MUC19 (mucin 19, oligomeric)

2011-02-01  

Identity

HGNC
LOCATION
12q12
LOCUSID
ALIAS
MUC-19

Other Information

Locus ID:

NCBI: 283463
MIM: 612170
HGNC: 14362
Ensembl: ENSG00000205592

Variants:

dbSNP: 283463
ClinVar: 283463
TCGA: ENSG00000205592
COSMIC: MUC19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205592ENST00000424466A0A2R8Y6K8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709
Termination of O-glycan biosynthesisREACTOMER-HSA-977068
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
Dectin-2 familyREACTOMER-HSA-5621480
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)REACTOMER-HSA-5083632
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)REACTOMER-HSA-5083625
Defective GALNT12 causes colorectal cancer 1 (CRCS1)REACTOMER-HSA-5083636

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190682162009Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.53
210721872010Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.12
188340732008Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux.10
197147622010Detailed haplotype-tagging study of germline variation of MUC19 in inflammatory bowel disease.3
210728472011Expression of mucin (MUC) genes in mucoepidermoid carcinoma.2
128827552004Genome-wide search and identification of a novel gel-forming mucin MUC19/Muc19 in glandular tissues.0
184263932008Proteomic analysis of polymeric salivary mucins: no evidence for MUC19 in human saliva.0
195333392009Mucin gene 19 (MUC19) expression and response to inflammatory cytokines in middle ear epithelium.0
236197182013Genome-wide association study signal at the 12q12 locus for Crohn's disease may represent associations with the MUC19 gene.0

Citation

Dessen P

MUC19 (mucin 19, oligomeric)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52057/muc19