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

Gene ID: 23507, updated on 8-Jul-2021

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
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
Expression
Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

See LRRC8B in Genome Data Viewer
Location:
1p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (89522626..89597861)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89990388..90063420)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene guanylate binding protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105378844 Neighboring gene Sharpr-MPRA regulatory region 5460 Neighboring gene LRRC8C divergent transcript Neighboring gene leucine rich repeat containing 8 VRAC subunit C

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

Associated conditions

Description Tests
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available

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

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 anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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 integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of ion channel complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
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
    Q6P9F7
    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
    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
    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
    Q6P9F7
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    89522626..89597861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541146.3XP_011539448.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_011539448.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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. XM_005270703.5XP_005270760.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_005270760.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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. XM_011541143.2XP_011539445.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_011539445.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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. XM_017000886.1XP_016856375.1  volume-regulated anion channel subunit LRRC8B isoform X2

    Related
    ENSP00000400704.2, ENST00000439853.6
    Conserved Domains (4) summary
    cd00116
    Location:510692
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:465488
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1334
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:656713
    LRR_8; Leucine rich repeat
  5. XM_011541148.2XP_011539450.1  volume-regulated anion channel subunit LRRC8B isoform X2

    Conserved Domains (4) summary
    cd00116
    Location:510692
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:465488
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1334
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:656713
    LRR_8; Leucine rich repeat
  6. XM_011541144.2XP_011539446.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_011539446.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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
  7. XM_017000884.1XP_016856373.1  volume-regulated anion channel subunit LRRC8B isoform X1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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
  8. XM_017000883.1XP_016856372.1  volume-regulated anion channel subunit LRRC8B isoform X1

    UniProtKB/Swiss-Prot
    Q6P9F7
    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
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