Entity Details
| Primary name |
TBC8B_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q0IIM8 |
| EntryName | TBC8B_HUMAN |
| FullName | TBC1 domain family member 8B |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1120 |
| SequenceStatus | complete |
| DateCreated | 2008-05-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR000195 | Rab-GTPase-TBC domain | Domain | Domain |
| IPR002048 | EF-hand domain | Domain | Domain |
| IPR004182 | GRAM domain | Domain | Domain |
| IPR011992 | EF-hand domain pair | Family | Homologous superfamily |
| IPR011993 | PH-like domain superfamily | Family | Homologous superfamily |
| IPR035969 | Rab-GTPase-TBC domain superfamily | Family | Homologous superfamily |
| IPR036012 | TBC1D8B, PH-GRAM domain 1 | Domain | Domain |
| IPR036015 | TBC1D8B, PH-GRAM domain 2 | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 301028 | OMIM | Nephrotic 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
0 interactions
| Interactor | Partner | Sources | Publications | Link |