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Aliases for LRRC8A Gene

Aliases for LRRC8A Gene

  • Leucine-Rich Repeat Containing 8 Family Member A 2 3 5
  • Leucine Rich Repeat Containing 8 Family, Member A 2 3
  • Leucine-Rich Repeat-Containing Protein 8A 3 4
  • Swelling Protein 1 3 4
  • SWELL1 3 4
  • LRRC8 3 4
  • Leucine Rich Repeat Containing 8 2
  • KIAA1437 4
  • AGM5 3

External Ids for LRRC8A Gene

Previous HGNC Symbols for LRRC8A Gene

  • LRRC8

Previous GeneCards Identifiers for LRRC8A Gene

  • GC09P128728
  • GC09P130684
  • GC09P131644
  • GC09P101252

Summaries for LRRC8A Gene

Entrez Gene Summary for LRRC8A Gene

  • This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for LRRC8A Gene

LRRC8A (Leucine-Rich Repeat Containing 8 Family Member A) is a Protein Coding gene. Diseases associated with LRRC8A include Agammaglobulinemia 5 and Agammaglobulinemia, Non-Bruton Type. GO annotations related to this gene include anion channel activity. An important paralog of this gene is LRRC8D.

UniProtKB/Swiss-Prot for LRRC8A Gene

  • 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 (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).

Gene Wiki entry for LRRC8A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC8A Gene

Genomics for LRRC8A Gene

Regulatory Elements for LRRC8A Gene

Enhancers for LRRC8A 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 LRRC8A on UCSC Golden Path with GeneCards custom track

Promoters for LRRC8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRRC8A on UCSC Golden Path with GeneCards custom track

Genomic Location for LRRC8A Gene

Chromosome:
9
Start:
128,882,112 bp from pter
End:
128,918,042 bp from pter
Size:
35,931 bases
Orientation:
Plus strand

Genomic View for LRRC8A Gene

Genes around LRRC8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8A Gene

Proteins for LRRC8A Gene

  • Protein details for LRRC8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWT6-LRC8A_HUMAN
    Recommended name:
    Volume-regulated anion channel subunit LRRC8A
    Protein Accession:
    Q8IWT6
    Secondary Accessions:
    • Q6UXM2
    • Q8NCI0
    • Q9P2B1

    Protein attributes for LRRC8A Gene

    Size:
    810 amino acids
    Molecular mass:
    94199 Da
    Quaternary structure:
    • Heterooligomer; heterooligomerizes with other LRRC8 proteins (LRRC8B, LRRC8C, LRRC8D and/or LRRC8E), possibly to form a heterohexamer (PubMed:24782309, 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).
    SequenceCaution:
    • Sequence=AAQ88653.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92675.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11161.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC8A Gene

Proteomics data for LRRC8A Gene at MOPED

Post-translational modifications for LRRC8A Gene

Other Protein References for LRRC8A Gene

No data available for DME Specific Peptides for LRRC8A Gene

Domains & Families for LRRC8A Gene

Gene Families for LRRC8A Gene

Protein Domains for LRRC8A Gene

Suggested Antigen Peptide Sequences for LRRC8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWT6

UniProtKB/Swiss-Prot:

LRC8A_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 LRRC8A: view

Function for LRRC8A Gene

Molecular function for LRRC8A Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:24725410, PubMed:24790029, PubMed:26530471, PubMed:26824658). LRRC8A and LRRC8D are required for the uptake of the drug cisplatin (PubMed:26530471). Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658). Can form functional channels by itself (in vitro) (PubMed:26824658). Involved in B-cell development: required for the pro-B cell to pre-B cell transition (PubMed:14660746). Also required for T-cell development (By similarity).

Gene Ontology (GO) - Molecular Function for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005253 contributes_to anion channel activity IMP 24725410
genes like me logo Genes that share ontologies with LRRC8A: view
genes like me logo Genes that share phenotypes with LRRC8A: view

Human Phenotype Ontology for LRRC8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC8A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC8A Gene

Localization for LRRC8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC8A Gene

Cell membrane; Multi-pass membrane protein. Note=The leucine-rich repeat (LRR) domain is on the cytoplasmic side of the cell membrane. {ECO:0000269 PubMed:24782309}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC8A Gene COMPARTMENTS Subcellular localization image for LRRC8A gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LRRC8A: view

Pathways & Interactions for LRRC8A Gene

SuperPathways for LRRC8A Gene

No Data Available

Interacting Proteins for LRRC8A Gene

Gene Ontology (GO) - Biological Process for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006820 anion transport IMP 24725410
GO:0098656 anion transmembrane transport IMP 24725410
genes like me logo Genes that share ontologies with LRRC8A: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC8A Gene

