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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 Protein 8D 3 4
  • Leucine-Rich Repeat-Containing Protein 5 3 4
  • Leucine Rich Repeat Containing 5 2 3
  • LRRC5 3 4
  • Volume-Regulated Anion Channel Subunit LRRC8D 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 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
GH01F089870 0.2 ENCODE 17.9 +50.1 50126 1.1 SOX13 ATF1 SAP130 ARID4B RAD21 RARA TEAD3 RERE PRDM10 NR2F6 LRRC8D RN7SKP272 GEMIN8P4 ZNF326 GC01P089867 GC01M089909
GH01F089900 1 FANTOM5 Ensembl ENCODE 17.4 +85.8 85758 13.3 PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 CBX5 FOS REST KAT8 LRRC8D LRRC8C ZNF326 RN7SKP272 GEMIN8P4 PTGES3P1 LOC100130455 LRRC8B GC01M089909 GC01P089867
GH01F089841 1.2 FANTOM5 ENCODE 17.1 +22.3 22326 3.4 WRNIP1 SIN3A ZNF48 RAD21 ZBTB40 RFX5 YY1 ZNF143 ZNF207 ZNF263 LRRC8D ZNF326 RN7SKP272 GEMIN8P4 LOC101927975 LRRC8C GC01P089867
GH01F089854 1.5 FANTOM5 Ensembl ENCODE 15.7 +34.5 34523 2.8 TBL1XR1 MTA2 CBFB CEBPB JUNB TBX21 EP300 JUND IKZF1 TCF7 LRRC8D LRRC8C ZNF326 GC01P089867
GH01F089603 1.5 FANTOM5 Ensembl ENCODE 14.7 -213.3 -213343 8.9 GATA2 FOS JUNB TBX21 MEF2D PBX2 MXD3 NBN HMBOX1 HNF4A FLJ27354 LRRC8D ZNF326 GEMIN8P4 RN7SKP272 LRRC8C LRRC8B GBP7 GC01M089607 LOC105378845
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000165807 486 2601 HDGF ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 FOS ZNF548 SP3

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

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).

Gene Ontology (GO) - Molecular Function for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 volume-sensitive anion channel activity IMP 26824658
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 Model Products

  • Taconic Biosciences Mouse Models for LRRC8D

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005737 cytoplasm IDA 24790029
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA,IDA 24790029
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

SuperPathways for LRRC8D Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0044070 regulation of anion transport IEA --
GO:0098656 anion transmembrane transport IMP 24790029
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

Transcripts for LRRC8D Gene

Unigene Clusters for LRRC8D Gene

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

Inhibitory RNA 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

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, MaxQB, and MOPED for LRRC8D Gene



NURSA nuclear receptor signaling pathways regulating expression of LRRC8D Gene:

LRRC8D

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 , Protein tissue co-expression partners 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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia LRRC8D 34 35
  • 93.12 (n)
cow
(Bos Taurus)
Mammalia LRRC8D 34 35
  • 92.54 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc8d 34
  • 86.4 (n)
mouse
(Mus musculus)
Mammalia Lrrc8d 34 16 35
  • 86.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8D 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC8D 34 35
  • 81.4 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC8D 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8d 34
  • 75.15 (n)
zebrafish
(Danio rerio)
Actinopterygii lrrc8db 34 35
  • 72.1 (n)
Dr.19720 34
Species where no ortholog for LRRC8D 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)
  • 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
rs10158208 -- 89,874,452(+) gtgtg(A/T)gtgtg intron-variant
rs10493832 -- 89,860,076(-) ATCTG(A/G)CTTTT intron-variant
rs10544709 -- 89,826,246(+) CTTAA(-/ATTTT)ATTTT intron-variant
rs10556472 -- 89,835,074(+) GCCAG(-/CA)CTAGG intron-variant
rs10737712 -- 89,839,472(+) GAAAC(C/T)ATCTT intron-variant

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)

Relevant External Links 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

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 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. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64

Products for LRRC8D Gene

Sources for LRRC8D Gene

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