InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCN7

Summary

InnateDB Protein

IDBP-8981.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLCN7

Protein Name

chloride channel 7

Synonyms

CLC-7; CLC7; OPTA2; OPTB4; PPP1R63;

Species

Homo sapiens

Ensembl Protein

ENSP00000372193

InnateDB Gene

IDBG-8979 (CLCN7)

Protein Structure

UniProt Annotation

Function

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. {ECO:0000269PubMed:18449189, ECO:0000269PubMed:21527911}.

Subcellular Localization

Lysosome membrane {ECO:0000269PubMed:17897319, ECO:0000269PubMed:18449189, ECO:0000269PubMed:21527911}; Multi-pass membrane protein {ECO:0000269PubMed:17897319, ECO:0000269PubMed:18449189, ECO:0000269PubMed:21527911}.

Disease Associations

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:0000269PubMed:11207362, ECO:0000269PubMed:11741829, ECO:0000269PubMed:14584882, ECO:0000269PubMed:17033731, ECO:0000269PubMed:19953639}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11741829, ECO:0000269PubMed:14584882, ECO:0000269PubMed:19953639}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, testis, muscle and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005247	voltage-gated chloride channel activity
GO:0005254	chloride channel activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0015297	antiporter activity

Biological Process

GO:0006810	transport
GO:0006821	chloride transport
GO:0009268	response to pH
GO:0034220	ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport