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 ... See more...

Aliases for MUC20 Gene

Aliases for MUC20 Gene

  • Mucin 20, Cell Surface Associated 2 3 5
  • Mucin-20 3 4
  • MUC-20 3 4
  • Transmembrane Mucin MUC20S 3
  • KIAA1359 4

External Ids for MUC20 Gene

Previous GeneCards Identifiers for MUC20 Gene

  • GC03P196775
  • GC03P196937
  • GC03P195447
  • GC03P192723
  • GC03P195343

Summaries for MUC20 Gene

Entrez Gene Summary for MUC20 Gene

  • 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]

GeneCards Summary for MUC20 Gene

MUC20 (Mucin 20, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC20 include Tn Polyagglutination Syndrome and Colorectal Cancer 1. Among its related pathways are Metabolism of proteins and CLEC7A (Dectin-1) signaling.

UniProtKB/Swiss-Prot Summary for MUC20 Gene

  • May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression.

Gene Wiki entry for MUC20 Gene

Additional gene information for MUC20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC20 Gene

Genomics for MUC20 Gene

GeneHancer (GH) Regulatory Elements for MUC20 Gene

Promoters and enhancers for MUC20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J195720 Promoter/Enhancer 0.9 Ensembl ENCODE 517.7 +1.0 963 3.1 CLOCK SIN3A MYC POLR2A ELF1 IRF1 PKNOX1 PRDM10 RAD51 ZEB2 MUC20 lnc-SLC51A-14 SDHAP2 MUC4 ENSG00000260261 MUC20P1 piR-36305 MUC20-OT1
GH03J195719 Enhancer 0.3 ENCODE 500.7 -0.9 -887 0.2 TSC22D4 MUC20 lnc-SLC51A-14 lnc-MUC4-1 MUC20-OT1
GH03J195903 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +186.9 186916 9.2 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 USF1 FOS ZFX ZNF639 ZNF10 TNK2-AS1 TNK2 ENSG00000271662 SDHAP2 MUC20-OT1 MUC20 ENSG00000231443 PPP1R2 MUC4 ACAP2
GH03J195583 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 19.6 -136.9 -136907 2.3 CTCF CTBP1 ZBTB17 ELF1 ZFHX2 FOXA1 ZNF589 EGR1 FOXP2 ZBTB33 APOD lnc-MUC20-1 MUC20 SDHAP2 PPP1R2 RNU6ATAC24P MUC4 ENSG00000229178 ENSG00000236425 lnc-APOD-2
GH03J195657 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 16.7 -62.4 -62381 3.8 NRF1 ZFX POLR2A ZBTB26 TARDBP RFX1 CHD1 CTBP1 GATAD2B HCFC1 MUC20-OT1 ENSG00000229178 SDHAP2 MUC20 MUC20P1 lnc-MUC4-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC20

Top Transcription factor binding sites by QIAGEN in the MUC20 gene promoter:
  • AML1a
  • AP-4
  • IRF-2
  • Meis-1
  • Meis-1a
  • Meis-1b

Genomic Locations for MUC20 Gene

Genomic Locations for MUC20 Gene
chr3:195,720,882-195,741,123
(GRCh38/hg38)
Size:
20,242 bases
Orientation:
Plus strand
chr3:195,447,753-195,467,994
(GRCh37/hg19)
Size:
20,242 bases
Orientation:
Plus strand

Genomic View for MUC20 Gene

Genes around MUC20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for MUC20 Gene

  • Protein details for MUC20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N307-MUC20_HUMAN
    Recommended name:
    Mucin-20
    Protein Accession:
    Q8N307
    Secondary Accessions:
    • Q6UX97
    • Q76I83
    • Q76I85
    • Q86ST8
    • Q8NBY6
    • Q96KA1
    • Q9P2I8

    Protein attributes for MUC20 Gene

    Size:
    709 amino acids
    Molecular mass:
    71982 Da
    Quaternary structure:
    • Interacts with MET; oligomerization increases affinity for MET.
    SequenceCaution:
    • Sequence=AAQ88814.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA92597.1; Type=Miscellaneous discrepancy; Note=Dubious isoform. Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for MUC20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC20 Gene

Post-translational modifications for MUC20 Gene

  • Glycosylation at Ser69, Thr70, Thr80, Asn423, Ser547, Ser553, Ser558, Asn616, Asn622, Thr648, Thr651, and Thr652
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC20 Gene

No data available for DME Specific Peptides for MUC20 Gene

Domains & Families for MUC20 Gene

Gene Families for MUC20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MUC20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC20 Gene

GenScript: Design optimal peptide antigens:
  • Mucin-20 (MUC20_HUMAN)
genes like me logo Genes that share domains with MUC20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC20 Gene

Function for MUC20 Gene

Molecular function for MUC20 Gene

UniProtKB/Swiss-Prot Function:
May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression.

