FAT2

This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development.

Full Name

FAT Atypical Cadherin 2

Research Area

Involved in the regulation of cell migration (PubMed:18534823).

May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity).

Biological Process

Cell-cell adhesion Source: GO_Central
Cell-substrate adhesion Source: UniProtKB
Epithelial cell migration Source: UniProtKB
Homophilic cell adhesion via plasma membrane adhesion molecules Source: UniProtKB

Cellular Location

Cell membrane; Trans-Golgi network; Cell junction. Localized at adhesion zippers (early state of adherens junctions) of keratinocytes.

Involvement in disease

Spinocerebellar ataxia 45 (SCA45):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood.

Topology

Extracellular: 19-4048
Helical: 4049-4069
Cytoplasmic: 4070-4349