Entity Details

Primary name TACSTD2
Entity type gene
Source Source Link

Details

PrimaryID4070
RefseqGeneNG_016237
SymbolTACSTD2
Nametumor associated calcium signal transducer 2
Chromosome1
Location1p32.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-11
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsTACD2_HUMAN

GO terms

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GOName
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005829 cytosol
GO:0007601 visual perception
GO:0009925 basal plasma membrane
GO:0010633 negative regulation of epithelial cell migration
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0050896 response to stimulus
GO:0051497 negative regulation of stress fiber assembly
GO:0070062 extracellular exosome
GO:0090191 negative regulation of branching involved in ureteric bud morphogenesis
GO:1900025 negative regulation of substrate adhesion-dependent cell spreading
GO:1900028 negative regulation of ruffle assembly
GO:2000146 negative regulation of cell motility
GO:2000738 positive regulation of stem cell differentiation

Diseases

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Disease IDSourceNameDescription
204870 OMIMCorneal dystrophy, gelatinous drop-like (GDLD)A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity. The disease is caused by variants affecting the gene represented in this entry.