Phenotypes From GWAS Catalog for MUC20 Gene

Gene Ontology (GO) - Molecular Function for MUC20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IPI 15314156
genes like me logo Genes that share ontologies with MUC20: view
genes like me logo Genes that share phenotypes with MUC20: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC20

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC20 Gene

Localization for MUC20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC20 Gene

Secreted. Apical cell membrane. Basolateral cell membrane. Cell projection, microvillus membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC20 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 4
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MUC20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0009925 basal plasma membrane IDA 15314156
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MUC20: view

Pathways & Interactions for MUC20 Gene

genes like me logo Genes that share pathways with MUC20: view

Gene Ontology (GO) - Biological Process for MUC20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IBA 21873635
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0016266 O-glycan processing TAS --
GO:0048012 hepatocyte growth factor receptor signaling pathway IEA,IBA 21873635
genes like me logo Genes that share ontologies with MUC20: view

No data available for SIGNOR curated interactions for MUC20 Gene

Drugs & Compounds for MUC20 Gene

No Compound Related Data Available

Transcripts for MUC20 Gene

mRNA/cDNA for MUC20 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC20 Gene

No ASD Table

Relevant External Links for MUC20 Gene

GeneLoc Exon Structure for
MUC20

Expression for MUC20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC20 Gene

mRNA differential expression in normal tissues according to GTEx for MUC20 Gene

This gene is overexpressed in Kidney - Cortex (x5.1), Esophagus - Mucosa (x4.3), and Minor Salivary Gland (x4.3).

Protein differential expression in normal tissues from HIPED for MUC20 Gene

This gene is overexpressed in Urine (35.4) and Milk (33.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC20 Gene



Protein tissue co-expression partners for MUC20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC20

SOURCE GeneReport for Unigene cluster for MUC20 Gene:

Hs.308992

mRNA Expression by UniProt/SwissProt for MUC20 Gene:

Q8N307-MUC20_HUMAN
Tissue specificity: Highly expressed in kidney, moderately in placenta, lung, prostate, liver, and digestive system. In the kidney, localized in the proximal tubules but not in the glomerulus or distal tubules. Detected in most of the male urogenital tract epithelia, with the exception of epididymis.

Evidence on tissue expression from TISSUES for MUC20 Gene

  • Intestine(4.7)
  • Kidney(4.7)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MUC20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC20 Gene

Orthologs for MUC20 Gene

This gene was present in the common ancestor of mammals.

Orthologs for MUC20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC750356 30
  • 95.51 (n)
dog
(Canis familiaris)
Mammalia MUC20 31 30
  • 72.9 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Muc20 30
  • 63.92 (n)
mouse
(Mus musculus)
Mammalia Muc20 17 31 30
  • 63.39 (n)
cow
(Bos Taurus)
Mammalia MUC20 31
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC20 31
  • 18 (a)
OneToOne
Species where no ortholog for MUC20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MUC20 Gene

ENSEMBL:
Gene Tree for MUC20 (if available)
TreeFam:
Gene Tree for MUC20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC20: view image

Paralogs for MUC20 Gene

(14) SIMAP similar genes for MUC20 Gene using alignment to 8 proteins:

  • MUC20_HUMAN
  • C9JJE7_HUMAN
  • E9PH32_HUMAN
  • H7C102_HUMAN
  • I0CMJ9_HUMAN
  • I0CMK3_HUMAN
  • I0EZ59_HUMAN
  • I0EZ60_HUMAN
genes like me logo Genes that share paralogs with MUC20: view

No data available for Paralogs for MUC20 Gene

Variants for MUC20 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MUC20 Gene

MUC20_HUMAN-Q8N307
The region encoding the tandem repeats is highly polymorphic. Divergence of the number of tandem repeats was seen in different cDNA libraries.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC20 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs11923495 - p.Arg666Trp
rs1811139 - p.Val18Gly
rs2550232 - p.Thr442Ile
rs3762739 - p.Ser671Cys
rs3828408 - p.Pro590Leu

