Entity Details

Primary name TBC1D20
Entity type gene
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Details

PrimaryID128637
RefseqGeneNG_034082
SymbolTBC1D20
NameTBC1 domain family member 20
Chromosome20
Location20p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTBC20_HUMAN

GO terms

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GOName
GO:0005096 GTPase activator activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007030 Golgi organization
GO:0019068 virion assembly
GO:0030173 integral component of Golgi membrane
GO:0031267 small GTPase binding
GO:0031965 nuclear membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0043547 positive regulation of GTPase activity
GO:0044829 positive regulation by host of viral genome replication
GO:0046726 positive regulation by virus of viral protein levels in host cell
GO:0048208 COPII vesicle coating
GO:0090110 COPII-coated vesicle cargo loading
GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport

Diseases

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Disease IDSourceNameDescription
615663 OMIMWarburg micro syndrome 4 (WARBM4)A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. The disease is caused by variants affecting the gene represented in this entry.