TMTC2 Chromosome 12
Transmembrane O-mannosyltransferase targeting cadherins 2
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What This Gene Does
The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Transmembrane O-mannosyltransferase targeting cadherins"
Locus Type
gene with protein product
Location
12q21.31
Ensembl
ENSG00000179104
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS73360282 | Health Risk | Conflicting classifications of pathogenicity | — |