COBL (cordon-bleu WH2 repeat protein)

2014-08-01  

Identity

HGNC
LOCATION
7p12.1
LOCUSID
ALIAS
-
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218163492011Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly.24
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
277706362017Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.17
263346242015The Actin Nucleator Cobl Is Controlled by Calcium and Calmodulin.14
244156682014Mutagenetic and electron microscopy analysis of actin filament severing by Cordon-Bleu, a WH2 domain protein.8
274196332016COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.3

Citation

Dessen P

COBL (cordon-bleu WH2 repeat protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54226/cobl-(cordon-bleu-wh2-repeat-protein)