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

    Gene ID: 23507, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001134476.2NP_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:428704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1334
      Pannexin_like; Pannexin-like TM region of LRRC8
    2. NM_001369817.2NP_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:428704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1334
      Pannexin_like; Pannexin-like TM region of LRRC8
    3. NM_001369819.2NP_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:428704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1334
      Pannexin_like; Pannexin-like TM region of LRRC8
    4. NM_015350.4NP_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:428704
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      COG4886
      Location:578788
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:540562
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12534
      Location:1334
      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)