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LRRC8C leucine rich repeat containing 8 VRAC subunit C [ Homo sapiens (human) ]

Gene ID: 84230, updated on 11-Apr-2024

Summary

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Official Symbol
LRRC8Cprovided by HGNC
Official Full Name
leucine rich repeat containing 8 VRAC subunit Cprovided by HGNC
Primary source
HGNC:HGNC:25075
See related
Ensembl:ENSG00000171488 MIM:612889; AllianceGenome:HGNC:25075
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AD158; FAD158
Summary
Enables volume-sensitive anion channel activity. Involved in cyclic-GMP-AMP transmembrane import across plasma membrane. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 7.4), lymph node (RPKM 5.7) and 24 other tissues See more
Orthologs
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Genomic context

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See LRRC8C in Genome Data Viewer
Location:
1p22.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89615824..89719533)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89459056..89562765)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (90098679..90185092)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 8 VRAC subunit B Neighboring gene uncharacterized LOC124904216 Neighboring gene uncharacterized LOC128092251 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:90063762-90064278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1296 Neighboring gene Sharpr-MPRA regulatory region 5460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1298 Neighboring gene LRRC8C divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1055 Neighboring gene NDUFA4 mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1299 Neighboring gene uncharacterized LOC107985743 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:90217723-90218330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:90228293-90228793 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. LRRC8A:C/E Heteromeric Channels Are Ubiquitous Transporters of cGAMP. Lahey LJ, et al. Mol Cell, 2020 Nov 19. PMID 33171122
  2. The novel gene fad158, having a transmembrane domain and leucine-rich repeat, stimulates adipocyte differentiation. Tominaga K, et al. J Biol Chem, 2004 Aug 13. PMID 15184384
  3. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. Kubota K, et al. FEBS Lett, 2004 Apr 23. PMID 15094057
  4. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. Syeda R, et al. Cell, 2016 Jan 28. PMID 26824658, Free PMC Article
  5. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. Voss FK, et al. Science, 2014 May 9. PMID 24790029

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. fad158 has a role in regulating adipocyte differentiation
    Title: The novel gene fad158, having a transmembrane domain and leucine-rich repeat, stimulates adipocyte differentiation.
  3. identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes
    Title: LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LRRC8C PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138551, DKFZp586J1119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables volume-sensitive anion channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to volume-sensitive anion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to osmotic stress IEA
Inferred from Electronic Annotation
more info
  
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cyclic-GMP-AMP transmembrane import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic anion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monoatomic anion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein hexamerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in taurine transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
part_of monoatomic ion channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of monoatomic ion channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
volume-regulated anion channel subunit LRRC8C
Names
factor for adipocyte differentiation 158
hypothetical protein AD158
leucine rich repeat containing 8 family member C
leucine rich repeat containing 8C
leucine-rich repeat-containing protein 8C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032270.5 → NP_115646.3  volume-regulated anion channel subunit LRRC8C

    Status: VALIDATED

    Source sequence(s)
    AC093423, AC099569
    Consensus CDS
    CCDS725.1
    UniProtKB/Swiss-Prot
    B3KXS9, Q29RV6, Q8TDW0, Q9H075
    Related
    ENSP00000359483.4, ENST00000370454.9
    Conserved Domains (4) summary
    COG4886
    Location:528 → 775
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:446 → 468
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:469 → 492
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1 → 338
    Pannexin_like; Pannexin-like TM region of LRRC8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    89615824..89719533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542282.3 → XP_011540584.1  volume-regulated anion channel subunit LRRC8C isoform X2

    See identical proteins and their annotated locations for XP_011540584.1

    UniProtKB/Swiss-Prot
    B3KXS9, Q29RV6, Q8TDW0, Q9H075
    Conserved Domains (4) summary
    COG4886
    Location:528 → 775
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:446 → 468
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:469 → 492
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1 → 338
    Pannexin_like; Pannexin-like TM region of LRRC8

  2. XM_047432040.1 → XP_047287996.1  volume-regulated anion channel subunit LRRC8C isoform X4

  3. XM_006710960.5 → XP_006711023.1  volume-regulated anion channel subunit LRRC8C isoform X1

    Conserved Domains (4) summary
    sd00031
    Location:451 → 473
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:474 → 497
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:6 → 343
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:642 → 700
    LRR_8; Leucine rich repeat

  4. XM_011542283.3 → XP_011540585.1  volume-regulated anion channel subunit LRRC8C isoform X3

    Conserved Domains (4) summary
    sd00031
    Location:421 → 443
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:444 → 467
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:6 → 313
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:612 → 670
    LRR_8; Leucine rich repeat

  5. XM_047432041.1 → XP_047287997.1  volume-regulated anion channel subunit LRRC8C isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    89459056..89562765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339133.1 → XP_054195108.1  volume-regulated anion channel subunit LRRC8C isoform X2

  2. XM_054339135.1 → XP_054195110.1  volume-regulated anion channel subunit LRRC8C isoform X4

  3. XM_054339132.1 → XP_054195107.1  volume-regulated anion channel subunit LRRC8C isoform X1

  4. XM_054339134.1 → XP_054195109.1  volume-regulated anion channel subunit LRRC8C isoform X3

  5. XM_054339136.1 → XP_054195111.1  volume-regulated anion channel subunit LRRC8C isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDW0.2 GenPept UniProtKB/Swiss-Prot:Q8TDW0

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