LRRC8D Gene (Protein Coding)

Leucine Rich Repeat Containing 8 VRAC Subunit D

GC01P089821
GIFtS:
35
See more...

Aliases for LRRC8D Gene

Aliases for LRRC8D Gene

  • Leucine Rich Repeat Containing 8 VRAC Subunit D 2 3 5
  • Leucine Rich Repeat Containing 8 Family Member D 2 3
  • Volume-Regulated Anion Channel Subunit LRRC8D 3 4
  • Leucine-Rich Repeat-Containing Protein 8D 3 4
  • Leucine-Rich Repeat-Containing Protein 5 3 4
  • Leucine Rich Repeat Containing 5 2 3
  • LRRC5 3 4
  • FLJ10470 2
  • LRRC8D 5

External Ids for LRRC8D Gene

Previous HGNC Symbols for LRRC8D Gene

  • LRRC5

Previous GeneCards Identifiers for LRRC8D Gene

  • GC01P089999
  • GC01P090060
  • GC01P090286
  • GC01P088403

Summaries for LRRC8D Gene

GeneCards Summary for LRRC8D Gene

LRRC8D (Leucine Rich Repeat Containing 8 VRAC Subunit D) is a Protein Coding gene. An important paralog of this gene is LRRC8A.

UniProtKB/Swiss-Prot Summary for LRRC8D 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:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). 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:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309).

Gene Wiki entry for LRRC8D Gene

Additional gene information for LRRC8D Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC8D Gene

Genomics for LRRC8D Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

GeneHancers around LRRC8D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC8D

Top Transcription factor binding sites by QIAGEN in the LRRC8D gene promoter:
  • AML1a
  • Evi-1
  • Hlf
  • NF-1
  • TBP

Genomic Locations for LRRC8D Gene

Genomic Locations for LRRC8D Gene
chr1:89,821,014-89,936,611
(GRCh38/hg38)
Size:
115,598 bases
Orientation:
Plus strand
chr1:90,286,573-90,402,170
(GRCh37/hg19)
Size:
115,598 bases
Orientation:
Plus strand

Genomic View for LRRC8D Gene

Genes around LRRC8D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC8D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC8D Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LRRC8D Gene

Proteins for LRRC8D Gene

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  • Protein details for LRRC8D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L1W4-LRC8D_HUMAN
    Recommended name:
    Volume-regulated anion channel subunit LRRC8D
    Protein Accession:
    Q7L1W4
    Secondary Accessions:
    • D3DT29
    • Q6UWB2
    • Q9NVW3

    Protein attributes for LRRC8D Gene

    Size:
    858 amino acids
    Molecular mass:
    98201 Da
    Quaternary structure:
    • Heterohexamer (Probable). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8C and/or LRRC8E) to form a heterohexamer (PubMed:24782309, PubMed:26530471, PubMed:28193731, 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=AAQ89233.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91631.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC8D Gene

Protein Expression for LRRC8D Gene

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

Post-translational modifications for LRRC8D Gene

  • Glycosylation at Thr68, Thr76, Thr77, Thr114, and Thr118
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC8D Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for LRRC8D

No data available for DME Specific Peptides for LRRC8D Gene

Domains & Families for LRRC8D Gene

Gene Families for LRRC8D Gene

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

Protein Domains for LRRC8D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC8D Gene

GenScript: Design optimal peptide antigens:
  • Leucine rich repeat containing 8 family, member D (B1AP11_HUMAN)
  • Leucine-rich repeat-containing protein 5 (LRC8D_HUMAN)
  • LRRC8D protein (Q96GG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L1W4

UniProtKB/Swiss-Prot:

LRC8D_HUMAN :
  • Belongs to the LRRC8 family.
Family:
  • Belongs to the LRRC8 family.
genes like me logo Genes that share domains with LRRC8D: view

Function for LRRC8D Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for LRRC8D 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:26530471, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). 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:24782309, PubMed:24790029, PubMed:26824658, PubMed:28193731). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Mediates the import of the antibiotic blasticidin-S into the cell (PubMed:24782309).

