TBC1D8B (TBC1 domain family member 8B)

2016-10-01  

Identity

HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
GRAMD8B,NPHS20
FUSION GENES

Other Information

Locus ID:

NCBI: 54885
MIM: 301027
HGNC: 24715
Ensembl: ENSG00000133138

Variants:

dbSNP: 54885
ClinVar: 54885
TCGA: ENSG00000133138
COSMIC: TBC1D8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133138ENST00000276175J3KN75
ENSG00000133138ENST00000310452Q0IIM8
ENSG00000133138ENST00000357242Q0IIM8
ENSG00000133138ENST00000431860H0Y552
ENSG00000133138ENST00000460545D6RC82
ENSG00000133138ENST00000481617D6RFZ2

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
306617702019TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.4
317326142019TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.0

Citation

Dessen P

TBC1D8B (TBC1 domain family member 8B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56024/tbc1d8b