Entity Details

Primary name PCD12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NPG4
EntryNamePCD12_HUMAN
FullNameProtocadherin-12
TaxID9606
Evidenceevidence at protein level
Length1184
SequenceStatuscomplete
DateCreated2002-08-02
DateModified2021-06-02

Ontological Relatives

GenesPCDH12

GO terms

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GOName
GO:0005509 calcium ion binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0005977 glycogen metabolic process
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0008038 neuron recognition
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0060711 labyrinthine layer development
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR002126 Cadherin-likeDomainDomain
IPR013164 Cadherin, N-terminalDomainDomain
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site
IPR030720 Protocadherin-12FamilyFamily

Diseases

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Disease IDSourceNameDescription
251280 OMIMDiencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1)An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
PCD12_HUMANMYPC2_HUMANBioGRID, IntAct23414517 details