CLCN3
entrez
1182
canonical
uniprot
P51790
canonical
ensembl
ENSG00000109572
resolver
ensp
ENSP00000261514
resolver
ensp
ENSP00000353857
resolver
ensp
ENSP00000424603
resolver
ensp
ENSP00000425323
resolver
enst
ENST00000507875
resolver
genesymbol
CLCN3
resolver
hgnc
HGNC:2021
resolver
uniprot
A0A087WU31
resolver
uniprot
B3KXK0
resolver
uniprot
B7Z932
resolver
uniprot
B9EGJ9
resolver
uniprot
D3DP34
resolver
uniprot
E9PB97
resolver
uniprot
E9PE15
resolver
uniprot
O14918
resolver
uniprot
Q86Z21
resolver
uniprot_entry
B3KXK0_HUMAN
resolver
uniprot_entry
CLCN3_HUMAN
resolver
uniprot_entry
E9PE15_HUMAN
resolver
uniprot_sec
A0A087WU31
resolver
uniprot_sec
B7Z932
resolver
uniprot_sec
B9EGJ9
resolver
uniprot_sec
D3DP34
resolver
uniprot_sec
E9PB97
resolver
uniprot_sec
O14918
resolver
uniprot_sec
Q86Z21
resolver
amino_acid_sequence
MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMTNGGSINSSTHLLDLLDEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTKSLYDAWSGWLVVTLTGLASGALAGLIDIAADWMTDLKEGICLSALWYNHEQCCWGSNETTFEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLFPKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFVLRSINPFGNSRLVLFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKSTKFGKYPVLEVIIVAAITAVIAFPNPYTRLNTSELIKELFTDCGPLESSSLCDYRNDMNASKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSGLFIPSMAIGAIAGRIVGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFELTGGLEYIVPLMAAVMTSKWVGDAFGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRPRRNDPPLAVLTQDNMTVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIESARKKQEGIVGSSRVCFAQHTPSLPAESPRPLKLRSILDMSPFTVTDHTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDILRHMAQTANQDPASIMFN
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) [MIM:619512]: An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) [MIM:619517]: An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874). {ECO:0000250|UniProtKB:P51791, ECO:0000303|PubMed:29845874}.; FUNCTION: [Isoform 2]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons. {ECO:0000269|PubMed:11967229}.
uniprot
proteins
mass_dalton
90966
uniprot
proteins
mutagenesis
MUTAGEN 280; /note="G->E: Changes channel selectivity from I(-)>Cl(-) to Cl(-)>I(-)."; /evidence="ECO:0000269|PubMed:11274166
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:11274166, ECO:0000269|PubMed:12471024}.
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
protein_family
ClC-3/CLCN3 subfamily
uniprot
proteins
pubmed
10198195
uniprot
proteins
pubmed
11274166
uniprot
proteins
pubmed
11967229
uniprot
proteins
pubmed
12471024
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
29845874
uniprot
proteins
pubmed
34186028
uniprot
proteins
pubmed
7665160
uniprot
proteins
pubmed
9678416
uniprot
proteins
sequence_length
818
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Early endosome membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000250|UniProtKB:P51791}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:P51792}; Multi-pass membrane protein {ECO:0000255}. Note=Isoform 1 is localized mainly in late endosomes. {ECO:0000269|PubMed:12471024}.; SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus membrane {ECO:0000269|PubMed:12471024}; Multi-pass membrane protein {ECO:0000255}. Cell projection, ruffle membrane {ECO:0000269|PubMed:11967229}; Multi-pass membrane protein {ECO:0000269|PubMed:11967229}. Note=Isoform 2 is mainly enriched in the Golgi (PubMed:12471024). Colocalizes with NHERF1/EBP50 in membrane ruffles (PubMed:11967229). {ECO:0000269|PubMed:11967229, ECO:0000269|PubMed:12471024}.
uniprot
proteins
transmembrane_region
TRANSMEM 126..163; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 209..232; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 258..276; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 282..301; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 349..367; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 391..416; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 423..443; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 500..520; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 525..544; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 606..624; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523
uniprot
proteins