NEBL (nebulette)

2013-05-01  

Identity

HGNC
NEBL
LOCATION
10p12.31
LOCUSID
10529
ALIAS
C10orf113,LASP2,LNEBL,bA165O3.1

Other Information

Locus ID:

NCBI: 10529
MIM: 605491
HGNC: 16932
Ensembl: ENSG00000078114

Variants:

dbSNP: 10529
ClinVar: 10529
TCGA: ENSG00000078114
COSMIC: NEBL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078114ENST00000377122O76041
ENSG00000078114ENST00000417816O76041
ENSG00000078114ENST00000434381Q5JUU7
ENSG00000078114ENST00000460652A0A0U1RQY0
ENSG00000078114ENST00000473616A0A0U1RRK0
ENSG00000078114ENST00000481592A0A0U1RRI4

Expression (GTEx)

0
50
100
150
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
150040282004Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1.38
209513262010Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.37
118228762002Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function.19
286060912017LASP2 suppresses colorectal cancer progression through JNK/p38 MAPK pathway meditated epithelial-mesenchymal transition.15
239853232013Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.13
179876592008Nebulette interacts with filamin C.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
233401732013Functional analysis of the two reciprocal fusion genes MLL-NEBL and NEBL-MLL reveal their oncogenic potential.10

Citation

Dessen P

NEBL (nebulette)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53292/nebl