Entity Details

Primary name TBC1D8B
Entity type gene
Source Source Link

Details

PrimaryID54885
RefseqGeneNG_021284
SymbolTBC1D8B
NameTBC1 domain family member 8B
ChromosomeX
LocationXq22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTBC8B_HUMAN

GO terms

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GOName
GO:0003094 glomerular filtration
GO:0005096 GTPase activator activity
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0006886 intracellular protein transport
GO:0016192 vesicle-mediated transport
GO:0090630 activation of GTPase activity

Diseases

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Disease IDSourceNameDescription
301028 OMIMNephrotic syndrome 20 (NPHS20)A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
TBC1D8BRAB8AIntAct, UniProt26824392 29125462 details
TBC1D8BATG16L1BioGRID30196744 details
TBC1D8BKIF14BioGRID31586073 details
TBC1D8BKIF20ABioGRID31586073 details