Entity Details

Primary name TSN12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95859
EntryNameTSN12_HUMAN
FullNameTetraspanin-12
TaxID9606
Evidenceevidence at protein level
Length305
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesTSPAN12

GO terms

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GOName
GO:0001525 angiogenesis
GO:0005887 integral component of plasma membrane
GO:0007166 cell surface receptor signaling pathway
GO:0010842 retina layer formation
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016055 Wnt signaling pathway
GO:0045765 regulation of angiogenesis
GO:1900746 regulation of vascular endothelial growth factor signaling pathway

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR000301 Tetraspanin, animalsFamilyFamily
IPR008952 Tetraspanin, EC2 domain superfamilyFamilyHomologous superfamily
IPR018499 Tetraspanin/PeripherinFamilyFamily
IPR018503 Tetraspanin, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
613310 OMIMVitreoretinopathy, exudative 5 (EVR5)A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. The disease is caused by variants affecting the gene represented in this entry. TSPAN12 dominant and recessive mutations have been identified in patients with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous mutation carriers (PubMed:22427576).