Gene Gene information from NCBI Gene database.
Entrez ID 200958
Gene name Mucin 20, cell surface associated
Gene symbol MUC20
Synonyms (NCBI Gene)
MUC-20
Chromosome 3
Chromosome location 3q29
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 dockin
miRNA miRNA information provided by mirtarbase database.
420
miRTarBase ID miRNA Experiments Reference
MIRT718563 hsa-miR-590-3p HITS-CLIP 19536157
MIRT718562 hsa-miR-500b-3p HITS-CLIP 19536157
MIRT718561 hsa-miR-4735-5p HITS-CLIP 19536157
MIRT718560 hsa-miR-4775 HITS-CLIP 19536157
MIRT683005 hsa-miR-4438 HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005796 Component Golgi lumen TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0009925 Component Basal plasma membrane IDA 15314156
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610360 23282 ENSG00000176945
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N307
Protein name Mucin-20 (MUC-20)
Protein 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 exp
Family and domains
Tissue specificity 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 trac
Sequence
MGCLWGLALPLFFFCWEVGVSGSSAGPSTRRADTAMTTDDTEVPAMTLAPGHAALETQTL
SAETSSRASTPAGPIPEAETRGAKRISPARETRSFTKTSPNFMVLIATSVETSAASGSPE
GAGMTTVQTITGSDPREAIFDTLCTDDSSEEAKTLTMDILTLAHTSTEAKGLSSESSASS
DSPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGP
HPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGPHPV
ITPSRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSRASESSASSDGLHPVITP
SRASESSASSDGPHPVITPSRASESSASSDGPHPVITPSWSPGSDVTLLAEALVTVTNIE
VINCSITEIETTTSSIPGASDTDLIPTEGVKASSTSDPPALPDSTEAKPHITEVTASAET
LSTAGTTESAAPDATVGTPLPTNSATEREVTAPGATTLSGALVTVSRNPLEETSALSVET
PSYVKVSGAAPVSIEAGSAVGKTTSFAGSSASSYSPSEAALKNFTPSETPTMDIATKGPF
PTSRDPLPSVPPTTTNSSRGTNSTLAKITTSAKTTMKPPTATPTTARTRPTTDVSAGENG
GFLLLRLSVASPEDLTDPRVAERLMQQLHRELHAHAPHFQVSLLRVRRG
Sequence length 709
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
MET activates RAS signaling
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
IGA GLOMERULONEPHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Associate 26323930
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 23787019
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 34448730
★☆☆☆☆
Found in Text Mining only
Cystic Disease Of Lung Associate 35065708
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Associate 35065708
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Inhibit 37062177
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Inhibit 37106448
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Associate 26323930, 26673820
★☆☆☆☆
Found in Text Mining only
Eye Infections Associate 37106448
★☆☆☆☆
Found in Text Mining only
Myalgia Associate 37106448
★☆☆☆☆
Found in Text Mining only