Target intelligence / Profile preview

Transmembrane and coiled-coil domain family 2 (TMCC2)

Target
TMCC2
Molecular classification
Other (integral membrane protein, endoplasmic reticulum protein, not a receptor, enzyme, ion channel, or transporter)
01

Overview

Transmembrane and coiled-coil domain family 2 (TMCC2) is a protein coded by the TMCC2 gene and localized to the endoplasmic reticulum membrane[6][7]. It contains coiled-coil and transmembrane domains, enabling oligomerization and intracellular protein interactions, and is conserved across species. TMCC2 is implicated in the metabolic process of amyloid precursor protein (APP), potentially influencing APP cleavage and the production of amyloid-β in Alzheimer's disease[2][3][6][7]. Its dysfunction in model organisms causes neurodevelopmental defects and features resembling early-onset Alzheimer’s pathology, including neurodegeneration, synaptic pathology, and accumulation of abnormal APP metabolites[2][3]. TMCC2 is not considered a classic therapeutic target, such as a receptor or enzyme, but is notable for its protein–protein interactions, role in ER homeostasis, and association with neurodegenerative disease[7].

Other names
Transmembrane and coiled-coil domains protein 2KIAA0481hucep-11HUCEP11FLJ38497Cerebral protein 11
02

Biological functions

Amyloid precursor protein metabolic processProtein-protein interaction (via coiled-coil domains)Endoplasmic reticulum organization and intracellular localization
03

Disease associations

Neurodegenerative disease (notably Alzheimer's disease)Noonan syndrome 10Arthrogryposis multiplex congenita 2, neurogenic type

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