Gene Gene information from NCBI Gene database.
Entrez ID 56262
Gene name Leucine rich repeat containing 8 VRAC subunit A
Gene symbol LRRC8A
Synonyms (NCBI Gene)
AGM5HsLRRC8ALRRC8SWELL1
Chromosome 9
Chromosome location 9q34.11
Summary 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 fou
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT001358 hsa-miR-1-3p pSILAC 18668040
MIRT001358 hsa-miR-1-3p Microarray 15685193
MIRT016581 hsa-miR-193b-3p Microarray 20304954
MIRT018758 hsa-miR-335-5p Microarray 18185580
MIRT001358 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0001678 Process Intracellular glucose homeostasis ISS
GO:0002329 Process Pre-B cell differentiation IEA
GO:0002329 Process Pre-B cell differentiation ISS
GO:0005225 Function Volume-sensitive anion channel activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608360 19027 ENSG00000136802
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWT6
Protein name Volume-regulated anion channel subunit LRRC8A (Leucine-rich repeat-containing protein 8A) (HsLRRC8A) (Swelling protein 1)
Protein 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 (PubMed:24725410, PubMed:24790
PDB 5ZSU , 6DJB , 7XZH , 8DXN , 8DXO , 8DXP , 8DXQ , 8DXR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12534 Pannexin_like 1 340 Pannexin-like TM region of LRRC8 Family
PF13855 LRR_8 591 651 Leucine rich repeat Repeat
PF13855 LRR_8 659 706 Leucine rich repeat Repeat
PF13855 LRR_8 708 766 Leucine rich repeat Repeat
Tissue specificity 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. {ECO:000026
Sequence
MIPVTELRYFADTQPAYRILKPWWDVFTDYISIVMLMIAVFGGTLQVTQDKMICLPCKWV
TKDSCNDSFRGWAAPGPEPTYPNSTILPTPDTGPTGIKYDLDRHQYNYVDAVCYENRLHW
FAKYFPYLVLLHTLIFLACSNFWFKFPRTSSKLEHFVSILLKCFDSPWTTRALSETVVEE
SDPKPAFSKMNGSMDKKSSTVSEDVEATVPMLQRTKSRIEQGIVDRSETGVLDKKEGEQA
KALFEKVKKFRTHVEEGDIVYRLYMRQTIIKVIKFILIICYTVYYVHNIKFDVDCTVDIE
SLTGYRTYRCAHPLATLFKILASFYISLVIFYGLICMYTL
WWMLRRSLKKYSFESIREES
SYSDIPDVKNDFAFMLHLIDQYDPLYSKRFAVFLSEVSENKLRQLNLNNEWTLDKLRQRL
TKNAQDKLELHLFMLSGIPDTVFDLVELEVLKLELIPDVTIPPSIAQLTGLKELWLYHTA
AKIEAPALAFLRENLRALHIKFTDIKEIPLWIYSLKTLEELHLTGNLSAENNRYIVIDGL
RELKRLKVLRLKSNLSKLPQVVTDVGVHLQKLSINNEGTKLIVLNSLKKMANLTELELIR
CDLERIPHSIFSLHNLQEIDLKDNNLKTIEEIISFQHLHRLTCLKLWYNHI
AYIPIQIGN
LTNLERLYLNRNKIEKIPTQLFYCRKLRYLDLSHNNLTFLPADIGL
LQNLQNLAITANRI
ETLPPELFQCRKLRALHLGNNVLQSLPSRVGELTNLTQIELRGNRL
ECLPVELGECPLLK
RSGLVVEEDLFNTLPPEVKERLWRADKEQA
Sequence length 810
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Agammaglobulinemia 5, autosomal dominant Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs1840810037, rs11999754, rs202218761, rs55689326, rs3750319, rs3750320, rs143836544, rs3750318, rs41275930, rs11999256, rs11999276, rs16930757, rs11999752, rs16930745, rs138622041
View all (3 more)
RCV001329721
RCV001803344
RCV002500247
RCV003604606
RCV001730693
RCV001730692
RCV000999902
RCV000507866
RCV000506087
RCV001803967
RCV001001645
RCV001001646
RCV001804110
RCV001001644
RCV002495422
RCV000986130
RCV000986131
RCV001000413
Gastric cancer Likely benign rs777628588 RCV005925620
LRRC8A-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs200873510, rs143934910, rs768641393, rs16930747, rs530372793, rs369898214, rs201296136, rs146661687, rs141527072, rs762843165, rs199588534, rs1297710361, rs55689326, rs143836544, rs11999276
View all (8 more)
RCV003908537
RCV003963258
RCV003956102
RCV003931043
RCV003416607
RCV003951221
RCV003893149
RCV003916361
RCV003923502
RCV003404052
RCV003953918
RCV003399576
RCV003929344
RCV003935327
RCV003935868
RCV003935869
RCV003906063
RCV003940626
RCV003930735
RCV004746141
RCV003922868
RCV003413771
RCV003918637
Lung cancer Uncertain significance rs145027705 RCV005924163
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 14660746
Atherosclerosis Associate 33932953
Bruton type agammaglobulinemia Associate 14660738, 15094057
Carcinogenesis Stimulate 36632452
Carcinoma Hepatocellular Associate 31597595
Eosinophilic Esophagitis Associate 37439560
Epilepsy Associate 37410995
Epilepsy Familial Mesial Temporal Lobe Associate 37410995
Esophageal Squamous Cell Carcinoma Associate 31323188
Glaucoma Associate 30931966