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

    Gene ID: 231549, updated on 27-Nov-2024

    Summary

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    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 intracellular glucose homeostasis. Located in 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, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 6.4), large intestine adult (RPKM 3.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lrrc8d in Genome Data Viewer
    Location:
    5 E5; 5 50.68 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 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 STARR-positive B cell enhancer ABC_E4772 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:106077733-106078005 Neighboring gene STARR-positive B cell enhancer ABC_E11299 Neighboring gene STARR-positive B cell enhancer ABC_E6356 Neighboring gene predicted gene, 32230 Neighboring gene predicted gene, 32276 Neighboring gene STARR-positive B cell enhancer ABC_E529 Neighboring gene STARR-positive B cell enhancer ABC_E10337 Neighboring gene STARR-positive B cell enhancer mm9_chr5:106129627-106129928 Neighboring gene ribosomal protein S15A, pseudogene 5 Neighboring gene RIKEN cDNA D830014E11 gene Neighboring gene predicted gene, 54332

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. LRRC8/VRAC anion channels enhance β-cell glucose sensing and insulin secretion. Stuhlmann T, et al. Nat Commun, 2018 May 17. PMID 29773801, Free PMC Article
    2. Renal Deletion of LRRC8/VRAC Channels Induces Proximal Tubulopathy. López-Cayuqueo KI, et al. J Am Soc Nephrol, 2022 Aug. PMID 35777784, Free PMC Article
    3. Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining. Maruyama T, et al. Nat Biotechnol, 2015 May. PMID 25798939, Free PMC Article
    4. Transfer of cGAMP into Bystander Cells via LRRC8 Volume-Regulated Anion Channels Augments STING-Mediated Interferon Responses and Anti-viral Immunity. Zhou C, et al. Immunity, 2020 May 19. PMID 32277911
    5. Accelerating functional gene discovery in osteoarthritis. Butterfield NC, et al. Nat Commun, 2021 Jan 20. PMID 33473114, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5)  1 citation
    • Targeted (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aspartate transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in aspartate transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to osmotic stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in cyclic-GMP-AMP transmembrane import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular glucose homeostasis IMP
    Inferred from Mutant Phenotype
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in monoatomic anion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein hexamerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein hexamerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in taurine transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in taurine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    part_of monoatomic ion channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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_001122768.1 → NP_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
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Related
      ENSMUSP00000057293.10, ENSMUST00000060531.16
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    2. NM_178701.3 → NP_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
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Related
      ENSMUSP00000113603.2, ENSMUST00000120847.8
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    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_000071.7 Reference GRCm39 C57BL/6J

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011247738.1

      UniProtKB/Swiss-Prot
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    2. XM_006534894.5 → XP_006534957.1  volume-regulated anion channel subunit LRRC8D isoform X1

      See identical proteins and their annotated locations for XP_006534957.1

      UniProtKB/Swiss-Prot
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    3. XM_006534893.3 → XP_006534956.1  volume-regulated anion channel subunit LRRC8D isoform X1

      See identical proteins and their annotated locations for XP_006534956.1

      UniProtKB/Swiss-Prot
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    4. XM_036165073.1 → XP_036020966.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein

    5. XM_036165074.1 → XP_036020967.1  volume-regulated anion channel subunit LRRC8D isoform X1

      UniProtKB/Swiss-Prot
      Q3UVA9, Q8BGR2, Q8CI13
      UniProtKB/TrEMBL
      Q3TI70
      Conserved Domains (5) summary
      COG4886
      Location:597 → 826
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:516 → 537
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:638 → 660
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 385
      Pannexin_like; Pannexin-like TM region of LRRC8
      NF033190
      Location:457 → 703
      inl_like_NEAT_1; NEAT domain-containing leucine-rich repeat protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGR2.1 GenPept UniProtKB/Swiss-Prot:Q8BGR2

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