U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23507, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 anion transmembrane transport. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p22.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89524829..89597861)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89368070..89441117)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 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

Go to the top of the page Help
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)

Go to the top of the page Help

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous