MUC20 mucin 20, cell surface associated [Homo sapiens] - Gene

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Summary

Official Symbol: MUC20provided by HGNC
Official Full Name: mucin 20, cell surface associatedprovided by HGNC
Primary source: HGNC:23282
Locus tag: UNQ2782/PRO7170
See related: Ensembl:ENSG00000176945; HPRD:17615; MIM:610360; Vega:OTTHUMG00000155823
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; FLJ14408; FLJ53153; KIAA1359
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 shorter isoform expressed by this gene is localized to the plasma membrane, whereas the longer isoform might be secreted. The C terminus of this protein associates with the multifunctional docking site of the met proto-oncogene and suppresses activation of some downstream met signaling cascades. The protein features a tandem repeat domain that varies between 2 and 6 copies in most individuals. The allele represented in the human reference assembly contains 12 copies. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

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Genomic context

Location :: 3q29

Sequence :: Chromosome: 3; NC_000003.11 (195447753..195464540)

See MUC20 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Reflux laryngitis is associated with down-regulation of mucin gene expression.
Title: Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux.
Observational study of gene-disease association. (HuGE Navigator)
Title: Tandem repeats polymorphism of MUC20 is an independent factor for the progression of immunoglobulin A nephropathy.
Results suggest that MUC20 is a novel regulator of the Met signaling cascade which has a role in suppression of the Grb2-Ras pathway.
Title: MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras pathway by binding to a multifunctional docking site of met.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Mucin 20, cell surface associated	P08581	MET		HPRD	PubMed
Mucin 20, cell surface associated	Mucin 20, cell surface associated	MUC20		HPRD	PubMed

Process	Evidence Code	Pubs
O-glycan processing	TAS Traceable Author Statement more info
activation of MAPK activity	IEA Inferred from Electronic Annotation more info
cellular protein metabolic process	TAS Traceable Author Statement more info
hepatocyte growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
post-translational protein modification	TAS Traceable Author Statement more info
protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed

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
cell projection	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info
microvillus membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: mucin-20

Names: mucin-20; transmembrane mucin MUC20S

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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.

mRNA and Protein(s)

NM_001098516.1 → NP_001091986.1 mucin-20 isoform S

Status: REVIEWED

Description

Transcript Variant: This variant (S) contains a distinct 5' UTR and uses a downstream start codon, compared to variant L. The resulting isoform (S) has a shorter N-terminus when compared to isoform L.

Source sequence(s)

AB037780, AC233280, BC029267, BC044243, BF883124, BM697386, BM721408, BM986861, BP352469, BU685426

UniProtKB/Swiss-Prot

Q8N307

Related

ENSP00000405629, OTTHUMP00000208735, ENST00000445522, OTTHUMT00000341838
NM_152673.2 → NP_689886.2 mucin-20 isoform L precursor

Status: REVIEWED

Description

Transcript Variant: This variant (L) represents the shorter transcript but encodes the longer isoform (L).

Source sequence(s)

AC233280, BC029267, BC044243, BF883124, BM697386, BM721408, BM986861, BP352469, BU685426, DC348309

UniProtKB/TrEMBL

E9PH32

UniProtKB/Swiss-Prot

Q8N307

Related

ENSP00000325431, ENST00000320736

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

195447753..195464540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

192723348..192736280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB098733.1	BAD06720.1
genomic	AC069513.28 (92667..105241)	None
genomic	AC233280.2 (57066..73853)	None
genomic	CH471052.2	EAW78022.1
mRNA	AB037780.1	BAA92597.1
mRNA	AB098731.1	BAD06718.1
mRNA	AK027314.1	BAB55035.1
mRNA	AK075138.1	BAC11428.1
mRNA	AK298316.1	BAH12755.1
mRNA	AK311504.1	None
mRNA	AY358449.1	AAQ88814.1
mRNA	BC029267.1	AAH29267.1
mRNA	BC044243.1	AAH44243.1
mRNA	BF883124.1	None
mRNA	BM697386.1	None
mRNA	BM721408.1	None
mRNA	BM986861.1	None
mRNA	BP352469.1	None
mRNA	BU685426.1	None
mRNA	DC348309.1	None
other-genetic	JF432240.1	ADZ15457.1