Additional dbSNP identifiers (rs#s) for MUC20 Gene

Structural Variations from Database of Genomic Variants (DGV) for MUC20 Gene

Variant ID Type Subtype PubMed ID
dgv1443e212 CNV gain 25503493
dgv185n111 CNV duplication 26073780
dgv2683n106 OTHER inversion 24896259
dgv2881e59 CNV duplication 20981092
dgv2885e59 CNV duplication 20981092
dgv5014n100 CNV gain 25217958
dgv5015n100 CNV loss 25217958
dgv5018n100 CNV loss 25217958
dgv5019n100 CNV gain+loss 25217958
dgv5020n100 CNV loss 25217958
dgv5021n100 CNV gain+loss 25217958
dgv5022n100 CNV gain 25217958
dgv5023n100 CNV loss 25217958
dgv5024n100 CNV gain 25217958
dgv5025n100 CNV gain+loss 25217958
dgv5026n100 CNV loss 25217958
dgv5027n100 CNV loss 25217958
dgv5028n100 CNV gain+loss 25217958
dgv5029n100 CNV gain 25217958
dgv5030n100 CNV loss 25217958
dgv5031n100 CNV gain+loss 25217958
dgv5032n100 CNV gain 25217958
dgv5033n100 CNV loss 25217958
dgv850n67 CNV loss 20364138
dgv8837n54 CNV loss 21841781
dgv8840n54 CNV loss 21841781
dgv8843n54 CNV loss 21841781
dgv8845n54 CNV loss 21841781
dgv905e199 CNV deletion 23128226
dgv906e199 CNV deletion 23128226
dgv968e214 CNV gain 21293372
dgv969e214 CNV gain 21293372
dgv970e214 CNV loss 21293372
esv22821 CNV gain+loss 19812545
esv2429380 CNV gain 19546169
esv2726477 CNV deletion 23290073
esv2726488 CNV deletion 23290073
esv2726489 CNV deletion 23290073
esv2726490 CNV deletion 23290073
esv2751988 CNV gain 17911159
esv2759213 CNV gain+loss 17122850
esv2760775 CNV gain+loss 21179565
esv2763776 CNV gain+loss 21179565
esv3244495 CNV duplication 24192839
esv32809 CNV gain+loss 17666407
esv3330755 CNV duplication 20981092
esv3361872 CNV duplication 20981092
esv3417335 CNV duplication 20981092
esv3418712 CNV duplication 20981092
esv3563158 CNV deletion 23714750
esv3569211 CNV loss 25503493
esv3893850 CNV gain 25118596
nsv1001387 CNV gain 25217958
nsv1006165 CNV gain 25217958
nsv1006229 CNV gain 25217958
nsv1007562 CNV gain 25217958
nsv1009523 CNV gain 25217958
nsv1010229 CNV gain+loss 25217958
nsv1010930 CNV gain+loss 25217958
nsv1068315 OTHER inversion 25765185
nsv1077430 CNV duplication 25765185
nsv1139195 CNV deletion 24896259
nsv1139806 CNV duplication 24896259
nsv1141447 CNV duplication 24896259
nsv1153989 CNV duplication 26484159
nsv1161018 CNV deletion 26073780
nsv236267 CNV deletion 16902084
nsv237976 CNV deletion 16902084
nsv428430 CNV gain+loss 18775914
nsv436752 CNV insertion 17901297
nsv436932 CNV loss 16327808
nsv469606 CNV gain+loss 16826518
nsv471428 CNV gain 19718026
nsv471621 CNV gain+loss 15918152
nsv593022 CNV gain 21841781
nsv593053 CNV loss 21841781
nsv819699 CNV loss 19587683
nsv820189 CNV gain 19587683
nsv820762 CNV duplication 20802225
nsv821242 CNV duplication 20802225
nsv822408 CNV gain 20364138
nsv822410 CNV loss 20364138
nsv822413 CNV gain 20364138
nsv829825 CNV loss 17160897
nsv950300 CNV duplication 24416366
nsv950301 CNV deletion 24416366
nsv950303 CNV duplication 24416366
nsv965248 CNV duplication 23825009
nsv997633 CNV gain 25217958

Variation tolerance for MUC20 Gene

Gene Damage Index Score: 9.29; 88.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC20

SNP Genotyping and Copy Number Assay Products

Disorders for MUC20 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MUC20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tn polyagglutination syndrome
  • tnps
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
basosquamous carcinoma
  • basisquamous cell carcinoma
chronic cervicitis
- elite association - COSMIC cancer census association via MalaCards
Search MUC20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUC20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC20 Gene

Publications for MUC20 Gene

  1. Tandem repeats polymorphism of MUC20 is an independent factor for the progression of immunoglobulin A nephropathy. (PMID: 16508246) Li G … Wang H (American journal of nephrology 2006) 3 4 41 54
  2. MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras pathway by binding to a multifunctional docking site of met. (PMID: 15314156) Higuchi T … Nakamura M (Molecular and cellular biology 2004) 3 4 23 54
  3. Molecular cloning, genomic structure, and expression analysis of MUC20, a novel mucin protein, up-regulated in injured kidney. (PMID: 14565953) Higuchi T … Nakamura M (The Journal of biological chemistry 2004) 2 3 4 54
  4. [Variable number of tandem repeats polymorphism of MUC20 is associated with the progression of IgA nephropathy]. (PMID: 16029633) Li GS … Wang HY (Zhonghua yi xue za zhi 2005) 3 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MUC20 Gene

Sources for MUC20 Gene