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Aliases for LRRC8C Gene

Aliases for LRRC8C Gene

  • Leucine-Rich Repeat Containing 8 Family Member C 2 3 5
  • Leucine Rich Repeat Containing 8 Family, Member C 2 3
  • Leucine-Rich Repeat-Containing Protein 8C 3 4
  • Factor For Adipocyte Differentiation 158 3 4
  • Hypothetical Protein AD158 2 3
  • FAD158 3 4
  • AD158 3 4
  • Leucine Rich Repeat Containing 8C 3

External Ids for LRRC8C Gene

Previous GeneCards Identifiers for LRRC8C Gene

  • GC01P089811
  • GC01P089871
  • GC01P090098
  • GC01P088215
  • GC01P089635

Summaries for LRRC8C Gene

GeneCards Summary for LRRC8C Gene

LRRC8C (Leucine-Rich Repeat Containing 8 Family Member C) is a Protein Coding gene. An important paralog of this gene is LRRC8A.

UniProtKB/Swiss-Prot for LRRC8C 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC8C Gene

Genomics for LRRC8C Gene

Regulatory Elements for LRRC8C Gene

Enhancers for LRRC8C 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 LRRC8C on UCSC Golden Path with GeneCards custom track

Genomic Location for LRRC8C Gene

Chromosome:
1
Start:
89,615,873 bp from pter
End:
89,769,903 bp from pter
Size:
154,031 bases
Orientation:
Plus strand

Genomic View for LRRC8C Gene

Genes around LRRC8C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC8C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC8C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8C Gene

Proteins for LRRC8C Gene

  • Protein details for LRRC8C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDW0-LRC8C_HUMAN
    Recommended name:
    Volume-regulated anion channel subunit LRRC8C
    Protein Accession:
    Q8TDW0
    Secondary Accessions:
    • B3KXS9
    • Q29RV6
    • Q9H075

    Protein attributes for LRRC8C Gene

    Size:
    803 amino acids
    Molecular mass:
    92450 Da
    Quaternary structure:
    • Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8D 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).

neXtProt entry for LRRC8C Gene

Proteomics data for LRRC8C Gene at MOPED

Post-translational modifications for LRRC8C Gene

  • Ubiquitination at Lys 219, Lys 401, and Lys 499
  • Glycosylation at Asn 64 and Asn 70
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC8C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC8C Gene

Domains & Families for LRRC8C Gene

Gene Families for LRRC8C Gene

Protein Domains for LRRC8C Gene

Suggested Antigen Peptide Sequences for LRRC8C Gene

Graphical View of Domain Structure for InterPro Entry

Q8TDW0

UniProtKB/Swiss-Prot:

LRC8C_HUMAN :
  • Belongs to the LRRC8 family.
  • Contains 17 LRR (leucine-rich) repeats.
Family:
  • Belongs to the LRRC8 family.
Similarity:
  • Contains 17 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC8C: view

Function for LRRC8C Gene

Molecular function for LRRC8C 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.

Phenotypes for LRRC8C Gene

GenomeRNAi human phenotypes for LRRC8C:
genes like me logo Genes that share phenotypes with LRRC8C: view

Animal Model Products

miRNA for LRRC8C Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC8C Gene

Localization for LRRC8C Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC8C 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
Jensen Localization Image for LRRC8C Gene COMPARTMENTS Subcellular localization image for LRRC8C gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8C 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 LRRC8C: view

Pathways & Interactions for LRRC8C Gene

SuperPathways for LRRC8C Gene

No Data Available

Interacting Proteins for LRRC8C Gene

Gene Ontology (GO) - Biological Process for LRRC8C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LRRC8C Gene

Drugs & Compounds for LRRC8C Gene

No Compound Related Data Available

Transcripts for LRRC8C Gene

Unigene Clusters for LRRC8C Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8C Gene

No ASD Table

Relevant External Links for LRRC8C Gene

GeneLoc Exon Structure for
LRRC8C
ECgene alternative splicing isoforms for
LRRC8C

Expression for LRRC8C Gene

mRNA expression in normal human tissues for LRRC8C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRRC8C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.2), Lung (15.0), CD8 Tcells (7.2), and Monocytes (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRRC8C Gene



SOURCE GeneReport for Unigene cluster for LRRC8C Gene Hs.412836

mRNA Expression by UniProt/SwissProt for LRRC8C Gene

Q8TDW0-LRC8C_HUMAN
Tissue specificity: Expressed at highest levels in skeletal muscle, and at moderate levels in heart, lung and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with LRRC8C: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for LRRC8C Gene

Orthologs for LRRC8C Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRRC8C 35
  • 92.53 (n)
  • 99 (a)
LRRC8C 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC8C 35
  • 90.99 (n)
  • 99.13 (a)
LRRC8C 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8c 35
  • 87.13 (n)
  • 97.51 (a)
Lrrc8c 16
Lrrc8c 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRC8C 35
  • 99.88 (n)
  • 100 (a)
LRRC8C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8c 35
  • 86.34 (n)
  • 98.13 (a)
oppossum
(Monodelphis domestica)
Mammalia LRRC8C 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8C 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC8C 35
  • 80.01 (n)
  • 90.4 (a)
LRRC8C 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC8C 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8c 35
  • 75.46 (n)
  • 84.67 (a)
Str.11483 35
zebrafish
(Danio rerio)
Actinopterygii lrrc8c 35
  • 72.43 (n)
  • 80.03 (a)
lrrc8c 36
  • 79 (a)
OneToOne
Species with no ortholog for LRRC8C:
  • 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)
  • 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 LRRC8C Gene

ENSEMBL:
Gene Tree for LRRC8C (if available)
TreeFam:
Gene Tree for LRRC8C (if available)

Paralogs for LRRC8C Gene

(9) SIMAP similar genes for LRRC8C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LRRC8C: view

Variants for LRRC8C Gene

Sequence variations from dbSNP and Humsavar for LRRC8C Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs474536 - 89,713,184(+) AGAAG(A/G)CAGCC reference, missense
rs12032393 - 89,713,973(+) AGACA(A/G)TCTTC reference, missense
rs12036569 - 89,714,970(+) CAAAT(A/G)AAAAC reference, missense
rs1215505 -- 89,623,738(-) GTGGC(A/G)ttttt intron-variant
rs1215506 -- 89,623,546(-) acggg(A/G)tttca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC8C Gene

Variant ID Type Subtype PubMed ID
nsv830559 CNV Gain 17160897
esv25406 CNV Loss 19812545
nsv521773 CNV Loss 19592680
esv2676348 CNV Deletion 23128226
esv2430347 CNV Deletion 19546169
esv2674468 CNV Deletion 23128226
esv21711 CNV Loss 19812545

Variation tolerance for LRRC8C Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.01; 80.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC8C Gene

HapMap Linkage Disequilibrium report
LRRC8C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC8C Gene

Disorders for LRRC8C Gene

Relevant External Links for LRRC8C

Genetic Association Database (GAD)
LRRC8C
Human Genome Epidemiology (HuGE) Navigator
LRRC8C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC8C

No disorders were found for LRRC8C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC8C Gene

Publications for LRRC8C Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 67
  2. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R. … Patapoutian A. (Cell 2016) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T. … Xu R. (Neurobiol. Aging 2014) 3
  5. 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

Products for LRRC8C Gene

Sources for LRRC8C Gene

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