KBTBD8 (kelch repeat and BTB domain containing 8)

2014-11-01  

Identity

HGNC
KBTBD8
LOCATION
3p14.1
LOCUSID
84541
ALIAS
TA-KRP,TAKRP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
331090732020Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression.4
331090732020Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression.4
299994902018Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.13
299994902018Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.13
198935842010Identification of 15 loci influencing height in a Korean population.58
198935842010Identification of 15 loci influencing height in a Korean population.58

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-(kelch-repeat-and-btb-domain-containing-8)