Entity Details

Primary name FAT2
Entity type gene
Source Source Link

Details

PrimaryID2196
RefseqGeneNG_046979
SymbolFAT2
NameFAT atypical cadherin 2
Chromosome5
Location5q33.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-03-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFAT2_HUMAN

GO terms

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GOName
GO:0005509 calcium ion binding
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0010631 epithelial cell migration
GO:0016021 integral component of membrane
GO:0031589 cell-substrate adhesion
GO:0070062 extracellular exosome
GO:0098609 cell-cell adhesion

Diseases

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Disease IDSourceNameDescription
617769 OMIMSpinocerebellar 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. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
FAT2PDLIM7IntAct28514442 details