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Aliases for LRRC8A Gene

Aliases for LRRC8A Gene

  • Leucine Rich Repeat Containing 8 Family, Member A 2 3
  • Leucine-Rich Repeat-Containing Protein 8A 3 4
  • Swelling Protein 1 3 4
  • KIAA1437 4 6
  • SWELL1 3 4
  • LRRC8 3 4
  • AGM5 3 6
  • Volume-Regulated Anion Channel Subunit LRRC8A 3
  • Leucine Rich Repeat Containing 8 2

External Ids for LRRC8A Gene

Previous Symbols for LRRC8A Gene

  • LRRC8

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. An important paralog of this gene is MFHAS1.

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. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development.

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

Genomic Location for LRRC8A Gene

Start:
128,882,112 bp from pter
End:
128,918,039 bp from pter
Size:
35,928 bases
Orientation:
Plus strand

Genomic View for LRRC8A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRC8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC8A Gene

Regulatory Elements 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.
    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

  • N-glycosylated.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn83, Asn191, Asn526, Asn554, Asn592, Asn660, Asn696, and Asn755

Other Protein References for LRRC8A Gene

No data available for DME Specific Peptides for LRRC8A Gene

Domains for LRRC8A Gene

Protein Domains for LRRC8A Gene

UniProtKB/Swiss-Prot:

LRC8A_HUMAN
Family:
  • Belongs to the LRRC8 family.:
    • Q8IWT6
Similarity:
  • Contains 17 LRR (leucine-rich) repeats.:
    • Q8IWT6
genes like me logo Genes that share domains with LRRC8A: view

No data available for Gene Families for LRRC8A Gene

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. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development.

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
GO:0005515 protein binding IPI 24790029
genes like me logo Genes that share ontologies with LRRC8A: view
genes like me logo Genes that share phenotypes with LRRC8A: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC8A Gene COMPARTMENTS Subcellular localization image for LRRC8A gene
Compartment Confidence
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 24725410
GO:0009986 cell surface IDA 14660746
GO:0016020 membrane IDA 19946888
GO:0034702 ion channel complex IDA 24790029
genes like me logo Genes that share ontologies with LRRC8A: view

Pathways 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:0002329 pre-B cell differentiation ISS --
GO:0006820 anion transport IMP 24725410
GO:0006884 cell volume homeostasis IMP 24725410
GO:0006970 response to osmotic stress 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 for LRRC8A Gene

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

Integrated Proteomics: protein expression 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 expressions with LRRC8A: view

Orthologs for LRRC8A Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC8A 36
  • 99.51 (n)
  • 100 (a)
LRRC8A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LLRC8A 37
  • 99 (a)
OneToOne
LRRC8A 36
  • 94.24 (n)
  • 99.01 (a)
dog
(Canis familiaris)
Mammalia LRRC8A 36
  • 92.02 (n)
  • 98.89 (a)
LRRC8A 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc8a 36
  • 92.92 (n)
  • 99.01 (a)
Lrrc8a 16
Lrrc8a 37
  • 99 (a)
OneToMany
LRRC8A 37
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LRRC8A 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8A 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8a 36
  • 92.67 (n)
  • 98.64 (a)
chicken
(Gallus gallus)
Aves LOC100858917 36
  • 81.19 (n)
  • 94.94 (a)
LRRC8A 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC8A 37
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8a 36
  • 79.89 (n)
  • 90.48 (a)
zebrafish
(Danio rerio)
Actinopterygii lrrc8a 36
  • 79.99 (n)
  • 87.52 (a)
lrrc8a 37
  • 88 (a)
OneToMany
LRRC8A (2 of 2) 37
  • 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

Selected 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 MAF
rs9031 -- 128,917,613(+) CAGCC(C/T)TGTCA utr-variant-3-prime
rs941959 -- 128,898,608(-) GTGCC(A/G)AGGCC intron-variant
rs1058780 -- 128,916,938(+) GGGCT(C/T)TGCGG utr-variant-3-prime
rs1141652 -- 128,917,105(+) aaaaa(A/G)aaaaa utr-variant-3-prime
rs2146292 -- 128,905,029(+) ttagc(C/T)aggca intron-variant

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

Relevant External Links for LRRC8A Gene

HapMap Linkage Disequilibrium report
LRRC8A
Human Gene Mutation Database (HGMD)
LRRC8A
Locus Specific Mutation Databases (LSDB)
LRRC8A

Disorders for LRRC8A Gene

(1) OMIM Diseases for LRRC8A Gene (608360)

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.

(1) University of Copenhagen DISEASES for LRRC8A Gene

Relevant External Links for LRRC8A

Genetic Association Database (GAD)
LRRC8A
genes like me logo Genes that share disorders with LRRC8A: view

Publications for LRRC8A Gene

  1. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. (PMID: 14660746) Sawada A. … Hara J. (J. Clin. Invest. 2003) 3 4 23
  2. 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
  3. 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
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4

Products for LRRC8A Gene

Sources for LRRC8A Gene

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