage C-type lectin (MCL/CLEC4...
  • Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystem (from REACTOME)
    Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS), organism-specific biosystemGlycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1; MIM:610555) mediates the transfer of Galactose (Gal) from UDP-galactose to single O-linked GalNAc residues (Tn antigens) to...
  • Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystem (from REACTOME)
    Defective GALNT12 causes colorectal cancer 1 (CRCS1), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residue...
  • Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystem (from REACTOME)
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC), organism-specific biosystemThe family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine (GalNAc) on serine, threonine or possibly tyrosin...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • MET activates RAS signaling, organism-specific biosystem (from REACTOME)
    MET activates RAS signaling, organism-specific biosystemActivated MET receptor recruits the RAS guanyl nucleotide exchange factor (GEF) SOS1 indirectly, either through the GRB2 adapter (Ponzetto et al. 1994, Fournier et al. 1996, Shen and Novak 1997, Bess...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
  • Termination of O-glycan biosynthesis, organism-specific biosystem (from REACTOME)
    Termination of O-glycan biosynthesis, organism-specific biosystemO-glycan biosynthesis can be terminated (or modified) by the addition of sialic acid residues on Core 1 and 2 glycoproteins by sialyltransferases (Varki et al. 2009).

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14408, FLJ53153, KIAA1359, AC069513.3

Gene Ontology Provided by GOA

Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
activation of MAPK activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hepatocyte growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
microvillus membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
mucin-20
Names
transmembrane mucin MUC20S

NCBI Reference Sequences (RefSeq)

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
    5001..17672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282506.2NP_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
    Q8N307
    Related
    ENSP00000414350.2, ENST00000447234.7
  2. NM_001291833.1NP_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/Swiss-Prot
    Q8N307
    UniProtKB/TrEMBL
    A0A0G2JR26
    Conserved Domains (1) summary
    PHA03247
    Location:277438
    PHA03247; large tegument protein UL36; Provisional
  3. NM_020790.1NP_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/Swiss-Prot
    Q8N307
    UniProtKB/TrEMBL
    A0A0G2JN31
    Conserved Domains (1) summary
    PHA03247
    Location:299460
    PHA03247; large tegument protein UL36; Provisional
  4. NM_152673.3NP_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/Swiss-Prot
    Q8N307
    UniProtKB/TrEMBL
    A0A0G2JSE2
    Conserved Domains (1) summary
    PHA03247
    Location:280441
    PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187532.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187649.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187678.1 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_187688.1 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_187689.1 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_187690.1 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_187691.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    61318..73536 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.
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