KBTBD8 (kelch repeat and BTB domain containing 8)

2014-11-01  

Identity

HGNC
LOCATION
3p14.1
LOCUSID
ALIAS
TA-KRP,TAKRP
FUSION GENES

Other Information

Locus ID:

NCBI: 84541
MIM: 616607
HGNC: 30691
Ensembl: ENSG00000163376

Variants:

dbSNP: 84541
ClinVar: 84541
TCGA: ENSG00000163376
COSMIC: KBTBD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163376ENST00000417314Q8NFY9
ENSG00000163376ENST00000460576Q8NFY9
ENSG00000163376ENST00000460784C9JAA6
ENSG00000163376ENST00000484414C9J331

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198935842010Identification of 15 loci influencing height in a Korean population.41
299994902018Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.0

Citation

Dessen P

KBTBD8 (kelch repeat and BTB domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64755/kbtbd8