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

Gene ID: 84230, updated on 1-Jun-2020

Summary

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
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
Expression
Ubiquitous expression in fat (RPKM 7.4), lymph node (RPKM 5.7) and 24 other tissues See more
Orthologs

Genomic context

See LRRC8C in Genome Data Viewer
Location:
1p22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (89615810..89719533)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (90098644..90185094)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378844 Neighboring gene leucine rich repeat containing 8 VRAC subunit B Neighboring gene Sharpr-MPRA regulatory region 5460 Neighboring gene LRRC8C divergent transcript Neighboring gene NDUFA4 mitochondrial complex associated pseudogene Neighboring gene uncharacterized LOC107985743 Neighboring gene uncharacterized LOC101927952 Neighboring gene uncharacterized LOC107985744

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138551, DKFZp586J1119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
volume-sensitive anion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
anion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
anion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to osmotic stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
protein hexamerization ISS
Inferred from Sequence or Structural Similarity
more info
 
taurine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
taurine transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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_032270.5NP_115646.3  volume-regulated anion channel subunit LRRC8C

    Status: VALIDATED

    Source sequence(s)
    AC093423, AC099569
    Consensus CDS
    CCDS725.1
    Related
    ENSP00000359483.4, ENST00000370454.9
    Conserved Domains (4) summary
    COG4886
    Location:528775
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:446468
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:469492
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1338
    Pannexin_like; Pannexin-like TM region of LRRC8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    89615810..89719533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542282.2XP_011540584.1  volume-regulated anion channel subunit LRRC8C isoform X2

    See identical proteins and their annotated locations for XP_011540584.1

    UniProtKB/Swiss-Prot
    Q8TDW0
    Conserved Domains (4) summary
    COG4886
    Location:528775
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:446468
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:469492
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1338
    Pannexin_like; Pannexin-like TM region of LRRC8
  2. XM_017002503.2XP_016857992.1  volume-regulated anion channel subunit LRRC8C isoform X2

    UniProtKB/Swiss-Prot
    Q8TDW0
    Conserved Domains (4) summary
    COG4886
    Location:528775
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00031
    Location:446468
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:469492
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:1338
    Pannexin_like; Pannexin-like TM region of LRRC8
  3. XM_017002504.1XP_016857993.1  volume-regulated anion channel subunit LRRC8C isoform X4

  4. XM_011542283.2XP_011540585.1  volume-regulated anion channel subunit LRRC8C isoform X3

    Conserved Domains (4) summary
    sd00031
    Location:421443
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:444467
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:6313
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:612670
    LRR_8; Leucine rich repeat
  5. XM_006710960.4XP_006711023.1  volume-regulated anion channel subunit LRRC8C isoform X1

    Conserved Domains (4) summary
    sd00031
    Location:451473
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:474497
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12534
    Location:6343
    Pannexin_like; Pannexin-like TM region of LRRC8
    pfam13855
    Location:642700
    LRR_8; Leucine rich repeat
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