NBEAL2 (neurobeachin like 2)

2014-11-01  

Identity

HGNC
NBEAL2
LOCATION
3p21.31
LOCUSID
23218
ALIAS
BDPLT4,GPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23218
MIM: 614169
HGNC: 31928
Ensembl: ENSG00000160796

Variants:

dbSNP: 23218
ClinVar: 23218
TCGA: ENSG00000160796
COSMIC: NBEAL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160796ENST00000416683H0Y764
ENSG00000160796ENST00000423436H7C408
ENSG00000160796ENST00000441027H7C354
ENSG00000160796ENST00000443829H7C3Y7
ENSG00000160796ENST00000450053Q6ZNJ1
ENSG00000160796ENST00000651747A0A494C1V1

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

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
217654112011Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.76
217654132011Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.60
217654122011NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.55
193675812010Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.13
303542152018NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.8
287830432017NBEAL2 is required for neutrophil and NK cell function and pathogen defense.5
280823412017The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.2
291873802018Nbeal2 interacts with Dock7, Sec16a, and Vac14.2
298699352018NBEAL2 mutations and bleeding in patients with gray platelet syndrome.2

Citation

Dessen P

NBEAL2 (neurobeachin like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70708/nbeal2