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

Gene ID: 23507, updated on 8-Oct-2018

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; Vega:OTTHUMG00000010129
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

Genomic context

See LRRC8B in Genome Data Viewer
Location:
1p22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (89522626..89597861)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89989933..90063420)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene guanylate binding protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105378844 Neighboring gene LRRC8C divergent transcript Neighboring gene leucine rich repeat containing 8 VRAC subunit C Neighboring gene NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
volume-sensitive anion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to volume-sensitive anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
volume-sensitive anion channel activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
anion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell volume homeostasis IEA
Inferred from Electronic Annotation
more info
 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001134476.1NP_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) uses different segments for its 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
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  2. NM_015350.2NP_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 longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC099569, AF385436, AW022123, D86984
    Consensus CDS
    CCDS724.1
    UniProtKB/Swiss-Prot
    Q6P9F7
    Related
    ENSP00000400704.1, ENST00000439853.5
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  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
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  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
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  4. XM_005270701.4XP_005270758.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_005270758.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    Related
    ENSP00000332674.2, OTTHUMP00000011820, ENST00000330947.6, OTTHUMT00000028008
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  5. XM_005270702.4XP_005270759.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_005270759.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  6. XM_017000886.1XP_016856375.1  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
  7. 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
  8. XM_011541145.2XP_011539447.1  volume-regulated anion channel subunit LRRC8B isoform X1

    See identical proteins and their annotated locations for XP_011539447.1

    UniProtKB/Swiss-Prot
    Q6P9F7
    Related
    ENSP00000491377.1, ENST00000640258.1
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  9. 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
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  10. XM_017000884.1XP_016856373.1  volume-regulated anion channel subunit LRRC8B isoform X1

    UniProtKB/Swiss-Prot
    Q6P9F7
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  11. XM_017000883.1XP_016856372.1  volume-regulated anion channel subunit LRRC8B isoform X1

    UniProtKB/Swiss-Prot
    Q6P9F7
    Conserved Domains (4) summary
    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
    cl26793
    Location:428704
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
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