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

Gene ID: 241296, updated on 12-May-2024

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
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Genomic context

See Lrrc8a in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene kynurenine aminotransferase 1 Neighboring gene predicted gene, 31201 Neighboring gene STARR-seq mESC enhancer starr_04089 Neighboring gene STARR-seq mESC enhancer starr_04090 Neighboring gene RIKEN cDNA 1700084E18 gene Neighboring gene STARR-positive B cell enhancer ABC_E7804 Neighboring gene STARR-seq mESC enhancer starr_04091 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E7805 Neighboring gene dolichol kinase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: Phyhd1

Clone Names

  • MGC61242

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

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)

  1. NM_177725.4NP_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:514789
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:546568
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1340
    Pannexin_like; Pannexin-like TM region of LRRC8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    30127781..30153802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)