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Aliases for LRRC8C Gene

Aliases for LRRC8C Gene

  • Leucine Rich Repeat Containing 8 Family, Member C 2 3
  • FAD158 3 4 6
  • AD158 3 4 6
  • Leucine-Rich Repeat-Containing Protein 8C 3 4
  • Factor For Adipocyte Differentiation 158 3 4
  • Hypothetical Protein AD158 2 3
  • Volume-Regulated Anion Channel Subunit LRRC8C 3
  • Leucine Rich Repeat Containing 8C 3

External Ids for LRRC8C Gene

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 MFHAS1.

UniProtKB/Swiss-Prot for LRRC8C 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 LRRC8C constitutes a pore-forming subunit or whether it is closely associated with the pore. May play a role in adipogenesis (By similarity).

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

Genomic Location for LRRC8C Gene

Start:
89,633,072 bp from pter
End:
89,769,903 bp from pter
Size:
136,832 bases
Orientation:
Plus strand

Genomic View for LRRC8C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRC8C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8C Gene

Regulatory Elements 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

neXtProt entry for LRRC8C Gene

Proteomics data for LRRC8C Gene at MOPED

Post-translational modifications for LRRC8C Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys219, Lys401, and Lys499
  • Glycosylation at Asn70, Asn194, Asn305, Asn552, and Asn590

Other Protein References for LRRC8C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC8C Gene

Domains for LRRC8C Gene

Protein Domains for LRRC8C Gene

UniProtKB/Swiss-Prot:

LRC8C_HUMAN
Family:
  • Belongs to the LRRC8 family.:
    • Q8TDW0
Similarity:
  • Contains 17 LRR (leucine-rich) repeats.:
    • Q8TDW0
genes like me logo Genes that share domains with LRRC8C: view

No data available for Gene Families for LRRC8C Gene

Function for LRRC8C Gene

Molecular function for LRRC8C 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 LRRC8C constitutes a pore-forming subunit or whether it is closely associated with the pore. May play a role in adipogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for LRRC8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8C: view

miRNA for LRRC8C Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC8C Gene COMPARTMENTS Subcellular localization image for LRRC8C gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1
peroxisome 1

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

Pathways for LRRC8C Gene

SuperPathways for LRRC8C Gene

No Data Available

Interacting Proteins for LRRC8C Gene

Gene Ontology (GO) - Biological Process for LRRC8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0045444 fat cell differentiation IEA --
genes like me logo Genes that share ontologies with LRRC8C: view

No data available for Pathways by source for LRRC8C Gene

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

Integrated Proteomics: protein expression 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 expressions with LRRC8C: view

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 36
  • 99.88 (n)
  • 100 (a)
LRRC8C 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC8C 36
  • 92.53 (n)
  • 99 (a)
LRRC8C 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC8C 36
  • 90.99 (n)
  • 99.13 (a)
LRRC8C 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8c 36
  • 87.13 (n)
  • 97.51 (a)
Lrrc8c 16
Lrrc8c 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC8C 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8C 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8c 36
  • 86.34 (n)
  • 98.13 (a)
chicken
(Gallus gallus)
Aves LRRC8C 36
  • 80.01 (n)
  • 90.4 (a)
LRRC8C 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC8C 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8c 36
  • 75.46 (n)
  • 84.67 (a)
Str.11483 36
zebrafish
(Danio rerio)
Actinopterygii lrrc8c 36
  • 72.43 (n)
  • 80.03 (a)
lrrc8c 37
  • 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

Selected 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 MAF
rs474536 - 89,713,184(+) AGAAG(A/G)CAGCC reference, missense
rs1317864 -- 89,639,889(+) GGGAC(A/G)TTAAG intron-variant
rs1320562 -- 89,709,203(-) TCCAC(C/G)ACTCC intron-variant
rs1320563 -- 89,655,473(+) TCTGT(A/G)TCTTC intron-variant
rs1343778 -- 89,693,033(+) GGGAC(A/C)TGCCT 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

Relevant External Links for LRRC8C Gene

HapMap Linkage Disequilibrium report
LRRC8C

Disorders for LRRC8C Gene

Relevant External Links for LRRC8C

Genetic Association Database (GAD)
LRRC8C
Human Genome Epidemiology (HuGE) Navigator
LRRC8C
genes like me logo Genes that share disorders with LRRC8C: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  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 LRRC8C Gene

Sources for LRRC8C Gene

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