Aliases for TMTC2 Gene
External Ids for TMTC2 Gene
Previous GeneCards Identifiers for TMTC2 Gene
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]
GeneCards Summary for TMTC2 Gene
TMTC2 (Transmembrane O-Mannosyltransferase Targeting Cadherins 2) is a Protein Coding gene. Diseases associated with TMTC2 include Auditory Neuropathy, Autosomal Dominant, 1 and Open-Angle Glaucoma. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is TMTC1.
UniProtKB/Swiss-Prot Summary for TMTC2 Gene
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.