LRRC8B (leucine rich repeat containing 8 VRAC subunit B)

2014-11-01  

Identity

HGNC
LRRC8B
LOCATION
1p22.2
LOCUSID
23507
ALIAS
TA-LRRP,TALRRP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23507
MIM: 612888
HGNC: 30692
Ensembl: ENSG00000197147

Variants:

dbSNP: 23507
ClinVar: 23507
TCGA: ENSG00000197147
COSMIC: LRRC8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197147ENST00000330947Q6P9F7
ENSG00000197147ENST00000330947A0A384N5V6
ENSG00000197147ENST00000358200Q537H9
ENSG00000197147ENST00000439853Q6P9F7
ENSG00000197147ENST00000439853A0A384N5V6
ENSG00000197147ENST00000449440C9JGJ7
ENSG00000197147ENST00000639264Q6P9F7
ENSG00000197147ENST00000639264A0A384N5V6
ENSG00000197147ENST00000640258Q6P9F7
ENSG00000197147ENST00000640258A0A384N5V6

Expression (GTEx)

0
5
10
15
20
25
30
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
150940572004LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.13
289721322017Leucine-rich repeat-containing 8B protein is associated with the endoplasmic reticulum Ca2+ leak in HEK293 cells.5

Citation

Dessen P

LRRC8B (leucine rich repeat containing 8 VRAC subunit B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68657/lrrc8b