LRRC8D (leucine rich repeat containing 8 VRAC subunit D)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55144 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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LRRC8D |
SynonymsGene synonyms aliases
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HsLRRC8D, LRRC5 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p22.2 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Digestive system disorders |
Digestive System Disorders |
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29923122 |
Gastrointestinal diseases |
Gastrointestinal Diseases |
|
29923122 |
Intestinal diseases |
Intestinal Diseases |
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29923122 |
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