Entrez Gene ID | 10071 |
---|---|
Official Gene Symbol | MUC12 (GeneCards) |
Full name | mucin 12, cell surface associated |
Location | 7q22.1 |
Other ids | Vega : OTTHUMG00000157042 MIM : 604609 HGNC : HGNC:7510 Ensembl : ENSG00000205277 |
Other names | MUC11, MUC-11, MUC-12 |
Summary | This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29348 | 10071 | MUC12 | 7 | 100643718 | 100643718 | Autism Spectrum Disorders | MiSeq |
29388 | 10071 | MUC12 | 7 | 100645835 | 100645835 | Autism Spectrum Disorders | MiSeq |
29411 | 10071 | MUC12 | 7 | 100645744 | 100645744 | Autism Spectrum Disorders | MiSeq |
29416 | 10071 | MUC12 | 7 | 100643391 | 100643391 | Autism Spectrum Disorders | MiSeq |
29417 | 10071 | MUC12 | 7 | 100645863 | 100645863 | Autism Spectrum Disorders | MiSeq |
29426 | 10071 | MUC12 | 7 | 100645791 | 100645791 | Autism Spectrum Disorders | MiSeq |
29445 | 10071 | MUC12 | 7 | 100646887 | 100646887 | Autism Spectrum Disorders | MiSeq |
29570 | 10071 | MUC12 | 7 | 100636292 | 100636292 | Autism Spectrum Disorders | MiSeq |