LRRC8E leucine rich repeat containing 8 VRAC subunit E [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC8Eprovided by HGNC
Official Full Name: leucine rich repeat containing 8 VRAC subunit Eprovided by HGNC
Primary source: HGNC:HGNC:26272
See related: Ensembl:ENSG00000171017 MIM:612891; AllianceGenome:HGNC:26272
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
Expression: Broad expression in skin (RPKM 1.3), prostate (RPKM 0.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7888510..7902016)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7889464..7902971)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7953395..7966901)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes
Title: LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of leucine rich repeat containing 8 family, member E (LRRC8E) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables volume-sensitive anion channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to volume-sensitive anion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables volume-sensitive anion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in aspartate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in aspartate transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell volume homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to osmotic stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic anion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic anion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
part_of monoatomic ion channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of monoatomic ion channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: volume-regulated anion channel subunit LRRC8E

Names: leucine rich repeat containing 8 family member E; leucine-rich repeat-containing protein 8E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050684.1 RefSeqGene

Range

5006..18512

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001268284.3 → NP_001255213.1 volume-regulated anion channel subunit LRRC8E isoform 1

See identical proteins and their annotated locations for NP_001255213.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AC010336, AK091134, BX538180, CB049178, CF593782, KF459574

Consensus CDS

CCDS12189.1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8

Related

ENSP00000479953.1, ENST00000618098.4

Conserved Domains (4) summary

cd00116
Location:520 → 760

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:537 → 559

LRR_RI; leucine-rich repeat [structural motif]

pfam12534
Location:1 → 331

Pannexin_like; Pannexin-like TM region of LRRC8

pfam13855
Location:676 → 734

LRR_8; Leucine rich repeat
NM_001268285.3 → NP_001255214.1 volume-regulated anion channel subunit LRRC8E isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC010336, AK091134, BX538180, CB049178, DA447942, KF459574

UniProtKB/Swiss-Prot

Q6NSJ5

Conserved Domains (4) summary

cd00116
Location:391 → 606

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:408 → 430

LRR_RI; leucine-rich repeat [structural motif]

pfam12534
Location:1 → 202

Pannexin_like; Pannexin-like TM region of LRRC8

pfam13855
Location:547 → 605

LRR_8; Leucine rich repeat
NM_025061.6 → NP_079337.2 volume-regulated anion channel subunit LRRC8E isoform 1

See identical proteins and their annotated locations for NP_079337.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AK091134, BX538180, CB049178, KF459574

Consensus CDS

CCDS12189.1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8

Related

ENSP00000306524.5, ENST00000306708.11

Conserved Domains (4) summary

cd00116
Location:520 → 760

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:537 → 559

LRR_RI; leucine-rich repeat [structural motif]

pfam12534
Location:1 → 331

Pannexin_like; Pannexin-like TM region of LRRC8

pfam13855
Location:676 → 734

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

7888510..7902016

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439461.1 → XP_047295417.1 volume-regulated anion channel subunit LRRC8E isoform X1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
XM_011528319.3 → XP_011526621.1 volume-regulated anion channel subunit LRRC8E isoform X1

See identical proteins and their annotated locations for XP_011526621.1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8

Conserved Domains (4) summary

cd00116
Location:520 → 760

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:537 → 559

LRR_RI; leucine-rich repeat [structural motif]

pfam12534
Location:1 → 331

Pannexin_like; Pannexin-like TM region of LRRC8

pfam13855
Location:676 → 734

LRR_8; Leucine rich repeat

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

7889464..7902971

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322217.1 → XP_054178192.1 volume-regulated anion channel subunit LRRC8E isoform X1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8
XM_054322218.1 → XP_054178193.1 volume-regulated anion channel subunit LRRC8E isoform X1

UniProtKB/Swiss-Prot

B3KR78, Q2YDY3, Q6NSJ5, Q7L236, Q8N3B0, Q9H5H8