FAT2 gene

FAT atypical cadherin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • SPINOCEREBELLAR ATAXIA 45

From UniProt:

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. [MIM:617769]

Cytogenetic Location: 5q33.1, which is the long (q) arm of chromosome 5 at position 33.1

Molecular Location: base pairs 151,504,092 to 151,594,822 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 5q33.1, which is the long (q) arm of chromosome 5 at position 33.1
  • CDHF8
  • CDHR9
  • HFAT2
  • MEGF1
  • SCA45