InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Clcn7

Summary

InnateDB Gene

IDBG-150775.6

Last Modified

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

Gene Symbol

Clcn7

Gene Name

chloride channel 7

Synonyms

AA409691; AW538136; ClC-7; D17Wsu51e

Species

Mus musculus

Ensembl Gene

ENSMUSG00000036636

Encoded Proteins

IDBP-150777

chloride channel 7

IDBP-538165

chloride channel 7

IDBP-541904

chloride channel 7

IDBP-540085

chloride channel 7

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000103249:
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:25133391-25162104

Strand

Forward strand

Band

A3.3

Transcripts

ENSMUST00000040729	ENSMUSP00000035964
ENSMUST00000162722
ENSMUST00000160961	ENSMUSP00000124194
ENSMUST00000159773	ENSMUSP00000125546
ENSMUST00000161153
ENSMUST00000162862	ENSMUSP00000124527
ENSMUST00000159426

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [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:0005515	protein binding
GO:0005524	ATP binding
GO:0015297	antiporter activity
GO:0030554	adenyl nucleotide binding

Biological Process

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

Cellular Component

GO:0005765	lysosomal membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031410	cytoplasmic vesicle

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000103249

View Gene Order

ENSBTAG00000015889

Not yet available

Pathways

NETPATH

REACTOME

REACT_196640

Stimuli-sensing channels pathway

REACT_262350

Ion channel transport pathway

REACT_253400

Transmembrane transport of small molecules pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_160189

Stimuli-sensing channels pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_25300

Ion channel transport pathway

REACT_223895

Ion channel transport pathway

REACT_223103

Transmembrane transport of small molecules pathway

REACT_213748

Stimuli-sensing channels pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.270587 Mm.416090

RefSeq

NM_011930 XM_006524296

OMIM

CCDS

CCDS28509

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas