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Lrrc8d leucine rich repeat containing 8D [ Mus musculus (house mouse) ]

Gene ID: 231549, updated on 5-Jan-2023

Summary

Official Symbol
Lrrc8dprovided by MGI
Official Full Name
leucine rich repeat containing 8Dprovided by MGI
Primary source
MGI:MGI:1922368
See related
Ensembl:ENSMUSG00000046079 AllianceGenome:MGI:1922368
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
Lrrc5; A930019F03; 2810473G09Rik; 4930525N13Rik
Summary
Enables volume-sensitive anion channel activity. Involved in cellular glucose homeostasis. Is integral component of plasma membrane. Is expressed in several structures, including nasal cavity epithelium; nervous system; submandibular gland primordium; tooth; and vibrissa. Orthologous to human LRRC8D (leucine rich repeat containing 8 VRAC subunit D). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 6.4), large intestine adult (RPKM 3.9) and 28 other tissues See more
Orthologs
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Genomic context

See Lrrc8d in Genome Data Viewer
Location:
5; 5 E5
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (105847829..105963081)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (105699963..105815215)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32230 Neighboring gene predicted gene, 32276 Neighboring gene ribosomal protein S15A, pseudogene 5 Neighboring gene RIKEN cDNA D830014E11 gene Neighboring gene predicted gene, 54332

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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (3)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables volume-sensitive anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to volume-sensitive 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 ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to osmotic stress ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in monoatomic anion transmembrane transport ISO
Inferred from Sequence Orthology
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 taurine transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
part_of ion channel complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
volume-regulated anion channel subunit LRRC8D
Names
leucine rich repeat containing 5
leucine-rich repeat-containing protein 5
leucine-rich repeat-containing protein 8D

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_001122768.1NP_001116240.1  volume-regulated anion channel subunit LRRC8D

    See identical proteins and their annotated locations for NP_001116240.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein.
    Source sequence(s)
    AK137459, BM934577
    Consensus CDS
    CCDS19494.1
    UniProtKB/Swiss-Prot
    Q8BGR2, Q8CI13
    Related
    ENSMUSP00000057293.10, ENSMUST00000060531.16
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
  2. NM_178701.3NP_848816.3  volume-regulated anion channel subunit LRRC8D

    See identical proteins and their annotated locations for NP_848816.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1.
    Source sequence(s)
    AK050400, AK137459, AK158262, BF148057
    Consensus CDS
    CCDS19494.1
    UniProtKB/Swiss-Prot
    Q8BGR2, Q8CI13
    Related
    ENSMUSP00000113603.2, ENSMUST00000120847.8
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    105847829..105963081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011249436.2XP_011247738.1  volume-regulated anion channel subunit LRRC8D isoform X1

    See identical proteins and their annotated locations for XP_011247738.1

    UniProtKB/Swiss-Prot
    Q8BGR2, Q8CI13
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
  2. XM_006534894.5XP_006534957.1  volume-regulated anion channel subunit LRRC8D isoform X1

    See identical proteins and their annotated locations for XP_006534957.1

    UniProtKB/Swiss-Prot
    Q8BGR2, Q8CI13
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
  3. XM_006534893.3XP_006534956.1  volume-regulated anion channel subunit LRRC8D isoform X1

    See identical proteins and their annotated locations for XP_006534956.1

    UniProtKB/Swiss-Prot
    Q8BGR2, Q8CI13
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
  4. XM_036165073.1XP_036020966.1  volume-regulated anion channel subunit LRRC8D isoform X1

    UniProtKB/Swiss-Prot
    Q8CI13
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
  5. XM_036165074.1XP_036020967.1  volume-regulated anion channel subunit LRRC8D isoform X1

    UniProtKB/Swiss-Prot
    Q8CI13
    Conserved Domains (5) summary
    COG4886
    Location:597826
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:516537
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:638660
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1385
    Pannexin_like; Pannexin-like TM region of LRRC8
    NF033190
    Location:457703
    inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein