Human Gene MUC20 (ENST00000447234.7_12) from GENCODE V47lift37
  Description: mucin 20, cell surface associated, transcript variant 1 (from RefSeq NM_001282506.2)
Gencode Transcript: ENST00000447234.7_12
Gencode Gene: ENSG00000176945.18_18
Transcript (Including UTRs)
   Position: hg19 chr3:195,447,849-195,460,422 Size: 12,574 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr3:195,447,879-195,460,089 Size: 12,211 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:195,447,849-195,460,422)mRNA (may differ from genome)Protein (709 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MUC20_HUMAN
DESCRIPTION: RecName: Full=Mucin-20; Short=MUC-20; Flags: Precursor;
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.
SUBUNIT: Interacts with MET; oligomerization increases affinity for MET.
SUBCELLULAR LOCATION: Secreted (Potential). Apical cell membrane. Basolateral cell membrane. Cell projection, microvillus membrane.
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.
POLYMORPHISM: The region encoding the tandem repeats is highly polymorphic. Divergence of the number of tandem repeats was seen in different cDNA libraries.
SEQUENCE CAUTION: Sequence=AAQ88814.1; Type=Frameshift; Positions=638; Sequence=BAA92597.1; Type=Miscellaneous discrepancy; Note=Dubious isoform. Probable cloning artifact;
WEB RESOURCE: Name=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MUC20
Diseases sorted by gene-association score: colorectal cancer 1 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.94 RPKM in Kidney - Cortex
Total median expression: 38.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.2030-0.173 Picture PostScript Text
3' UTR -110.90333-0.333 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q8N307
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0000187 activation of MAPK activity
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0016266 O-glycan processing
GO:0048012 hepatocyte growth factor receptor signaling pathway
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005576 extracellular region
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031528 microvillus membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AB098731 - Homo sapiens mRNA for transmembrane mucin MUC20S, complete cds.
AK311504 - Homo sapiens cDNA, FLJ18546.
AY358449 - Homo sapiens clone DNA108722 GCLW2782 (UNQ2782) mRNA, complete cds.
AK075138 - Homo sapiens cDNA FLJ90657 fis, clone PLACE1004648, weakly similar to GLUCOAMYLASE S1/S2 PRECURSOR (EC 3.2.1.3).
BC029267 - Homo sapiens mucin 20, cell surface associated, mRNA (cDNA clone MGC:34717 IMAGE:3851952), complete cds.
AK027314 - Homo sapiens cDNA FLJ14408 fis, clone HEMBA1004341.
BC044243 - Homo sapiens mucin 20, cell surface associated, mRNA (cDNA clone MGC:50835 IMAGE:5754328), complete cds.
CU688620 - Synthetic construct Homo sapiens gateway clone IMAGE:100019857 5' read MUC20 mRNA.
CU692194 - Synthetic construct Homo sapiens gateway clone IMAGE:100021489 5' read MUC20 mRNA.
JF432240 - Synthetic construct Homo sapiens clone IMAGE:100073406 mucin 20, cell surface associated (MUC20) gene, encodes complete protein.
KJ903991 - Synthetic construct Homo sapiens clone ccsbBroadEn_13385 MUC20 gene, encodes complete protein.
AK298316 - Homo sapiens cDNA FLJ53153 complete cds, highly similar to Homo sapiens mucin 20 (MUC20), mRNA.
AB037780 - Homo sapiens mRNA for KIAA1359 protein, partial cds.
JD535782 - Sequence 516806 from Patent EP1572962.
JD103856 - Sequence 84880 from Patent EP1572962.
JD460530 - Sequence 441554 from Patent EP1572962.
JD191399 - Sequence 172423 from Patent EP1572962.
JD437976 - Sequence 419000 from Patent EP1572962.
JD137046 - Sequence 118070 from Patent EP1572962.
JD382646 - Sequence 363670 from Patent EP1572962.
JD513682 - Sequence 494706 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N307 (Reactome details) participates in the following event(s):

R-HSA-8851842 MUC20 binds MET and inhibits GRB2 binding
R-HSA-913675 GALNTs transfer GalNAc from UDP-GalNAc to mucins to form Tn antigens
R-HSA-914012 GCNTs transfer GlcNAc from UDP-GlcNAc to Core 1 mucins
R-HSA-977228 Sialyltransferase I can add sialic acid to the T antigen at the alpha 6 position
R-HSA-981497 ST3GAL1-4 can add a sialic acid to the T antigen at the alpha 3 position
R-HSA-981814 GalNAc alpha-2,6-sialyltransferase II can add a sialic acid to the T antigen at the alpha 6 position
R-HSA-1964505 C1GALT1 transfers Galactose to the Tn antigen forming Core 1 glycoproteins (T antigens)
R-HSA-1964501 Addition of galactose to Core 6 glycoprotein
R-HSA-914018 Addition of GlcNAc to Core 3 forms a Core 4 glycoprotein
R-HSA-5694487 A4GNT transfers GlcNAc to core 2 mucins
R-HSA-6786012 CHST4 transfers SO4(2-) from PAPS to Core 2 mucins
R-HSA-914010 Addition of GlcNAc to the Tn antigen forms a Core 3 glycoprotein
R-HSA-977071 Sialyltransferase I can add sialic acid to the Tn antigen at the alpha 6 position
R-HSA-981809 ST6GALNAC3/4 can add a sialic acid to the sialyl T antigen to form the disialyl T antigen
R-HSA-8858500 CLEC10A binds Tn-MUC1
R-HSA-8851805 MET activates RAS signaling
R-HSA-913709 O-linked glycosylation of mucins
R-HSA-5083636 Defective GALNT12 causes colorectal cancer 1 (CRCS1)
R-HSA-5083625 Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
R-HSA-977068 Termination of O-glycan biosynthesis
R-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-6806834 Signaling by MET
R-HSA-5621480 Dectin-2 family
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-162582 Signal Transduction
R-HSA-168249 Innate Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000447234.1, ENST00000447234.2, ENST00000447234.3, ENST00000447234.4, ENST00000447234.5, ENST00000447234.6, KIAA1359, MUC20_HUMAN, NM_001282506, Q6UX97, Q76I83, Q76I85, Q86ST8, Q8N307, Q8NBY6, Q96KA1, Q9P2I8, uc320owe.1, uc320owe.2, UNQ2782/PRO7170
UCSC ID: ENST00000447234.7_12
RefSeq Accession: NM_001282506.2
Protein: Q8N307 (aka MUC20_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.