LRRC8D (leucine rich repeat containing 8 VRAC subunit D)

2003-12-01 Affiliation

Identity

HGNC

LRRC8D

LOCATION

1p22.2

LOCUSID

55144

ALIAS

HsLRRC8D,LRRC5

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55144
MIM: 612890
HGNC: 16992
Ensembl: ENSG00000171492

Variants:

dbSNP: 55144
ClinVar: 55144
TCGA: ENSG00000171492
COSMIC: LRRC8D

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171492	ENST00000337338	Q7L1W4
ENSG00000171492	ENST00000394593	Q7L1W4
ENSG00000171492	ENST00000414841	Q5VWA0
ENSG00000171492	ENST00000441269	E9PMF9
ENSG00000171492	ENST00000525774	E9PJ89
ENSG00000171492	ENST00000527156	E9PL08
ENSG00000171492	ENST00000532201	E9PJS7

Expression (GTEx)

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 ID	Year	Title	Citations
21555518	2011	The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.	60
15094057	2004	LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.	13

Citation

Dessen P

LRRC8D (leucine rich repeat containing 8 VRAC subunit D)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41204/lrrc8d-(leucine-rich-repeat-containing-8-vrac-subunit-d)