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Aliases for LRRC8D Gene

Aliases for LRRC8D Gene

  • Leucine Rich Repeat Containing 8 Family, Member D 2 3
  • LRRC5 3 4 6
  • Leucine-Rich Repeat-Containing Protein 8D 3 4
  • Leucine-Rich Repeat-Containing Protein 5 3 4
  • Leucine Rich Repeat Containing 5 2 3
  • Volume-Regulated Anion Channel Subunit LRRC8D 3
  • 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 MFHAS1.

UniProtKB/Swiss-Prot for LRRC8D Gene

  • 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. It is unclear whether LRRC8D constitutes a pore-forming subunit or whether it is closely associated with the pore (By similarity). Mediates the import of the antibiotic blasticidin-S into 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRRC8D Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    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 Thr68, Thr76, Thr77, Thr114, Thr118, Asn255, Asn598, Asn605, and Asn740
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRRC8D Gene

Domains 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 :
  • Q7L1W4
Family:
  • Belongs to the LRRC8 family.
Similarity:
  • Contains 13 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC8D: view

No data available for Gene Families for LRRC8D Gene

Function for LRRC8D Gene

Molecular function for LRRC8D Gene

UniProtKB/Swiss-Prot Function: 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. It is unclear whether LRRC8D constitutes a pore-forming subunit or whether it is closely associated with the pore (By similarity). Mediates the import of the antibiotic blasticidin-S into cell (PubMed:24782309).

Gene Ontology (GO) - Molecular Function for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8D: view

Phenotypes for LRRC8D Gene

GenomeRNAi human phenotypes for LRRC8D:
genes like me logo Genes that share phenotypes with LRRC8D: view

Animal Model Products

CRISPR Products

miRNA for LRRC8D Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRC8D

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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; Multi-pass membrane protein. Note=Mainly localizes in the endoplasmic reticulum. {ECO:0000269 PubMed:24782309}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC8D Gene COMPARTMENTS Subcellular localization image for LRRC8D gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRRC8D: view

Pathways for LRRC8D Gene

SuperPathways for LRRC8D Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with LRRC8D: view

No data available for Pathways by source for LRRC8D Gene

Transcripts for LRRC8D Gene

Unigene Clusters for LRRC8D Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRC8D

Primer Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
LRRC8D

Expression for LRRC8D Gene

mRNA expression in normal human tissues for LRRC8D Gene

Integrated Proteomics: protein expression 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 expressions with LRRC8D: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.49 (n)
  • 99.42 (a)
LRRC8D 36
  • 99 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8D 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8d 35
  • 86.4 (n)
  • 96.04 (a)
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

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

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 MAF
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
rs1344058 -- 89,906,108(+) CTGGT(A/G)TTTTA 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

Relevant External Links for LRRC8D Gene

HapMap Linkage Disequilibrium report
LRRC8D

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

Disorders for LRRC8D Gene

Relevant External Links for LRRC8D

Genetic Association Database (GAD)
LRRC8D
Human Genome Epidemiology (HuGE) Navigator
LRRC8D
genes like me logo Genes that share disorders with LRRC8D: view

No data available for UniProtKB/Swiss-Prot for LRRC8D Gene

Publications for LRRC8D Gene

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. 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
  5. 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

Products for LRRC8D Gene

  • antibodies-online proteins for LRRC8D
  • antibodies-online antibodies for LRRC8D
  • antibodies-online kits for LRRC8D

Sources for LRRC8D Gene

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