NBEA (neurobeachin)

2007-02-01  

Identity

HGNC
NBEA
LOCATION
13q13.3
LOCUSID
26960
ALIAS
BCL8B,LYST2,NEDEGE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26960
MIM: 604889
HGNC: 7648
Ensembl: ENSG00000172915

Variants:

dbSNP: 26960
ClinVar: 26960
TCGA: ENSG00000172915
COSMIC: NBEA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172915ENST00000310336F5GXV7
ENSG00000172915ENST00000379939Q5T321
ENSG00000172915ENST00000400445Q8NFP9
ENSG00000172915ENST00000629018A0A0D9SF28

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD29650774
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD
PA450395metforminChemicalClinicalAnnotationassociatedPD29650774
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
127463982003The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.49
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
228695832012Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality.30
122349192002Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain.28
191359012009Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.13
224388212012Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.13
227457502012Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.13
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
202009782010Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.7

Citation

Dessen P

NBEA (neurobeachin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46498/nbea