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LRRC8D (leucine rich repeat containing 8 VRAC subunit D)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55144
Gene nameGene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 8 VRAC subunit D
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LRRC8D
SynonymsGene synonyms aliases
HsLRRC8D, LRRC5
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.2
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005467 kshv-miR-K12-3-5p Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR 20413099
MIRT023944 hsa-miR-1-3p Proteomics 18668040
MIRT029937 hsa-miR-26b-5p Microarray 19088304
MIRT040025 hsa-miR-615-3p CLASH 23622248
MIRT039220 hsa-miR-454-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005225 Function Volume-sensitive anion channel activity IMP 26824658
GO:0005225 Function Volume-sensitive anion channel activity IMP 28193731
GO:0005515 Function Protein binding IPI 24790029
GO:0005737 Component Cytoplasm IDA 24790029
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q7L1W4
Protein name Volume-regulated anion channel subunit LRRC8D (Leucine-rich repeat-containing protein 5) (Leucine-rich repeat-containing protein 8D) (HsLRRC8D)
Protein function Non-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:24790029, PubMed:2
PDB 6M04
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12534 Pannexin_like
1 384
Pannexin-like TM region of LRRC8
Family
PF13855 LRR_8
635 695
Leucine rich repeat
Repeat
PF13855 LRR_8
683 741
Leucine rich repeat
Repeat
Sequence
MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPS
PVNSKAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDF
ALPNQEAKKEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSS
NFWFKYPKTCSKVEHFVSILGKCFESPWTTKALSETACEDSEENKQRITGAQTLPKHVST
SSDEGSPSASTPMINKTGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVED
SDLIYKLYVVQTVIKTAKFIFILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAY
MLKKLLISYISIICVYGFICLYTL
FWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLL
HMVDQYDQLYSKRFGVFLSEVSENKLREISLNHEWTFEKLRQHISRNAQDKQELHLFMLS
GVPDAVFDLTDLDVLKLELIPEAKIPAKISQMTNLQELHLCHCPAKVEQTAFSFLRDHLR
CLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENNKMIGLESLRELRHLKILHVKSNLT
KVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAELELQNCELERIPHAIFSLSNL
QELDLKSNNIRTIEEIISFQHL
KRLTCLKLWHNKIVTIPPSITHVKNLESLYFSNNKLES
LPVAVFSLQKLRCLDVSYNNI
SMIPIEIGLLQNLQHLHITGNKVDILPKQLFKCIKLRTL
NLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVEDHLFDTLPL
EVKEALNQDINIPFANGI
Sequence length 858
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Miscellaneous transport and binding events
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 29923122
Lung carcinoma Squamous cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 28604730
Unknown
Disease name Disease term dbSNP ID References
Digestive system disorders Digestive System Disorders 29923122
Gastrointestinal diseases Gastrointestinal Diseases 29923122
Intestinal diseases Intestinal Diseases 29923122

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