Entity Details

Primary name FAT2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NYQ8
EntryNameFAT2_HUMAN
FullNameProtocadherin Fat 2
TaxID9606
Evidenceevidence at protein level
Length4349
SequenceStatuscomplete
DateCreated2002-08-02
DateModified2021-06-02

Ontological Relatives

GenesFAT2

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

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Golgi apparatus

Domains

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DomainNameCategoryType
IPR000742 EGF-like domainDomainDomain
IPR001791 Laminin G domainDomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR002126 Cadherin-likeDomainDomain
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site

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

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