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

Gene ID: 200958, updated on 18-May-2020

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
109.20200228 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 Functions

What's a GeneRIF?

Pathways from PubChem

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

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
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
    5097..17670
    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 Updated 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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