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Aliases for LRRC8D Gene

Aliases for LRRC8D Gene

  • Leucine-Rich Repeat Containing 8 Family Member D 2 3 5
  • Leucine Rich Repeat Containing 8 Family, Member D 2 3
  • 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
  • Leucine-Rich Repeat-Containing 5 3

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 Family Member D) is a Protein Coding gene. An important paralog of this gene is LRRC8A.

UniProtKB/Swiss-Prot 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. 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 (PubMed:24790029, PubMed:26824658). 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC8D Gene

Genomics for LRRC8D Gene

Regulatory Elements for LRRC8D Gene

Enhancers for LRRC8D Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LRRC8D on UCSC Golden Path with GeneCards custom track

Promoters for LRRC8D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRRC8D on UCSC Golden Path with GeneCards custom track

Genomic Location for LRRC8D Gene

Chromosome:
1
Start:
89,821,014 bp from pter
End:
89,936,611 bp from pter
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 StructureGene Density

RefSeq DNA sequence for LRRC8D Gene

Proteins for LRRC8D Gene

  • 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:
    • Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8C 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=AAQ89233.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91631.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC8D Gene

Proteomics data for LRRC8D Gene at MOPED

Post-translational modifications for LRRC8D Gene

  • Glycosylation at Thr 77, Thr 114, and Thr 118
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRRC8D Gene

Domains & Families for LRRC8D Gene

Gene Families for LRRC8D Gene

Protein Domains for LRRC8D Gene

Suggested Antigen Peptide Sequences for LRRC8D Gene

Graphical View of Domain Structure for InterPro Entry

Q7L1W4

UniProtKB/Swiss-Prot:

LRC8D_HUMAN :
  • Belongs to the LRRC8 family.
  • Contains 13 LRR (leucine-rich) repeats.
Family:
  • Belongs to the LRRC8 family.
Similarity:
  • Contains 13 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC8D: view

Function for LRRC8D Gene

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. 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 (PubMed:24790029, PubMed:26824658). 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).
genes like me logo Genes that share phenotypes with LRRC8D: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC8D

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for LRRC8D Gene COMPARTMENTS Subcellular localization image for LRRC8D gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
nucleus 3
mitochondrion 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane IMP 26824658
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LRRC8D: view

Pathways & Interactions for LRRC8D Gene

SuperPathways for LRRC8D Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8D Gene

None

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

Drugs & Compounds for LRRC8D Gene

No Compound Related Data Available

Transcripts for LRRC8D Gene

Unigene Clusters for LRRC8D Gene

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

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
ECgene alternative splicing isoforms for
LRRC8D

Expression for LRRC8D Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for LRRC8D Gene



SOURCE GeneReport for Unigene cluster for LRRC8D Gene Hs.482087

genes like me logo Genes that share expression patterns with LRRC8D: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia LRRC8D 35
  • 92.54 (n)
  • 97.09 (a)
LRRC8D 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC8D 35
  • 93.12 (n)
  • 97.2 (a)
LRRC8D 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8d 35
  • 86.36 (n)
  • 96.04 (a)
Lrrc8d 16
Lrrc8d 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRC8D 35
  • 99.49 (n)
  • 99.42 (a)
LRRC8D 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8d 35
  • 86.4 (n)
  • 96.04 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8D 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC8D 35
  • 81.4 (n)
  • 89.45 (a)
LRRC8D 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC8D 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8d 35
  • 75.15 (n)
  • 83.24 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19720 35
lrrc8db 35
  • 72.1 (n)
  • 80.22 (a)
lrrc8db 36
  • 79 (a)
OneToOne
Species with no ortholog for LRRC8D:
  • 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)
  • 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 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 LRRC8D Gene

ENSEMBL:
Gene Tree for LRRC8D (if available)
TreeFam:
Gene Tree for LRRC8D (if available)

Paralogs for LRRC8D Gene

genes like me logo Genes that share paralogs with LRRC8D: view

Variants for LRRC8D Gene

Sequence variations from dbSNP and Humsavar for LRRC8D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11552246 - 89,934,180(+) CATAT(A/C)CATTA reference, missense
rs11662 -- 89,935,846(-) AAAAA(C/T)GATTT utr-variant-3-prime
rs1215651 -- 89,820,431(+) TAAAA(A/G)CAAGA upstream-variant-2KB
rs1343710 -- 89,830,022(-) AAACA(C/T)TTGTT intron-variant
rs1343722 -- 89,835,727(-) TAACC(C/G)TAGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1832 CNV Loss 18451855
esv273544 CNV Insertion 20981092
esv267816 CNV Insertion 20981092

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for LRRC8D Gene

Disorders for LRRC8D Gene

Relevant External Links for LRRC8D

Genetic Association Database (GAD)
LRRC8D
Human Genome Epidemiology (HuGE) Navigator
LRRC8D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC8D

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. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R. … Patapoutian A. (Cell 2016) 3 4 67
  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
  3. Protein array based interactome analysis of amyloid-I^ indicates an inhibition of protein translation. (PMID: 21244100) Virok D.P. … FA1lAPp L. (J. Proteome Res. 2011) 3
  4. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PMID: 21555518) Warnatz H.J. … Yaspo M.L. (J. Biol. Chem. 2011) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for LRRC8D Gene

Sources for LRRC8D Gene

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