Lrrc8a leucine rich repeat containing 8A VRAC subunit A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrrc8aprovided by MGI
Official Full Name: leucine rich repeat containing 8A VRAC subunit Aprovided by MGI
Primary source: MGI:MGI:2652847
See related: Ensembl:ENSMUSG00000007476 AllianceGenome:MGI:2652847
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ebo; Lrrc8; SWELL1; mKIAA1437
Summary: Predicted to enable cyclic-GMP-AMP transmembrane transporter activity; identical protein binding activity; and volume-sensitive anion channel activity. Predicted to contribute to anion channel activity. Predicted to be involved in several processes, including anion transport; cell volume homeostasis; and protein hexamerization. Predicted to act upstream of or within cell differentiation; ion transport; and spermatogenesis. Predicted to be located in cell surface and plasma membrane. Predicted to be integral component of lysosomal membrane and integral component of plasma membrane. Predicted to be part of ion channel complex. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; immune system; and nervous system. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 5. Orthologous to human LRRC8A (leucine rich repeat containing 8 VRAC subunit A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 34.6), ovary adult (RPKM 30.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 21.41 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (30127781..30153802)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (30237769..30263790)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRRC8A anion channels modulate vascular reactivity via association with myosin phosphatase rho interacting protein.
Title: LRRC8A anion channels modulate vascular reactivity via association with myosin phosphatase rho interacting protein.
Adipose-targeted SWELL1 deletion exacerbates obesity- and age-related nonalcoholic fatty liver disease.
Title: Adipose-targeted SWELL1 deletion exacerbates obesity- and age-related nonalcoholic fatty liver disease.
Structure of a volume-regulated heteromeric LRRC8A/C channel.
Title: Structure of a volume-regulated heteromeric LRRC8A/C channel.
Identification of the chloride channel, leucine-rich repeat-containing protein 8, subfamily a (LRRC8A), in mouse cholangiocytes.
Title: Identification of the chloride channel, leucine-rich repeat-containing protein 8, subfamily a (LRRC8A), in mouse cholangiocytes.
LRRC8A critically regulates myofibroblast phenotypes and fibrotic remodeling following myocardial infarction.
Title: LRRC8A critically regulates myofibroblast phenotypes and fibrotic remodeling following myocardial infarction.
LRRC8A is dispensable for a variety of microglial functions and response to acute stroke.
Title: LRRC8A is dispensable for a variety of microglial functions and response to acute stroke.
Small molecule SWELL1 complex induction improves glycemic control and nonalcoholic fatty liver disease in murine Type 2 diabetes.
Title: Small molecule SWELL1 complex induction improves glycemic control and nonalcoholic fatty liver disease in murine Type 2 diabetes.
Effect of Swell1 on regulating chondrocyte hypertrophy during the condylar osteochondral development process in mice.
Title: Effect of Swell1 on regulating chondrocyte hypertrophy during the condylar osteochondral development process in mice.
The SWELL1-LRRC8 complex regulates endothelial AKT-eNOS signaling and vascular function.
Title: The SWELL1-LRRC8 complex regulates endothelial AKT-eNOS signaling and vascular function.
[Temporal and spatial expression of Swell1 gene in the development of mouse condyle cartilage].
Title: [Temporal and spatial expression of Swell1 gene in the development of mouse condyle cartilage].

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (7) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130300 (e-PCR)
- UniSTS:213586

BE197082 (e-PCR)
- UniSTS:207308

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cyclic-GMP-AMP transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
contributes_to monoatomic anion channel activity	ISO Inferred from Sequence Orthology more info
enables volume-sensitive anion channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aspartate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in aspartate transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell volume homeostasis	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in monoatomic anion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic anion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic anion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in protein hexamerization	ISO Inferred from Sequence Orthology more info
involved_in response to osmotic stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in taurine transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of monoatomic ion channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of monoatomic ion channel complex	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: volume-regulated anion channel subunit LRRC8A

Names: leucine-rich repeat-containing 8; leucine-rich repeat-containing protein 8A; protein ebouriffe

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.

mRNA and Protein(s)

NM_177725.4 → NP_808393.1 volume-regulated anion channel subunit LRRC8A

See identical proteins and their annotated locations for NP_808393.1

Status: VALIDATED

Source sequence(s)

AL845258, BQ444045

Consensus CDS

CCDS15875.1

UniProtKB/Swiss-Prot

A2AQZ0, Q80WG5

Related

ENSMUSP00000092690.3, ENSMUST00000095078.3

Conserved Domains (3) summary

COG4886
Location:514 → 789

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:546 → 568

LRR_RI; leucine-rich repeat [structural motif]

pfam12534
Location:1 → 340

Pannexin_like; Pannexin-like TM region of LRRC8