CLCN7
entrez
1186
canonical
uniprot
P51798
canonical
ensembl
ENSG00000103249
resolver
ensp
ENSP00000372193
resolver
ensp
ENSP00000563052
resolver
genesymbol
CLCN7
resolver
hgnc
HGNC:2025
resolver
uniprot
A6NEJ7
resolver
uniprot
A8K5T9
resolver
uniprot
A8K7X1
resolver
uniprot
B3KPN3
resolver
uniprot
E9PDB9
resolver
uniprot
Q9NYX5
resolver
uniprot_entry
CLCN7_HUMAN
resolver
uniprot_sec
A6NEJ7
resolver
uniprot_sec
A8K5T9
resolver
uniprot_sec
A8K7X1
resolver
uniprot_sec
B3KPN3
resolver
uniprot_sec
E9PDB9
resolver
uniprot_sec
Q9NYX5
resolver
amino_acid_sequence
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMSSVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269|PubMed:11207362, ECO:0000269|PubMed:11741829, ECO:0000269|PubMed:14584882, ECO:0000269|PubMed:17033731, ECO:0000269|PubMed:19953639, ECO:0000269|PubMed:26395888, ECO:0000269|PubMed:26477479}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. {ECO:0000269|PubMed:11741829, ECO:0000269|PubMed:14584882, ECO:0000269|PubMed:19288050, ECO:0000269|PubMed:19953639, ECO:0000269|PubMed:26395888}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypopigmentation, organomegaly, and delayed myelination and development (HOD) [MIM:618541]: An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. {ECO:0000269|PubMed:31155284}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). {ECO:0000250|UniProtKB:P35523, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911, ECO:0000269|PubMed:31155284}.
uniprot
proteins
mass_dalton
88679
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
protein_family
ClC-7/CLCN7 subfamily
uniprot
proteins
pubmed
11207362
uniprot
proteins
pubmed
11741829
uniprot
proteins
pubmed
14584882
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17033731
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18449189
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19288050
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19953639
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21527911
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26395888
uniprot
proteins
pubmed
26477479
uniprot
proteins
pubmed
31155284
uniprot
proteins
pubmed
8543009
uniprot
proteins
pubmed
9565675
uniprot
proteins
sequence_length
805
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}.
uniprot
proteins
transmembrane_region
TRANSMEM 127..159; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 174..197; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 223..241; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 247..264; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 322..341; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 375..405; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 410..432; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 487..507; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 512..535; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 579..597; /note="Helical"; /evidence="ECO:0000250
uniprot
proteins