LRRC8C
entrez
84230
canonical
uniprot
Q8TDW0
canonical
ensembl
ENSG00000171488
resolver
ensp
ENSP00000359483
resolver
ensp
ENSP00000526798
resolver
enst
ENST00000370454
resolver
enst
ENST00000856739
resolver
genesymbol
LRRC8C
resolver
genesymbol_syn
AD158
resolver
genesymbol_syn
FAD158
resolver
hgnc
HGNC:25075
resolver
uniprot
B3KXS9
resolver
uniprot
Q29RV6
resolver
uniprot
Q9H075
resolver
uniprot_entry
LRC8C_HUMAN
resolver
uniprot_sec
B3KXS9
resolver
uniprot_sec
Q29RV6
resolver
uniprot_sec
Q9H075
resolver
amino_acid_sequence
MIPVTEFRQFSEQQPAFRVLKPWWDVFTDYLSVAMLMIGVFGCTLQVMQDKIICLPKRVQPAQNHSSLSNVSQAVASTTPLPPPKPSPANPITVEMKGLKTDLDLQQYSFINQMCYERALHWYAKYFPYLVLIHTLVFMLCSNFWFKFPGSSSKIEHFISILGKCFDSPWTTRALSEVSGEDSEEKDNRKNNMNRSNTIQSGPEDSLVNSQSLKSIPEKFVVDKSTAGALDKKEGEQAKALFEKVKKFRLHVEEGDILYAMYVRQTVLKVIKFLIIIAYNSALVSKVQFTVDCNVDIQDMTGYKNFSCNHTMAHLFSKLSFCYLCFVSIYGLTCLYTLYWLFYRSLREYSFEYVRQETGIDDIPDVKNDFAFMLHMIDQYDPLYSKRFAVFLSEVSENKLKQLNLNNEWTPDKLRQKLQTNAHNRLELPLIMLSGLPDTVFEITELQSLKLEIIKNVMIPATIAQLDNLQELSLHQCSVKIHSAALSFLKENLKVLSVKFDDMRELPPWMYGLRNLEELYLVGSLSHDISRNVTLESLRDLKSLKILSIKSNVSKIPQAVVDVSSHLQKMCIHNDGTKLVMLNNLKKMTNLTELELVHCDLERIPHAVFSLLSLQELDLKENNLKSIEEIVSFQHLRKLTVLKLWHNSITYIPEHIKKLTSLERLSFSHNKIEVLPSHLFLCNKIRYLDLSYNDIRFIPPEIGVLQSLQYFSITCNKVESLPDELYFCKKLKTLKIGKNSLSVLSPKIGNLLFLSYLDVKGNHFEILPPELGDCRALKRAGLVVEDALFETLPSDVREQMKTE
uniprot
proteins
disease_involvement
DISEASE: Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature (TIMES) [MIM:621056]: An autosomal dominant, pleiotropic disorder characterized by variable features that include telangiectasia, gastrointestinal vascular dysplasia, intellectual disability, skeletal dysplasia with fragile bones, short stature, and eye abnormalities. Patients exhibit striking cutis marmorata in infancy. {ECO:0000269|PubMed:39623139}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:26824658, PubMed:28193731, PubMed:36897307, PubMed:39623139). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658, PubMed:28193731). Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel also mediates transport of immunoreactive cyclic dinucleotide GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol (PubMed:33171122). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731, ECO:0000269|PubMed:33171122, ECO:0000269|PubMed:36897307, ECO:0000269|PubMed:39623139}.
uniprot
proteins
mass_dalton
92450
uniprot
proteins
mutagenesis
MUTAGEN 6; /note="E->C: Decreased amplitudes of swelling-activated current."; /evidence="ECO:0000269|PubMed:29925591"; MUTAGEN 44; /note="T->C: Alters channel anion selectivity."; /evidence="ECO:0000269|PubMed:26824658
uniprot
proteins
protein_family
LRRC8 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15564382
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22532330
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24790029
uniprot
proteins
pubmed
26824658
uniprot
proteins
pubmed
28193731
uniprot
proteins
pubmed
29925591
uniprot
proteins
pubmed
33171122
uniprot
proteins
pubmed
36897307
uniprot
proteins
pubmed
39623139
uniprot
proteins
sequence_length
803
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:28193731}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269|PubMed:24790029}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..47; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR"; TRANSMEM 125..144; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR"; TRANSMEM 263..284; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR"; TRANSMEM 315..339; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
uniprot
proteins