MUC20

mucin 20, cell surface associated, the group of Mucins

Basic information

Region (hg38): 3:195720884-195741123

Links

ENSG00000176945 ∙ NCBI:200958 ∙ OMIM:610360 ∙ HGNC:23282 ∙ Uniprot:Q8N307 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MUC20 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC20 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6		6
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	6	0

Variants in MUC20

This is a list of pathogenic ClinVar variants found in the MUC20 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-195725206-C-T			Likely benign (Jun 01, 2024)
3-195725218-C-T			Likely benign (Nov 01, 2022)
3-195725731-C-T			Likely benign (Nov 01, 2022)
3-195725740-G-A			Likely benign (Mar 01, 2023)
3-195725761-C-T			Likely benign (Mar 01, 2023)
3-195725773-C-T			Likely benign (Sep 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC20	protein_coding	protein_coding	ENST00000447234	4	20242

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00472	0.889	105451	0	12	105463	0.0000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0775	268	272	0.987	0.0000151	4274
Missense in Polyphen		19	27.299	0.69601		463
Synonymous	-1.05	136	121	1.12	0.00000825	1588
Loss of Function	1.37	5	9.59	0.521	4.91e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000225	0.000225
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000218	0.0000218
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000560	0.000560

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:15314156}.
• Pathway: Signal Transduction;Post-translational protein modification;Dectin-2 family;Metabolism of proteins;C-type lectin receptors (CLRs);Innate Immune System;Immune System;MET activates RAS signaling;Signaling by MET;Signaling by Receptor Tyrosine Kinases;Termination of O-glycan biosynthesis;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.0539

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Muc20

Gene ontology

• Biological process: activation of MAPK activity;stimulatory C-type lectin receptor signaling pathway;O-glycan processing;hepatocyte growth factor receptor signaling pathway;protein homooligomerization
• Cellular component: extracellular region;Golgi lumen;plasma membrane;basal plasma membrane;apical plasma membrane;microvillus membrane