LRRC8C Gene (Protein Coding)

Leucine Rich Repeat Containing 8 VRAC Subunit C

GC01P089615
GIFtS:
34
See more...

Aliases for LRRC8C Gene

Aliases for LRRC8C Gene

  • Leucine Rich Repeat Containing 8 VRAC Subunit C 2 3 5
  • AD158 2 3 4
  • Leucine Rich Repeat Containing 8 Family Member C 2 3
  • Volume-Regulated Anion Channel Subunit LRRC8C 3 4
  • Leucine-Rich Repeat-Containing Protein 8C 3 4
  • Factor For Adipocyte Differentiation 158 3 4
  • Hypothetical Protein AD158 2 3
  • FAD158 3 4
  • Leucine Rich Repeat Containing 8C 3
  • LRRC8C 5

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 VRAC Subunit C) is a Protein Coding gene. Diseases associated with LRRC8C include Hereditary Lymphedema I and Hereditary Lymphedema. An important paralog of this gene is LRRC8E.

UniProtKB/Swiss-Prot Summary 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 can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.

Additional gene information for LRRC8C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC8C Gene

Genomics for LRRC8C Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LRRC8C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC8C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC8C

Top Transcription factor binding sites by QIAGEN in the LRRC8C gene promoter:
  • AML1a
  • CUTL1
  • ER-alpha
  • FOXD3
  • FOXO4
  • Max1
  • MZF-1
  • Pax-4a
  • Sox5

Genomic Locations for LRRC8C Gene

Latest Assembly
chr1:89,615,810-89,769,903
(GRCh38/hg38)
Size:
154,094 bases
Orientation:
Plus strand

Previous Assembly
chr1:90,098,679-90,185,092
(GRCh37/hg19 by Entrez Gene)
Size:
86,414 bases
Orientation:
Plus strand

chr1:90,098,631-90,235,462
(GRCh37/hg19 by Ensembl)
Size:
136,832 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 Structure • Gene Density

RefSeq DNA sequence for LRRC8C Gene

Proteins for LRRC8C Gene

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  • 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:
    • Heterohexamer (By similarity). Oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8B, LRRC8D and/or LRRC8E) to form a heterohexamer (Probable). Detected in a channel complex that contains LRRC8A, LRRC8C and LRRC8E (PubMed:28193731). 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

Protein Expression for LRRC8C Gene

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

Post-translational modifications for LRRC8C Gene

  • Glycosylation at Asn64 and Asn70
  • Ubiquitination at Lys219, Lys401, and Lys499
  • 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

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

Protein Domains for LRRC8C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC8C Gene

GenScript: Design optimal peptide antigens:
  • Factor for adipocyte differentiation 158 (LRC8C_HUMAN)
  • LRRC8C protein (Q4G0W7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDW0

UniProtKB/Swiss-Prot:

LRC8C_HUMAN :
  • Belongs to the LRRC8 family.
Family:
  • Belongs to the LRRC8 family.
genes like me logo Genes that share domains with LRRC8C: view

Function for LRRC8C Gene

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  1. Animal Models for research
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  6. Cell Lines for research

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 can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. 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 From GWAS Catalog for LRRC8C Gene

Gene Ontology (GO) - Molecular Function for LRRC8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 contributes_to volume-sensitive anion channel activity IEA,ISS --
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8C: view
genes like me logo Genes that share phenotypes with LRRC8C: view

Animal Models for LRRC8C Gene

MGI Knock Outs for LRRC8C:

Animal Models for research

miRNA for LRRC8C Gene

miRTarBase miRNAs that target LRRC8C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 LRRC8C gene
Compartment Confidence
plasma membrane 5
golgi apparatus 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRC8C 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 IEA,ISS --
genes like me logo Genes that share ontologies with LRRC8C: view

Pathways & Interactions for LRRC8C Gene

PathCards logo

SuperPathways for LRRC8C Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015734 taurine transport IEA --
GO:0015810 aspartate transmembrane transport IEA --
GO:0034214 protein hexamerization ISS --
genes like me logo Genes that share ontologies with LRRC8C: view

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

Drugs & Compounds for LRRC8C Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for LRRC8C Gene

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mRNA/cDNA for LRRC8C Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC8C

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

No ASD Table

Relevant External Links for LRRC8C Gene

GeneLoc Exon Structure for
LRRC8C

Expression for LRRC8C Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC8C Gene

mRNA expression in normal human tissues for LRRC8C Gene
mRNA expression by GTEx 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, MaxQB, and MOPED for LRRC8C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC8C

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.

Evidence on tissue expression from TISSUES for LRRC8C Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with LRRC8C: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia LRRC8C 30 31
  • 99.88 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LRRC8C 31
  • 93 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LRRC8C 30 31
  • 92.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LRRC8C 30 31
  • 90.99 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lrrc8c 30 17 31
  • 87.13 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lrrc8c 30
  • 86.34 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LRRC8C 31
  • 86 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LRRC8C 30 31
  • 80.01 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LRRC8C 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lrrc8c 30
  • 75.46 (n)
Str.11483 30
Zebrafish
(Danio rerio)
 Actinopterygii lrrc8c 30 31
  • 72.43 (n)
 OneToOne
Species where no ortholog for LRRC8C 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)
  • 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 LRRC8C Gene

ENSEMBL:
Gene Tree for LRRC8C (if available)
TreeFam:
Gene Tree for LRRC8C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC8C: view image

Paralogs for LRRC8C Gene

Paralogs for LRRC8C Gene

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

  • LRC8C_HUMAN
  • E9PHY6_HUMAN
  • Q4G0W7_HUMAN
genes like me logo Genes that share paralogs with LRRC8C: view

Variants for LRRC8C Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC8C Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs112191990 Likely Benign: not provided 89,686,482(+) C/T
NM_032270.5(LRRC8C):c.9C>T (p.Pro3=) 		SYNONYMOUS
rs139429089 Benign: not provided 89,714,284(+) A/G
NM_032270.5(LRRC8C):c.1714A>G (p.Ile572Val) 		MISSENSE
rs34576461 Benign: not provided 89,713,911(+) A/G
NM_032270.5(LRRC8C):c.1341A>G (p.Gln447=) 		SYNONYMOUS
rs12032393 - p.Asn468Ser
rs12036569 - p.Met800Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRRC8C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv21711 CNV loss 19812545
esv2430347 CNV deletion 19546169
esv25406 CNV loss 19812545
esv2674468 CNV deletion 23128226
esv2676348 CNV deletion 23128226
esv3586765 CNV gain 21293372
esv3586769 CNV gain 21293372
esv3586771 CNV loss 21293372
esv3586772 CNV gain 21293372
nsv521773 CNV loss 19592680
nsv830559 CNV gain 17160897
nsv946063 CNV duplication 23825009

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)

Additional Variant Information for LRRC8C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC8C

SNP Genotyping and Copy Number Assays for research

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

Disorders for LRRC8C Gene

MalaCards: The human disease database

(2) MalaCards diseases for LRRC8C Gene - From: COP

Disorder Aliases PubMed IDs
hereditary lymphedema i
  • congenital primary lymphedema
hereditary lymphedema
  • milroy disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC8C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LRRC8C: view

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

Publications for LRRC8C 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. Toward 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 research 2001) 2 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  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 LRRC8C gene in Mastermind

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