KBTBD2 (kelch repeat and BTB domain containing 2)

2014-11-01  

Identity

HGNC
KBTBD2
LOCATION
7p14.3
LOCUSID
25948
ALIAS
BKLHD1

Other Information

Locus ID:

NCBI: 25948
HGNC: 21751
Ensembl: ENSG00000170852

Variants:

dbSNP: 25948
ClinVar: 25948
TCGA: ENSG00000170852
COSMIC: KBTBD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170852ENST00000304056Q8IY47
ENSG00000170852ENST00000304056A0A024RA38
ENSG00000170852ENST00000423022C9JUE5
ENSG00000170852ENST00000452926C9JI11
ENSG00000170852ENST00000453627C9JZ29
ENSG00000170852ENST00000621876A0A087WXP9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

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
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
383323662024Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3(KBTBD2).1
383323662024Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3(KBTBD2).1

Citation

Dessen P

KBTBD2 (kelch repeat and BTB domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64751/js/lib/css/card-gene.css