MUC4
Summary: The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mucin 4, cell surface associated | MIM:158372 | Ensembl:ENSG00000145113 | HGNC:HGNC:7514 | PA31319 | 3q29 |
Gene Categories:
DRUGGABLE GENOMEGO terms in MUC4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0002223 | stimulatory C-type lectin receptor signaling pathway |
| BP | IEA | GO:0007160 | cell-matrix adhesion |
| BP | TAS | GO:0016266 | O-glycan processing |
| BP | IMP | GO:0030277 | maintenance of gastrointestinal epithelium |
| CC | HDA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005796 | Golgi lumen |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | NAS | GO:0016020 | membrane |
| CC | NAS | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0031982 | vesicle |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | TAS | GO:0005176 | ErbB-2 class receptor binding |
| MF | NAS | GO:0030197 | extracellular matrix constituent, lubricant activity |
Gene expression in normal tissue: MUC4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MUC4
| 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 MUC4
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