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    LRRC8C leucine rich repeat containing 8 VRAC subunit C [ Homo sapiens (human) ]

    Gene ID: 84230, updated on 14-Nov-2024

    Summary

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    Official Symbol
    LRRC8Cprovided by HGNC
    Official Full Name
    leucine rich repeat containing 8 VRAC subunit Cprovided by HGNC
    Primary source
    HGNC:HGNC:25075
    See related
    Ensembl:ENSG00000171488 MIM:612889; AllianceGenome:HGNC:25075
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD158; FAD158
    Summary
    Enables volume-sensitive anion channel activity. Involved in cyclic-GMP-AMP transmembrane import across plasma membrane and monoatomic anion transmembrane transport. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 7.4), lymph node (RPKM 5.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC8C in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89615824..89719533)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89459056..89562765)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (90098679..90185092)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 8 VRAC subunit B Neighboring gene uncharacterized LOC124904216 Neighboring gene uncharacterized LOC128092251 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:90063762-90064278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1296 Neighboring gene Sharpr-MPRA regulatory region 5460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1298 Neighboring gene LRRC8C divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1055 Neighboring gene NDUFA4 mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1299 Neighboring gene uncharacterized LOC107985743 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:90217723-90218330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:90228293-90228793 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. fad158 has a role in regulating adipocyte differentiation
      Title: The novel gene fad158, having a transmembrane domain and leucine-rich repeat, stimulates adipocyte differentiation.
    3. 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

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    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
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LRRC8C PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC138551, DKFZp586J1119

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    contributes_to volume-sensitive anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to osmotic stress IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    involved_in monoatomic anion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein hexamerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in taurine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    part_of monoatomic ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    volume-regulated anion channel subunit LRRC8C
    Names
    factor for adipocyte differentiation 158
    hypothetical protein AD158
    leucine rich repeat containing 8 family member C
    leucine rich repeat containing 8C
    leucine-rich repeat-containing protein 8C

    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_032270.5 → NP_115646.3  volume-regulated anion channel subunit LRRC8C

      Status: VALIDATED

      Source sequence(s)
      AC093423, AC099569
      Consensus CDS
      CCDS725.1
      UniProtKB/Swiss-Prot
      B3KXS9, Q29RV6, Q8TDW0, Q9H075
      Related
      ENSP00000359483.4, ENST00000370454.9
      Conserved Domains (4) summary
      COG4886
      Location:528 → 775
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:446 → 468
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:469 → 492
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 338
      Pannexin_like; Pannexin-like TM region of LRRC8

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      89615824..89719533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542282.3 → XP_011540584.1  volume-regulated anion channel subunit LRRC8C isoform X2

      See identical proteins and their annotated locations for XP_011540584.1

      UniProtKB/Swiss-Prot
      B3KXS9, Q29RV6, Q8TDW0, Q9H075
      Conserved Domains (4) summary
      COG4886
      Location:528 → 775
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:446 → 468
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:469 → 492
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 338
      Pannexin_like; Pannexin-like TM region of LRRC8

    2. XM_047432040.1 → XP_047287996.1  volume-regulated anion channel subunit LRRC8C isoform X4

    3. XM_006710960.5 → XP_006711023.1  volume-regulated anion channel subunit LRRC8C isoform X1

      Conserved Domains (4) summary
      sd00031
      Location:451 → 473
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:474 → 497
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:6 → 343
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:642 → 700
      LRR_8; Leucine rich repeat

    4. XM_011542283.3 → XP_011540585.1  volume-regulated anion channel subunit LRRC8C isoform X3

      Conserved Domains (4) summary
      sd00031
      Location:421 → 443
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:444 → 467
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:6 → 313
      Pannexin_like; Pannexin-like TM region of LRRC8
      pfam13855
      Location:612 → 670
      LRR_8; Leucine rich repeat

    5. XM_047432041.1 → XP_047287997.1  volume-regulated anion channel subunit LRRC8C isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      89459056..89562765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339133.1 → XP_054195108.1  volume-regulated anion channel subunit LRRC8C isoform X2

    2. XM_054339135.1 → XP_054195110.1  volume-regulated anion channel subunit LRRC8C isoform X4

    3. XM_054339132.1 → XP_054195107.1  volume-regulated anion channel subunit LRRC8C isoform X1

    4. XM_054339134.1 → XP_054195109.1  volume-regulated anion channel subunit LRRC8C isoform X3

    5. XM_054339136.1 → XP_054195111.1  volume-regulated anion channel subunit LRRC8C isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDW0.2 GenPept UniProtKB/Swiss-Prot:Q8TDW0

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