LRRC8B Gene (Protein Coding)

Leucine Rich Repeat Containing 8 VRAC Subunit B

GC01P089525
GIFtS:
37
See more...

Aliases for LRRC8B Gene

Aliases for LRRC8B Gene

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

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 VRAC Subunit B) is a Protein Coding gene. Diseases associated with LRRC8B include Immunodeficiency 13 and Hereditary Lymphedema I. An important paralog of this gene is LRRC8A.

UniProtKB/Swiss-Prot Summary 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 (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can 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 (PubMed:24790029, PubMed:26824658, PubMed:28193731).

Additional gene information for LRRC8B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC8B Gene

Genomics for LRRC8B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LRRC8B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC8B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC8B

Top Transcription factor binding sites by QIAGEN in the LRRC8B gene promoter:
  • Lmo2
  • NF-1
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • POU2F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for LRRC8B Gene

Latest Assembly
chr1:89,522,626-89,597,861
(GRCh38/hg38)
Size:
75,236 bases
Orientation:
Plus strand

Previous Assembly
chr1:89,990,388-90,063,420
(GRCh37/hg19 by Entrez Gene)
Size:
73,033 bases
Orientation:
Plus strand

chr1:89,990,395-90,063,423
(GRCh37/hg19 by Ensembl)
Size:
73,029 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 Structure • Gene Density

RefSeq DNA sequence for LRRC8B Gene

Proteins for LRRC8B Gene

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  • 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:
    • Heterohexamer (Probable). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8E) to form a heterohexamer (PubMed:24790029, PubMed:26824658, PubMed:28193731). 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

Protein Expression for LRRC8B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LRRC8B Gene

  • Glycosylation at Asn78
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC8B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC8B Gene

Domains & Families for LRRC8B Gene

Gene Families for LRRC8B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for LRRC8B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC8B Gene

GenScript: Design optimal peptide antigens:
  • T-cell activation leucine repeat-rich protein (LRC8B_HUMAN)
  • LRRC8B protein (Q49AH5_HUMAN)

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

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  6. Cell Lines for research

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 (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can 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 (PubMed:24790029, PubMed:26824658, PubMed:28193731).

Phenotypes From GWAS Catalog for LRRC8B Gene

Gene Ontology (GO) - Molecular Function for LRRC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 contributes_to volume-sensitive anion channel activity IMP 28193731
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8B: view
genes like me logo Genes that share phenotypes with LRRC8B: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8B

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
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

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 TAS --
GO:0005887 integral component of plasma membrane IMP 28193731
genes like me logo Genes that share ontologies with LRRC8B: view

Pathways & Interactions for LRRC8B Gene

PathCards logo

SuperPathways for LRRC8B Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0055085 transmembrane transport TAS --
GO:0098656 anion transmembrane transport IMP 24790029
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

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No Compound Related Data Available

Transcripts for LRRC8B Gene

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mRNA/cDNA for LRRC8B Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8B

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

No ASD Table

Relevant External Links for LRRC8B Gene

GeneLoc Exon Structure for
LRRC8B

Expression for LRRC8B Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC8B Gene

mRNA expression in normal human tissues for LRRC8B Gene
mRNA expression by GTEx for LRRC8B GenemRNA expression by BioGPS for LRRC8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for LRRC8B Gene



Protein tissue co-expression partners for LRRC8B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC8B

SOURCE GeneReport for Unigene cluster for LRRC8B Gene:

Hs.482017

Evidence on tissue expression from TISSUES for LRRC8B Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with LRRC8B: view

Primer products for research

No data available for 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 30 31
  • 99.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LRRC8B 30 31
  • 91.45 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LRRC8B 30 31
  • 90.66 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LRRC8B 31
  • 89 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lrrc8b 30
  • 84.93 (n)
Mouse
(Mus musculus)
 Mammalia Lrrc8b 30 17 31
  • 83.94 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LRRC8B 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LRRC8B 30 31
  • 74.88 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LRRC8B 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lrrc8b 30
  • 68.36 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lrrc8da 31
  • 47 (a)
 ManyToMany
Species where no ortholog for LRRC8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC8B: view image

Paralogs for LRRC8B Gene

Paralogs for LRRC8B Gene

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

  • LRC8B_HUMAN
  • C9JGJ7_HUMAN
  • Q49AH5_HUMAN

Pseudogenes.org Pseudogenes for LRRC8B Gene

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

Variants for LRRC8B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC8B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs114525158 Benign: not provided 89,583,223(+) G/A
NM_001134476.2(LRRC8B):c.573G>A (p.Ser191=) 		SYNONYMOUS
rs144168873 Benign: not provided 89,582,767(+) C/T
NM_001134476.2(LRRC8B):c.117C>T (p.Ala39=) 		SYNONYMOUS
rs1570644483 Likely Benign: not provided 89,584,568(+) T/C
NM_001134476.2(LRRC8B):c.1918T>C (p.Leu640=) 		SYNONYMOUS
rs17131746 Benign: not provided. - 89,583,512(+) G/Ap.Asp288Asn
NM_001134476.2(LRRC8B):c.862G>A (p.Asp288Asn) 		MISSENSE
rs35903285 Benign: not provided 89,583,529(+) G/A
NM_001134476.2(LRRC8B):c.879G>A (p.Val293=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRRC8B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for LRRC8B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LRRC8B Gene

MalaCards: The human disease database

(4) MalaCards diseases for LRRC8B Gene - From: COP

Disorder Aliases PubMed IDs
immunodeficiency 13
  • imd13
hereditary lymphedema i
  • congenital primary lymphedema
hereditary lymphedema
  • milroy disease
agammaglobulinemia, x-linked
  • xla
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC8B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LRRC8B: view

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

Publications for LRRC8B Gene

  1. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. (PMID: 24790029) Voss FK … Jentsch TJ (Science (New York, N.Y.) 2014) 2 3 4
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
  3. Selective transport of neurotransmitters and modulators by distinct volume-regulated LRRC8 anion channels. (PMID: 28193731) Lutter D … Jentsch TJ (Journal of cell science 2017) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for LRRC8B gene in Mastermind

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