Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56262
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 8 VRAC subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRRC8A
Synonyms (NCBI Gene) Gene synonyms aliases
AGM5, HsLRRC8A, LRRC8, SWELL1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez 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 fou
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608360 19027 ENSG00000136802
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Agammaglobulinemia agammaglobulinemia 5, autosomal dominant, autosomal agammaglobulinemia N/A N/A ClinVar, GenCC
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease 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