BEAN1 (brain expressed associated with NEDD4 1)

2014-08-01  

Identity

HGNC
BEAN1
LOCATION
16q21
LOCUSID
146227
ALIAS
BEAN,SCA31
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146227
MIM: 612051
HGNC: 24160
Ensembl: ENSG00000166546

Variants:

dbSNP: 146227
ClinVar: 146227
TCGA: ENSG00000166546
COSMIC: BEAN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166546ENST00000299694Q3B7T3
ENSG00000166546ENST00000536005Q3B7T3
ENSG00000166546ENST00000561796Q3B7T3
ENSG00000166546ENST00000562146J3KRN6
ENSG00000166546ENST00000562849Q3B7T3
ENSG00000166546ENST00000564819H3BRW1
ENSG00000166546ENST00000618932A0A087WTF9
ENSG00000166546ENST00000622872Q3B7T3

Expression (GTEx)

0
1
2
3
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
N/A

References

Pubmed IDYearTitleCitations
198789142009Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.75
236075452013Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.17
220492012011Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.12
211635522012SCA31 is rare in the Chinese population on Taiwan.2
268765772016O-GlcNAc regulates NEDD4-1 stability via caspase-mediated pathway.1

Citation

Dessen P

BEAN1 (brain expressed associated with NEDD4 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54151/bean1