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Aliases for LRRC8B Gene

Aliases for LRRC8B Gene

  • Leucine Rich Repeat Containing 8 Family Member B 2 3 5
  • T-Cell Activation Leucine Repeat-Rich Protein 3 4
  • Leucine-Rich Repeat-Containing Protein 8B 3 4
  • TA-LRRP 3 4
  • T Cell Activation Leucine Repeat Rich Protein 2
  • Volume-Regulated Anion Channel Subunit LRRC8B 3
  • KIAA0231 4
  • TALRRP 3

External Ids for LRRC8B Gene

Previous GeneCards Identifiers for LRRC8B Gene

  • GC01P089737
  • GC01P089796
  • GC01P089990
  • GC01P088107

Summaries for LRRC8B Gene

GeneCards Summary for LRRC8B Gene

LRRC8B (Leucine Rich Repeat Containing 8 Family Member B) is a Protein Coding gene. An important paralog of this gene is LRRC8A.

UniProtKB/Swiss-Prot for LRRC8B Gene

  • Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC8B Gene

Genomics for LRRC8B Gene

Regulatory Elements for LRRC8B Gene

Enhancers for LRRC8B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G089552 1.3 Ensembl ENCODE dbSUPER 38.8 +28.8 28794 1.3 TAF1 YY1 ARID3A SCRT2 IKZF2 CREM JUNB CEBPB DPF2 EP300 LRRC8B LRRC8C FLJ27354 LOC105378845
GH01G089565 1.5 FANTOM5 Ensembl ENCODE dbSUPER 31.1 +42.2 42221 2.7 ATF1 NRF1 HLF CEBPB CEBPG YY1 FOXA1 POLR2A IKZF1 SCRT2 LRRC8B LRRC8D LRRC8C GBP2 LOC105378845 GC01M089607
GH01G089555 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.9 +33.1 33106 2.6 NR2F1 CEBPB CEBPG EP300 YY1 ATF4 ZNF274 ATF3 POLR2A SCRT2 LRRC8B LRRC8D GBP2 LRRC8C GBP4 GBP1 GBP5 ZNF326 LOC105378845 GC01M089607
GH01G089544 1.6 Ensembl ENCODE dbSUPER 25.7 +23.2 23210 6.6 HDGF PKNOX1 ARNT SIN3A ZNF766 CBX5 FOS KLF13 JUNB REST LRRC8B LOC105378845
GH01G089537 1.4 Ensembl ENCODE dbSUPER 24.7 +14.4 14425 2.3 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT FEZF1 CHAMP1 TCF12 ZNF121 ZNF766 LRRC8B GBP1P1 LOC105378845
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRC8B on UCSC Golden Path with GeneCards custom track

Promoters for LRRC8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009564 1056 2001 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for LRRC8B Gene

Chromosome:
1
Start:
89,524,144 bp from pter
End:
89,601,539 bp from pter
Size:
77,396 bases
Orientation:
Plus strand

Genomic View for LRRC8B Gene

Genes around LRRC8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8B Gene

Proteins for LRRC8B Gene

  • Protein details for LRRC8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P9F7-LRC8B_HUMAN
    Recommended name:
    Volume-regulated anion channel subunit LRRC8B
    Protein Accession:
    Q6P9F7
    Secondary Accessions:
    • D3DT28
    • Q6UY21
    • Q8N106
    • Q92627

    Protein attributes for LRRC8B Gene

    Size:
    803 amino acids
    Molecular mass:
    92390 Da
    Quaternary structure:
    • Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8E), possibly to form a heterohexamer (PubMed:24790029, PubMed:26824658). In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist (Probable).
    SequenceCaution:
    • Sequence=BAA13220.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC8B Gene

Post-translational modifications for LRRC8B Gene

  • Glycosylation at Asn78
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRRC8B Gene

Domains & Families for LRRC8B Gene

Gene Families for LRRC8B Gene

Suggested Antigen Peptide Sequences for LRRC8B Gene

Graphical View of Domain Structure for InterPro Entry

Q6P9F7

UniProtKB/Swiss-Prot:

LRC8B_HUMAN :
  • Belongs to the LRRC8 family.
Family:
  • Belongs to the LRRC8 family.
genes like me logo Genes that share domains with LRRC8B: view

