Entity Details

Primary name PCD16_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96JQ0
EntryNamePCD16_HUMAN
FullNameProtocadherin-16
TaxID9606
Evidenceevidence at protein level
Length3298
SequenceStatuscomplete
DateCreated2002-02-11
DateModified2021-06-02

Ontological Relatives

GenesDCHS1

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0003192 mitral valve formation
GO:0003273 cell migration involved in endocardial cushion formation
GO:0005509 calcium ion binding
GO:0005912 adherens junction
GO:0007043 cell-cell junction assembly
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0016342 catenin complex
GO:0021915 neural tube development
GO:0022008 neurogenesis
GO:0034332 adherens junction organization
GO:0035329 hippo signaling
GO:0036342 post-anal tail morphogenesis
GO:0043931 ossification involved in bone maturation
GO:0045177 apical part of cell
GO:0045296 cadherin binding
GO:0048565 digestive tract development
GO:0072137 condensed mesenchymal cell proliferation
GO:0072659 protein localization to plasma membrane
GO:0090102 cochlea development
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR002126 Cadherin-likeDomainDomain
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site
IPR039808 CadherinFamilyFamily

Diseases

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Disease IDSourceNameDescription
601390 OMIMVan Maldergem syndrome 1 (VMLDS1)An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. The disease is caused by variants affecting the gene represented in this entry.
607829 OMIMMitral valve prolapse 2 (MVP2)A form of mitral valve prolapse, a valvular hearth disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. The disease is caused by variants affecting the gene represented in this entry.

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