COBL (cordon-bleu WH2 repeat protein)

2014-08-01  

Identity

HGNC
COBL
LOCATION
7p12.1
LOCUSID
23242
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23242
MIM: 610317
HGNC: 22199
Ensembl: ENSG00000106078

Variants:

dbSNP: 23242
ClinVar: 23242
TCGA: ENSG00000106078
COSMIC: COBL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106078ENST00000265136O75128
ENSG00000106078ENST00000395540O75128
ENSG00000106078ENST00000395542O75128
ENSG00000106078ENST00000431948J3KR05
ENSG00000106078ENST00000441453O75128
ENSG00000106078ENST00000445054H7C1N2
ENSG00000106078ENST00000449281C9J9X1
ENSG00000106078ENST00000632460A0A0J9YWK3
ENSG00000106078ENST00000648294A0A3B3IU00

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
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
368344932023COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.1
368344932023COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.1
277706362017Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.47
277706362017Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.47
274196332016COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.4
274196332016COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.4
263346242015The Actin Nucleator Cobl Is Controlled by Calcium and Calmodulin.28
263346242015The Actin Nucleator Cobl Is Controlled by Calcium and Calmodulin.28
244156682014Mutagenetic and electron microscopy analysis of actin filament severing by Cordon-Bleu, a WH2 domain protein.11
244156682014Mutagenetic and electron microscopy analysis of actin filament severing by Cordon-Bleu, a WH2 domain protein.11
218163492011Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly.31
218163492011Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly.31
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.31

Citation

Dessen P

COBL (cordon-bleu WH2 repeat protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54226/meetings/favicon/gene-fusions/?id=54226