Function for LRRC8B Gene

Molecular function for LRRC8B Gene

UniProtKB/Swiss-Prot Function:
Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

Gene Ontology (GO) - Molecular Function for LRRC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 volume-sensitive anion channel activity TAS --
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8B: view

Phenotypes for LRRC8B Gene

genes like me logo Genes that share phenotypes with LRRC8B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC8B Gene

Localization for LRRC8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC8B Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269 PubMed:24790029}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC8B gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for LRRC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24790029
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LRRC8B: view

Pathways & Interactions for LRRC8B Gene

SuperPathways for LRRC8B Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007165 signal transduction IBA --
GO:0044070 regulation of anion transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with LRRC8B: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC8B Gene

Drugs & Compounds for LRRC8B Gene

No Compound Related Data Available

Transcripts for LRRC8B Gene

Unigene Clusters for LRRC8B Gene

Leucine rich repeat containing 8 family, member B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8B Gene

No ASD Table

Relevant External Links for LRRC8B Gene

GeneLoc Exon Structure for
LRRC8B
ECgene alternative splicing isoforms for
LRRC8B

Expression for LRRC8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC8B Gene

mRNA differential expression in normal tissues according to GTEx for LRRC8B Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.4) and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for LRRC8B Gene

This gene is overexpressed in Frontal cortex (51.5), Adipocyte (10.4), and Retina (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRRC8B Gene



Protein tissue co-expression partners for LRRC8B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRRC8B Gene:

LRRC8B

SOURCE GeneReport for Unigene cluster for LRRC8B Gene:

Hs.482017

Evidence on tissue expression from TISSUES for LRRC8B Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with LRRC8B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC8B Gene

Orthologs for LRRC8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC8B 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia LRRC8B 34 35
  • 91.45 (n)
cow
(Bos Taurus)
Mammalia LRRC8B 34 35
  • 90.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8B 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8b 34
  • 84.93 (n)
mouse
(Mus musculus)
Mammalia Lrrc8b 34 16 35
  • 83.94 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC8B 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC8B 34 35
  • 74.88 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC8B 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8b 34
  • 68.36 (n)
zebrafish
(Danio rerio)
Actinopterygii lrrc8da 35
  • 47 (a)
ManyToMany
Species where no ortholog for LRRC8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRRC8B Gene

ENSEMBL:
Gene Tree for LRRC8B (if available)
TreeFam:
Gene Tree for LRRC8B (if available)

Paralogs for LRRC8B Gene

(13) SIMAP similar genes for LRRC8B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for LRRC8B Gene

genes like me logo Genes that share paralogs with LRRC8B: view

Variants for LRRC8B Gene

Sequence variations from dbSNP and Humsavar for LRRC8B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000031664 -- 89,549,334(+) ATGTT(C/T)CTATT intron-variant, utr-variant-5-prime
rs1000086693 -- 89,548,903(+) TGAGG(C/T)GTATA intron-variant, utr-variant-5-prime
rs1000149310 -- 89,587,976(+) AGAAT(A/G)GATTC intron-variant
rs1000157978 -- 89,542,090(+) ACTCT(C/T)GTGTA intron-variant
rs1000189578 -- 89,522,691(+) GAATG(C/T)ATATC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for LRRC8B Gene

Variant ID Type Subtype PubMed ID
esv26614 CNV loss 19812545
esv2665027 CNV deletion 23128226
esv3586765 CNV gain 21293372
esv3586768 CNV loss 21293372
esv3586769 CNV gain 21293372
nsv830559 CNV gain 17160897

Variation tolerance for LRRC8B Gene

Residual Variation Intolerance Score: 6.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC8B Gene

Disorders for LRRC8B Gene

Relevant External Links for LRRC8B

Genetic Association Database (GAD)
LRRC8B
Human Genome Epidemiology (HuGE) Navigator
LRRC8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC8B

No disorders were found for LRRC8B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC8B Gene

Publications for LRRC8B Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4 64
  2. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. (PMID: 24790029) Voss F.K. … Jentsch T.J. (Science 2014) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for LRRC8B Gene

Sources for LRRC8B Gene

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