LRRC8A (leucine rich repeat containing 8 VRAC subunit A)

2017-08-01  

Identity

HGNC
LRRC8A
LOCATION
9q34.11
LOCUSID
56262
ALIAS
AGM5,HsLRRC8A,LRRC8,SWELL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56262
MIM: 608360
HGNC: 19027
Ensembl: ENSG00000136802

Variants:

dbSNP: 56262
ClinVar: 56262
TCGA: ENSG00000136802
COSMIC: LRRC8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136802ENST00000259324Q8IWT6
ENSG00000136802ENST00000259324A0A024R892
ENSG00000136802ENST00000372599Q8IWT6
ENSG00000136802ENST00000372599A0A024R892
ENSG00000136802ENST00000372600Q8IWT6
ENSG00000136802ENST00000372600A0A024R892

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

References

Pubmed IDYearTitleCitations
374687232024Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206.0
375247502024Swell1 channel-mediated tonic GABA release from astrocytes modulates cocaine reward.0
383505422024LRRC8A as a central mediator promotes colon cancer metastasis by regulating PIP5K1B/PIP2 pathway.2
374687232024Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206.0
375247502024Swell1 channel-mediated tonic GABA release from astrocytes modulates cocaine reward.0
383505422024LRRC8A as a central mediator promotes colon cancer metastasis by regulating PIP5K1B/PIP2 pathway.2
371298552023LRRC8A is responsible for exosome biogenesis and volume regulation in colon cancer cells.3
375439492023Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels.3
371298552023LRRC8A is responsible for exosome biogenesis and volume regulation in colon cancer cells.3
375439492023Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels.3
351450742022Small molecule SWELL1 complex induction improves glycemic control and nonalcoholic fatty liver disease in murine Type 2 diabetes.9
351450742022Small molecule SWELL1 complex induction improves glycemic control and nonalcoholic fatty liver disease in murine Type 2 diabetes.9
333569472021LRRC8A homohexameric channels poorly recapitulate VRAC regulation and pharmacology.13
334766552021Volume-regulated chloride channel regulates cell proliferation and is involved in the possible interaction between TMEM16A and LRRC8A in human metastatic oral squamous cell carcinoma cells.5
338641612021LRRC8A influences the growth of gastric cancer cells via the p53 signaling pathway.10

Citation

Dessen P

LRRC8A (leucine rich repeat containing 8 VRAC subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56915/cancer-prone-explorer/js/lib/case-report-explorer/