Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80131
Gene name	Leucine rich repeat containing 8 VRAC subunit E
Gene symbol	LRRC8E
Synonyms (NCBI Gene)	-
Chromosome	19
Chromosome location	19p13.2
Summary	This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript varian

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029143	hsa-miR-26b-5p	Microarray	19088304
MIRT1120786	hsa-miR-1913	CLIP-seq
MIRT1120787	hsa-miR-22	CLIP-seq
MIRT1120788	hsa-miR-324-3p	CLIP-seq
MIRT1120789	hsa-miR-4267	CLIP-seq
MIRT1120790	hsa-miR-4313	CLIP-seq
MIRT1120791	hsa-miR-642b	CLIP-seq
MIRT2034209	hsa-miR-1273g	CLIP-seq
MIRT2034210	hsa-miR-132	CLIP-seq
MIRT2034211	hsa-miR-133a	CLIP-seq
MIRT2034212	hsa-miR-133b	CLIP-seq
MIRT2034213	hsa-miR-2114	CLIP-seq
MIRT2034214	hsa-miR-212	CLIP-seq
MIRT2034215	hsa-miR-3194-5p	CLIP-seq
MIRT2034216	hsa-miR-3919	CLIP-seq
MIRT2034217	hsa-miR-3922-5p	CLIP-seq
MIRT2034218	hsa-miR-3925-5p	CLIP-seq
MIRT2034219	hsa-miR-3934	CLIP-seq
MIRT2034220	hsa-miR-4300	CLIP-seq
MIRT2034221	hsa-miR-4708-3p	CLIP-seq
MIRT2034222	hsa-miR-4722-3p	CLIP-seq
MIRT2034223	hsa-miR-4753-5p	CLIP-seq
MIRT2034224	hsa-miR-4763-5p	CLIP-seq
MIRT2034225	hsa-miR-4773	CLIP-seq
MIRT2034226	hsa-miR-552	CLIP-seq
MIRT2034227	hsa-miR-596	CLIP-seq
MIRT2034228	hsa-miR-920	CLIP-seq
MIRT2264571	hsa-miR-1200	CLIP-seq
MIRT2264572	hsa-miR-1207-3p	CLIP-seq
MIRT2264573	hsa-miR-1912	CLIP-seq
MIRT1120786	hsa-miR-1913	CLIP-seq
MIRT2264574	hsa-miR-1976	CLIP-seq
MIRT1120787	hsa-miR-22	CLIP-seq
MIRT1120788	hsa-miR-324-3p	CLIP-seq
MIRT2264575	hsa-miR-3670	CLIP-seq
MIRT2264576	hsa-miR-371b-5p	CLIP-seq
MIRT2264577	hsa-miR-4310	CLIP-seq
MIRT1120790	hsa-miR-4313	CLIP-seq
MIRT2264578	hsa-miR-4324	CLIP-seq
MIRT2264579	hsa-miR-4709-3p	CLIP-seq
MIRT2264580	hsa-miR-544b	CLIP-seq
MIRT2264581	hsa-miR-598	CLIP-seq
MIRT1120791	hsa-miR-642b	CLIP-seq
MIRT2453417	hsa-miR-2355-5p	CLIP-seq
MIRT2453418	hsa-miR-4690-3p	CLIP-seq
MIRT2453417	hsa-miR-2355-5p	CLIP-seq
MIRT2453418	hsa-miR-4690-3p	CLIP-seq
MIRT2453417	hsa-miR-2355-5p	CLIP-seq
MIRT1120789	hsa-miR-4267	CLIP-seq
MIRT2453418	hsa-miR-4690-3p	CLIP-seq
MIRT2563521	hsa-miR-4793-5p	CLIP-seq
MIRT1120789	hsa-miR-4267	CLIP-seq
MIRT2563521	hsa-miR-4793-5p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005225	Function	Volume-sensitive anion channel activity	IBA
GO:0005225	Function	Volume-sensitive anion channel activity	IDA	33139539
GO:0005225	Function	Volume-sensitive anion channel activity	IMP	28193731
GO:0005225	Function	Volume-sensitive anion channel activity	IMP	26824658
GO:0005515	Function	Protein binding	IPI	21516116, 24790029, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24790029
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	33139539
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	33139539
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24790029, 33139539
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	26824658, 28193731
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IDA	33139539
GO:0015810	Process	Aspartate transmembrane transport	IBA
GO:0015810	Process	Aspartate transmembrane transport	IMP	28193731
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IBA
GO:0034702	Component	Monoatomic ion channel complex	IMP	28193731
GO:0071470	Process	Cellular response to osmotic stress	IMP	28193731
GO:0098656	Process	Monoatomic anion transmembrane transport	IBA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IMP	24790029
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IBA
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IDA	33171122
GO:0140361	Process	Cyclic-GMP-AMP transmembrane import across plasma membrane	IEA

MIM	HGNC	e!Ensembl
612891	26272	ENSG00000171017

Q6NSJ5

Protein name

Volume-regulated anion channel subunit LRRC8E (Leucine-rich repeat-containing protein 8E)

Protein function

Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12534	Pannexin_like	1 → 331	Pannexin-like TM region of LRRC8	Family
PF13855	LRR_8	630 → 688	Leucine rich repeat	Repeat
PF13855	LRR_8	676 → 734	Leucine rich repeat	Repeat
PF13855	LRR_8	699 → 757	Leucine rich repeat	Repeat

Sequence

MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCTLQVTQDKIICLPNHEL
QENLSEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFINQLCYETALHWYAKYFPY
LVVIHTLIFMVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAAT
ERAAATIVAMAGTGPGKAGEGEKEKVLAEPEKVVTEPPVVTLLDKKEGEQAKALFEKVKK
FRMHVEEGDILYTMYIRQTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFC
CNHTKAHLFSKLAFCYISFVCIYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVK
NDFAFMLHLIDQYDSLYSKRFAVFLSEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLE
LALCMLPGLPDTVFELSEVESLRLEAICDITFPPGLSQLVHLQELSLLHSPARLPFSLQV
FLRDHLKVMRVKCEELREVPLWVFGLRGLEELHLEGLFPQELARAATLESLRELKQLKVL
SLRSNAGKVPASVTDVAGHLQRLSLHNDGARLVALNSLKKLAALRELELVACGLERIPHA
VFSLGALQELDLKDNHLRSIEEILSFQHCRKLVTLRLWHNQIAYVPEHVRKLRSLEQLYL
SYNKLETLPSQLGLCSGLRLLDVSHNGLHSLPPEVGLLQNLQHLALSYNALEALPEELFF
CRKLRTLLLGDNQLSQLSPHVGALRALSRLELKGNRLEALPEELGNCGGLKKAGLLVEDT
LYQGLPAEVRDKMEEE

Sequence length

796

Interactions

View interactions

	Reactome
			Miscellaneous transport and binding events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANGIOEDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
cervical cancer	Cervical Cancer	BEFREE	31691355	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31691355	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31691355	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27610895	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	27610895	★★★★★ ★☆☆☆☆ Found in Text Mining only

LRRC8E (leucine rich repeat containing 8 VRAC subunit E)