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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGAMMAGLOBULINEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agammaglobulinemia 5, autosomal dominant Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL AGAMMAGLOBULINEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agammaglobulinemia Agammaglobulinemia BEFREE 14660746, 28192143
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agammaglobulinemia Agammaglobulinemia Pubtator 14660746 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agammaglobulinemia Agammaglobulinemia HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agammaglobulinemia Agammaglobulinemia CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT Agammaglobulinemia GENOMICS_ENGLAND_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Agammaglobulinemia, non-Bruton type Agammaglobulinemia ORPHANET_DG 14660746
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 33932953 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal agammaglobulinemia Agammaglobulinemia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations