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
247900292014Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC.141
247254102014SWELL1, a plasma membrane protein, is an essential component of volume-regulated anion channel.138
146607462003A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.38
281937312017Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels.38
297697232018Structure of a volume-regulated anion channel of the LRRC8 family.35
284369642017SWELL1 is a regulator of adipocyte size, insulin signalling and glucose homeostasis.29
107181982000Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.24
273256952016Inactivation and Anion Selectivity of Volume-regulated Anion Channels (VRACs) Depend on C-terminal Residues of the First Extracellular Loop.23
301273602018Cryo-EM structures of the human volume-regulated anion channel LRRC8.23
300950672018Structure of the human volume regulated anion channel.22

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/lrrc8a-(leucine-rich-repeat-containing-8-vrac-subunit-a)