Phenotypes From GWAS Catalog for LRRC8D Gene

Gene Ontology (GO) - Molecular Function for LRRC8D 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 LRRC8D: view
genes like me logo Genes that share phenotypes with LRRC8D: view

Animal Models for LRRC8D Gene

MGI Knock Outs for LRRC8D:
  • Lrrc8d Lrrc8d<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC8D

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8D

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LRRC8D Gene

Localization for LRRC8D Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC8D 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 (PubMed:24782309, PubMed:24790029). Requires LRRC8A for expression at the cell membrane (PubMed:24790029). {ECO:0000269 PubMed:24782309, 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 LRRC8D gene
Compartment Confidence
plasma membrane 5
nucleus 3
endoplasmic reticulum 3
mitochondrion 2
extracellular 1
cytoskeleton 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRC8D 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 26824658
genes like me logo Genes that share ontologies with LRRC8D: view

Pathways & Interactions for LRRC8D Gene

PathCards logo

SuperPathways for LRRC8D Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA --
GO:0006811 ion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015734 taurine transport IMP 28193731
GO:0015810 aspartate transmembrane transport IMP 28193731
genes like me logo Genes that share ontologies with LRRC8D: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC8D Gene

Drugs & Compounds for LRRC8D Gene

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  1. Drug
No Compound Related Data Available

Transcripts for LRRC8D Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LRRC8D Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8D

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8D Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - - -
SP4:
SP5: - - - - - -
SP6: - -
SP7: -

Relevant External Links for LRRC8D Gene

GeneLoc Exon Structure for
LRRC8D

Expression for LRRC8D Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC8D Gene

mRNA expression in normal human tissues for LRRC8D Gene
mRNA expression by GTEx for LRRC8D GenemRNA expression by BioGPS for LRRC8D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRRC8D Gene

This gene is overexpressed in Adrenal (43.8), Lung (13.5), and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRRC8D Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC8D

SOURCE GeneReport for Unigene cluster for LRRC8D Gene:

Hs.482087

Evidence on tissue expression from TISSUES for LRRC8D Gene

  • Nervous system(3.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with LRRC8D: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC8D Gene

Orthologs for LRRC8D Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LRRC8D 30 31
  • 99.49 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LRRC8D 30 31
  • 93.12 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LRRC8D 30 31
  • 92.54 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lrrc8d 30
  • 86.4 (n)
Mouse
(Mus musculus)
 Mammalia Lrrc8d 30 17 31
  • 86.36 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LRRC8D 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LRRC8D 30 31
  • 81.4 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LRRC8D 31
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lrrc8d 30
  • 75.15 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lrrc8db 30 31
  • 72.1 (n)
 OneToOne
Dr.19720 30
Species where no ortholog for LRRC8D 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)
  • Oppossum (Monodelphis domestica)
  • 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 LRRC8D Gene

ENSEMBL:
Gene Tree for LRRC8D (if available)
TreeFam:
Gene Tree for LRRC8D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC8D: view image

Paralogs for LRRC8D Gene

Paralogs for LRRC8D Gene

(7) SIMAP similar genes for LRRC8D Gene using alignment to 7 proteins:

  • LRC8D_HUMAN
  • E9PJ89_HUMAN
  • E9PJS7_HUMAN
  • E9PL08_HUMAN
  • E9PMF9_HUMAN
  • Q5VWA0_HUMAN
  • Q96GG5_HUMAN
genes like me logo Genes that share paralogs with LRRC8D: view

Variants for LRRC8D Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC8D Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11552246 - p.Ser371Tyr

Additional dbSNP identifiers (rs#s) for LRRC8D Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC8D Gene

Variant ID Type Subtype PubMed ID
esv3303537 CNV mobile element insertion 20981092
esv3331862 CNV insertion 20981092
esv3388679 CNV insertion 20981092
esv3586772 CNV gain 21293372
nsv1000666 CNV gain 25217958
nsv1832 CNV deletion 18451855

Variation tolerance for LRRC8D Gene

Residual Variation Intolerance Score: 8.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC8D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC8D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC8D Gene

Disorders for LRRC8D Gene

Additional Disease Information for LRRC8D

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for LRRC8D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC8D Gene

Publications for LRRC8D 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. 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
  3. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R … Patapoutian A (Cell 2016) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for LRRC8D gene in Mastermind

Products for LRRC8D Gene

Sources for LRRC8D Gene