MUC16
Summary: This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
mucin 16, cell surface associated | MIM:606154 | Ensembl:ENSG00000181143 | HGNC:HGNC:15582 | PA31314 | 19p13.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in MUC16
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | TAS | GO:0005796 | Golgi lumen |
CC | TAS | GO:0005886 | plasma membrane |
CC | IEA | GO:0016021 | integral component of membrane |
CC | IDA | GO:0019898 | extrinsic component of membrane |
CC | HDA | GO:0031982 | vesicle |
CC | HDA | GO:0070062 | extracellular exosome |
BP | TAS | GO:0002223 | stimulatory C-type lectin receptor signaling pathway |
BP | NAS | GO:0007155 | cell adhesion |
BP | TAS | GO:0016266 | O-glycan processing |
MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: MUC16
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MUC16
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-168249 | Innate Immune System |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-3781865 | Diseases of glycosylation |
reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-5083625 | Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) |
reactome | R-HSA-5083632 | Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) |
reactome | R-HSA-5083636 | Defective GALNT12 causes colorectal cancer 1 (CRCS1) |
reactome | R-HSA-5173105 | O-linked glycosylation |
reactome | R-HSA-5621480 | Dectin-2 family |
reactome | R-HSA-5621481 | C-type lectin receptors (CLRs) |
reactome | R-HSA-597592 | Post-translational protein modification |
reactome | R-HSA-913709 | O-linked glycosylation of mucins |
reactome | R-HSA-977068 | Termination of O-glycan biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MUC16