Clcn7 Gene Summary [Mouse]
Predicted to enable chloride transmembrane transporter activity. Predicted to be involved in response to pH and transepithelial chloride transport. Predicted to be part of chloride channel complex. Predicted to be active in lysosomal membrane. Is expressed in several structures, including early conceptus; heart and pericardium; nervous system; oocyte; and submandibular gland primordium. Used to study autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Human ortholog(s) of this gene implicated in autosomal dominant osteopetrosis 2 and autosomal recessive osteopetrosis 4. Orthologous to human CLCN7 (chloride voltage-gated channel 7). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Clcn7 |
| Official Name | chloride channel, voltage-sensitive 7 [Source:MGI Symbol;Acc:MGI:1347048] |
| Ensembl ID | ENSMUSG00000036636 |
| Bio databases IDs | |
| Aliases | chloride channel, voltage-sensitive 7 |
| Synonyms | chloride channel, voltage-sensitive 7, chloride voltage-gated channel 7, CLC-7, D17Wsu51e, HOD, OPTA2, OPTB4, PPP1R63 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Clcn7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Voltage_gated_ClC
- CBS_pair_SF
- Domain in cystathionine beta-synthase and other proteins
- CBS domain
- Voltage gated chloride channel
- chloride channel
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- ATP5MC2
- chloride
disease
- autosomal dominant osteopetrosis type 2
- autosomal recessive osteopetrosis type 4
- hereditary disorder
- neuronal ceroid lipofuscinosis
- hypopigmentation, organomegaly, and delayed myelination and development
- osteopetrosis
- autosomal recessive osteopetrosis
- cutaneous melanoma
- cutaneous melanoma cancer
- mechanical hyperalgesia
phenotypes
- Purkinje cell degeneration
- abnormal autophagy
- abnormal bone marrow cavity morphology
- abnormal bone marrow morphology
- abnormal bone ossification
- abnormal cerebral cortex morphology
- abnormal chloride level
- abnormal coat/hair pigmentation
- abnormal hair shaft melanin granule distribution
- abnormal head morphology
- abnormal hippocampus neuron morphology
- abnormal hippocampus pyramidal cell morphology
- abnormal lysosome morphology
- abnormal lysosome physiology
- abnormal neocortex morphology
- abnormal neuron morphology
- abnormal osteoclast morphology
- abnormal osteoclast physiology
- abnormal posture
- abnormal retinal pigment epithelium morphology
- abnormal stratification in cerebral cortex
- abnormal tooth eruption
- abnormal trabecular bone morphology
- absent photoreceptor inner segment
- absent photoreceptor outer segment
- accumulation of giant lysosomes in kidney/renal tubule cells
- astrocytosis
- cerebral cortex pyramidal cell degeneration
- decreased body size
- decreased body weight
- decreased bone resorption
- decreased bone strength
- decreased bone trabecular spacing
- decreased compact bone area
- decreased compact bone thickness
- enhanced autophagy
- failure of tooth eruption
- hippocampal neuron degeneration
- hippocampus pyramidal cell degeneration
- increased areal bone mineral density
- increased body weight
- increased bone mass
- increased bone mineral content
- increased bone mineral density
- increased bone trabecula number
- increased circulating alkaline phosphatase level
- increased circulating parathyroid hormone level
- increased osteoblast cell number
- increased osteoclast cell number
- increased trabecular bone thickness
- increased trabecular bone volume
- lysosomal protein accumulation
- microgliosis
- myelofibrosis
- neurodegeneration
- optic nerve degeneration
- osteopetrosis
- postnatal growth retardation
- postnatal lethality incomplete penetrance
- premature death
- respiratory failure
- retinal degeneration
- short limbs
- small cranium
- thin retinal inner nuclear layer
- thin retinal outer nuclear layer
- tonic seizures
- tremors
role in cell
- growth
- cell death
- accumulation in
- number
- cell viability
- response
- accumulation
- abnormal morphology
- activation
- excitability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- endosomal fractions
- lysosome fractions
- Cytoplasm
- cellular membrane
- lysosome
- Endoplasmic Reticulum
- trans Golgi network
- lysosome membrane
- neurites
- ruffled borders
- early endosomes
- late endosomes
- endolysosomes
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Clcn7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transepithelial chloride transport
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- intracellular membrane-bounded organelle
- membrane
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- antiporter activity
- chloride channel activity
- chloride transmembrane transporter activity
- voltage-gated chloride channel activity