InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CLCN7

Summary

InnateDB Gene

IDBG-8979.7

Last Modified

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

Gene Symbol

CLCN7

Gene Name

chloride channel, voltage-sensitive 7

Synonyms

CLC-7; CLC7; OPTA2; OPTB4; PPP1R63

Species

Homo sapiens

Ensembl Gene

ENSG00000103249

Encoded Proteins

IDBP-8981

chloride channel 7

IDBP-8983

chloride channel 7

IDBP-363106

chloride channel 7

IDBP-746974

IDBP-745076

IDBP-812670

chloride channel, voltage-sensitive 7

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 16:1444934-1475580

Strand

Reverse strand

Band

p13.3

Transcripts

ENST00000382745	ENSP00000372193
ENST00000262318	ENSP00000262318
ENST00000448525	ENSP00000410907
ENST00000563642
ENST00000561665
ENST00000565092
ENST00000564968
ENST00000564568	ENSP00000454845
ENST00000563822
ENST00000566812
ENST00000567139
ENST00000567836
ENST00000569851	ENSP00000461009
ENST00000567789
ENST00000617857	ENSP00000484408

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
GO:0030554	adenyl nucleotide binding

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

Cellular Component

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000036636

View Gene Order

ENSBTAG00000015889

Not yet available

Pathways

NETPATH

REACTOME

REACT_160189

Stimuli-sensing channels pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_25300

Ion channel transport pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.459649

RefSeq

NM_001114331 NM_001287

HUGO

OMIM

CCDS

CCDS32361 CCDS45378

HPRD

04103

IMGT

EMBL

GenPept

RNA Seq Atlas