Drugs & Compounds for LRRC8A Gene

No Compound Related Data Available

Transcripts for LRRC8A Gene

Unigene Clusters for LRRC8A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC8A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b
SP1: - - -
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6:

Relevant External Links for LRRC8A Gene

GeneLoc Exon Structure for
LRRC8A
ECgene alternative splicing isoforms for
LRRC8A

Expression for LRRC8A Gene

mRNA expression in normal human tissues for LRRC8A Gene

Protein differential expression in normal tissues from HIPED for LRRC8A Gene

This gene is overexpressed in Frontal cortex (20.7), Lung (14.8), and Spinal cord (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRRC8A Gene



SOURCE GeneReport for Unigene cluster for LRRC8A Gene Hs.643600

mRNA Expression by UniProt/SwissProt for LRRC8A Gene

Q8IWT6-LRC8A_HUMAN
Tissue specificity: Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.
genes like me logo Genes that share expression patterns with LRRC8A: view

Protein tissue co-expression partners for LRRC8A Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LRRC8A Gene

Orthologs for LRRC8A Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRRC8A 35
  • 94.24 (n)
  • 99.01 (a)
LLRC8A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC8A 35
  • 92.02 (n)
  • 98.89 (a)
LRRC8A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8a 35
  • 92.92 (n)
  • 99.01 (a)
Lrrc8a 16
Lrrc8a 36
  • 99 (a)
OneToMany
LRRC8A 36
  • 99 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LRRC8A 35
  • 99.51 (n)
  • 100 (a)
LRRC8A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8a 35
  • 92.67 (n)
  • 98.64 (a)
oppossum
(Monodelphis domestica)
Mammalia LRRC8A 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8A 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858917 35
  • 81.19 (n)
  • 94.94 (a)
LRRC8A 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC8A 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8a 35
  • 79.89 (n)
  • 90.48 (a)
zebrafish
(Danio rerio)
Actinopterygii lrrc8a 35
  • 79.99 (n)
  • 87.52 (a)
lrrc8a 36
  • 88 (a)
OneToMany
LRRC8A (2 of 2) 36
  • 87 (a)
OneToMany
Species with no ortholog for LRRC8A:
  • 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 LRRC8A Gene

ENSEMBL:
Gene Tree for LRRC8A (if available)
TreeFam:
Gene Tree for LRRC8A (if available)

Paralogs for LRRC8A Gene

(6) SIMAP similar genes for LRRC8A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LRRC8A: view

Variants for LRRC8A Gene

Sequence variations from dbSNP and Humsavar for LRRC8A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs941959 -- 128,898,608(-) GTGCC(A/G)AGGCC intron-variant
rs7860319 -- 128,907,146(+) TATGG(C/T)TCCCT intron-variant
rs113007253 -- 128,895,712(+) AGGGT(C/G)CTCAG intron-variant
rs113017554 -- 128,908,761(+) ACAAC(C/G/T)GCTAC reference, missense
rs113017665 -- 128,891,702(+) TCTGA(A/G)TATGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LRRC8A Gene

Variant ID Type Subtype PubMed ID
nsv893902 CNV Gain 21882294
dgv8296n71 CNV Loss 21882294
dgv8297n71 CNV Loss 21882294

Variation tolerance for LRRC8A Gene

Residual Variation Intolerance Score: 4.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC8A Gene

Human Gene Mutation Database (HGMD)
LRRC8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC8A Gene

Disorders for LRRC8A Gene

MalaCards: The human disease database

(3) MalaCards diseases for LRRC8A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 5
  • agammaglobulinemia 5, autosomal dominant
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
agammaglobulinemia
  • hypogammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LRC8A_HUMAN
  • Agammaglobulinemia 5, autosomal dominant (AGM5) [MIM:613506]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269 PubMed:14660746}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

Relevant External Links for LRRC8A

Genetic Association Database (GAD)
LRRC8A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRC8A
genes like me logo Genes that share disorders with LRRC8A: view

No data available for Genatlas for LRRC8A Gene

Publications for LRRC8A Gene

  1. SWELL1, a plasma membrane protein, is an essential component of volume-regulated anion channel. (PMID: 24725410) Qiu Z. … Patapoutian A. (Cell 2014) 2 3 4 67
  2. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. (PMID: 14660746) Sawada A. … Hara J. (J. Clin. Invest. 2003) 3 23
  3. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R. … Patapoutian A. (Cell 2016) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for LRRC8A Gene

Sources for LRRC8A Gene

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