Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55144
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 8 VRAC subunit D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRRC8D
Synonyms (NCBI Gene) Gene synonyms aliases
HsLRRC8D, LRRC5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.2
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612890 16992 ENSG00000171492
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, 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
View all (44 more)
28604730
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 32650679
Endometrial Neoplasms Associate 30306731
Psoriasis Associate 33932953
Tuberculosis Pulmonary Associate 36787336