Gene

tbc1d8b

ID

ZDB-GENE-030131-3135

Name

TBC1 domain family member 8B

Symbol

tbc1d8b Nomenclature History

Previous Names

fc28a09
si:dkey-110k5.6
wu:fc28a09

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Involved in glomerular filtration. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in nephrotic syndrome type 20. Is expressed in brain; neural tube; pectoral fin bud; and pronephric glomerulus. Orthologous to human TBC1D8B (TBC1 domain family member 8B).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Dorval et al., 2019

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Dorval et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tbc1d8b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
nephrotic syndrome type 20	Alliance	Nephrotic syndrome, type 20	301028

Associated With tbc1d8b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Domain	IPR000195	Rab-GAP-TBC domain
Domain	IPR002048	EF-hand domain
Domain	IPR004182	GRAM domain
Domain	IPR036012	TBC1D8B, PH-GRAM domain 1
Domain	IPR036015	TBC1D8B, PH-GRAM domain 2
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR035969	Rab-GAP-TBC domain superfamily