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Aliases for LRRC8A Gene

Aliases for LRRC8A Gene

  • Leucine Rich Repeat Containing 8 VRAC Subunit A 2 3
  • Leucine Rich Repeat Containing 8 Family Member A 2 3 5
  • Leucine-Rich Repeat-Containing Protein 8A 3 4
  • Swelling Protein 1 3 4
  • SWELL1 3 4
  • LRRC8 3 4
  • Volume-Regulated Anion Channel Subunit LRRC8A 3
  • 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 VRAC Subunit A) is a Protein Coding gene. Diseases associated with LRRC8A include Agammaglobulinemia 5 and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Neuroscience. GO annotations related to this gene include anion channel activity. An important paralog of this gene is LRRC8B.

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

Additional gene information for LRRC8A Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H128909 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +30.1 30124 5 HDAC1 ELF3 PKNOX1 FOXA2 INSM2 ARID4B KLF17 RAD21 THRB ZBTB7B LRRC8A KYAT1 PHYHD1 DOLK NUP188 SPOUT1 LOC100506100 ZDHHC12 PKN3 GLE1
GH09H128549 1.7 Ensembl ENCODE dbSUPER 9.7 -327.3 -327318 10 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 CBX5 ZNF207 URM1 TOR2A MIGA2 KYAT1 LRRC8A ENSG00000273186 SPTAN1 ENSG00000280474
GH09H128844 1.4 Ensembl ENCODE dbSUPER 11.5 -36.2 -36232 2 HDGF PKNOX1 FOXA2 ARNT SIN3A TCF12 GATA2 FOS ATF7 NCOA1 SPOUT1 KYAT1 LRRC8A DOLK NUP188 TBC1D13 PHYHD1 LOC100506100 ZDHHC12 PKN3
GH09H128633 1.5 Ensembl ENCODE dbSUPER 10.2 -246.0 -246006 4 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF2 ZBTB7B YY1 SLC30A9 PKN3 ODF2 LOC100129352 ZDHHC12 LOC100506100 LOC101929270 RNU7-171P KYAT1 LRRC8A TBC1D13
GH09H128915 1.1 ENCODE dbSUPER 12 +34.9 34933 2 ELF3 FOXA2 MLX DMAP1 RAD21 RARA YY1 SLC30A9 CREM THAP11 KYAT1 LRRC8A NUP188 DOLK SPOUT1 LOC100506100 ZDHHC12 PKN3 LOC101929291 PHYHD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000241919 -12 2601 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK SP3

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

Post-translational modifications for LRRC8A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LRRC8A (LRRC8A)
  • Santa Cruz Biotechnology (SCBT) Antibodies for LRRC8A

No data available for DME Specific Peptides for LRRC8A Gene

Domains & Families for LRRC8A Gene

Gene Families for LRRC8A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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.
Family:
  • Belongs to the LRRC8 family.
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).

Phenotypes From GWAS Catalog for LRRC8A Gene

Gene Ontology (GO) - Molecular Function for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005225 volume-sensitive anion channel activity TAS --
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

Human Phenotype Ontology for LRRC8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRRC8A Gene

MGI Knock Outs for LRRC8A:

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC8A

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC8A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC8A gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LRRC8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 14660746
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRRC8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRRC8A Gene

Pathways & Interactions for LRRC8A Gene

SuperPathways for LRRC8A Gene

SuperPathway Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with LRRC8A: view

Pathways by source for LRRC8A Gene

1 Cell Signaling Technology pathway 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006820 anion transport IMP 24725410
GO:0006884 cell volume homeostasis IMP 24725410
genes like me logo Genes that share ontologies with LRRC8A: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LRRC8A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LRRC8A Gene



Protein tissue co-expression partners for LRRC8A Gene

NURSA nuclear receptor signaling pathways regulating expression of LRRC8A Gene:

LRRC8A

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.

Evidence on tissue expression from TISSUES for LRRC8A Gene

  • Nervous system(4.8)
  • Lung(4.2)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC8A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LRRC8A: view

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
chimpanzee
(Pan troglodytes)
Mammalia LRRC8A 33 34
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia LLRC8A 34
  • 99 (a)
OneToOne
LRRC8A 33
  • 94.24 (n)
mouse
(Mus musculus)
Mammalia LRRC8A 34
  • 99 (a)
OneToMany
Lrrc8a 33 16 34
  • 92.92 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC8A 34
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc8a 33
  • 92.67 (n)
dog
(Canis familiaris)
Mammalia LRRC8A 33 34
  • 92.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC8A 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC8A 33 34
  • 81.19 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC8A 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc8a 33
  • 79.89 (n)
zebrafish
(Danio rerio)
Actinopterygii LRRC8A (2 of 2) 34
  • 87 (a)
OneToMany
lrrc8a 33 34
  • 79.99 (n)
Species where no ortholog for LRRC8A was found in the sources mined by GeneCards:
  • 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

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
rs1000023948 -- 128,889,378(+) CGGAC(A/G)CCATT intron-variant
rs1000081263 -- 128,912,647(+) TTACC(A/G)AATTC intron-variant
rs1000181240 -- 128,913,882(+) AGGAT(A/G)CACAG intron-variant
rs1000242541 -- 128,917,351(+) CCTCC(A/G)TGTGT upstream-variant-2KB, utr-variant-3-prime
rs1000249576 -- 128,895,949(+) TTTGT(C/G)AGACT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3621819 CNV gain 21293372

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, 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 60
  2. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. (PMID: 14660746) Sawada A … Hara J (The Journal of clinical investigation 2003) 3 4 22 60
  3. LRRC8 Proteins Form Volume-Regulated Anion Channels that Sense Ionic Strength. (PMID: 26824658) Syeda R … Patapoutian A (Cell 2016) 3 4 60
  4. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. (PMID: 24790029) Voss FK … Jentsch TJ (Science (New York, N.Y.) 2014) 3 4 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for LRRC8A Gene

Sources for LRRC8A Gene

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