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    LRRC8B leucine rich repeat containing 8 VRAC subunit B [ Homo sapiens (human) ]

    Gene ID: 23507, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LRRC8Bprovided by HGNC
    Official Full Name
    leucine rich repeat containing 8 VRAC subunit Bprovided by HGNC
    Primary source
    HGNC:HGNC:30692
    See related
    Ensembl:ENSG00000197147 MIM:612888; AllianceGenome:HGNC:30692
    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
    TALRRP; TA-LRRP
    Summary
    Contributes to volume-sensitive anion channel activity. Involved in monoatomic anion transmembrane transport. Located in cytoplasm and plasma membrane. Part of monoatomic ion channel complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC8B in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89524829..89597861)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89368070..89441117)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89990388..90063420)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:89883292-89883872 Neighboring gene guanylate binding protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105378844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:89938329-89938830 Neighboring gene MPRA-validated peak312 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:89991413-89991914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:89991915-89992416 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 leucine rich repeat containing 8 VRAC subunit C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1055 Neighboring gene NDUFA4 mitochondrial complex associated pseudogene

    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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    Related articles in PubMed

    1. Leucine-rich repeat-containing 8B protein is associated with the endoplasmic reticulum Ca(2+) leak in HEK293 cells. Ghosh A, et al. J Cell Sci, 2017 Nov 15. PMID 28972132
    2. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. Kubota K, et al. FEBS Lett, 2004 Apr 23. PMID 15094057
    3. Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels. Lutter D, et al. J Cell Sci, 2017 Mar 15. PMID 28193731
    4. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. Voss FK, et al. Science, 2014 May 9. PMID 24790029
    5. Novel Cul3 binding proteins function to remodel E3 ligase complexes. Wimuttisuk W, et al. BMC Cell Biol, 2014 Jul 10. PMID 25011449, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LRRC8B participates in intracellular Ca(2+) homeostasis by acting as a leak channel in the endoplasmic reticulum.
      Title: Leucine-rich repeat-containing 8B protein is associated with the endoplasmic reticulum Ca(2+) leak in HEK293 cells.
    2. 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.
    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 of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    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)

    Genotypes

    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 LRRC8B 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

    • KIAA0231, MGC42220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to volume-sensitive anion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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 
    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
    		  
    part_of monoatomic ion channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of monoatomic ion channel complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    volume-regulated anion channel subunit LRRC8B
    Names
    T-cell activation leucine repeat-rich protein
    epididymis secretory sperm binding protein
    leucine rich repeat containing 8 family member B
    leucine-rich repeat-containing protein 8B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001134476.2 → NP_001127948.1  volume-regulated anion channel subunit LRRC8B

      See identical proteins and their annotated locations for NP_001127948.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC099569, AW022123, BC060782, BI459217, D86984
      Consensus CDS
      CCDS724.1
      UniProtKB/Swiss-Prot
      D3DT28, Q6P9F7, Q6UY21, Q8N106, Q92627
      UniProtKB/TrEMBL
      A0A384MDX2, A0A384N5V6
      Conserved Domains (4) summary
      PLN00113
      Location:428 → 704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578 → 788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540 → 562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 334
      Pannexin_like; Pannexin-like TM region of LRRC8

    2. NM_001369817.2 → NP_001356746.1  volume-regulated anion channel subunit LRRC8B

      Status: VALIDATED

      Source sequence(s)
      AC099569
      Consensus CDS
      CCDS724.1
      UniProtKB/Swiss-Prot
      D3DT28, Q6P9F7, Q6UY21, Q8N106, Q92627
      UniProtKB/TrEMBL
      A0A384MDX2, A0A384N5V6
      Related
      ENSP00000332674.2, ENST00000330947.7
      Conserved Domains (4) summary
      PLN00113
      Location:428 → 704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578 → 788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540 → 562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 334
      Pannexin_like; Pannexin-like TM region of LRRC8

    3. NM_001369819.2 → NP_001356748.1  volume-regulated anion channel subunit LRRC8B

      Status: VALIDATED

      Source sequence(s)
      AC099569
      Consensus CDS
      CCDS724.1
      UniProtKB/Swiss-Prot
      D3DT28, Q6P9F7, Q6UY21, Q8N106, Q92627
      UniProtKB/TrEMBL
      A0A384MDX2, A0A384N5V6
      Conserved Domains (4) summary
      PLN00113
      Location:428 → 704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578 → 788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540 → 562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 334
      Pannexin_like; Pannexin-like TM region of LRRC8

    4. NM_015350.4 → NP_056165.1  volume-regulated anion channel subunit LRRC8B

      See identical proteins and their annotated locations for NP_056165.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC099569
      Consensus CDS
      CCDS724.1
      UniProtKB/Swiss-Prot
      D3DT28, Q6P9F7, Q6UY21, Q8N106, Q92627
      UniProtKB/TrEMBL
      A0A384MDX2, A0A384N5V6
      Related
      ENSP00000491377.1, ENST00000640258.1
      Conserved Domains (4) summary
      PLN00113
      Location:428 → 704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578 → 788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540 → 562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1 → 334
      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
      89524829..89597861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      89368070..89441117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9F7.2 GenPept UniProtKB/Swiss-Prot:Q6P9F7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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