CLCN7

GENE INFORMATION

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Gene name

CLCN7 (HGNC Symbol)

Synonyms

CLC-7, CLC7, OPTA2, PPP1R63

Description

chloride channel, voltage-sensitive 7 (HGNC Symbol)

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]

Chromosome

16 (Chromosome progress)

Cytoband

p13.3

Chromosome location (bp)

1494935 - 1525581

Ensembl

ENSG00000103249 (version 73.37)

Entrez gene

1186

UniProt

P51798 (UniProt - Evidence at protein level)

neXtProt

NX_P51798

Antibodypedia

CLCN7 antibodies
 

PROTEIN VIEW

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CLCN7-001
 
CLCN7-002
 
CLCN7-009
 
CLCN7-010
 
CLCN7-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLCN7-001 ENSP00000372193
ENST00000382745
P51798
Show all »
Show » Show » 805 88.7 No >9
CLCN7-002 ENSP00000262318
ENST00000262318
H0Y2M6
Show all »
Show » Show » 901 97.2 No >9
CLCN7-009 ENSP00000454845
ENST00000564568
H3BNG8
Show all »
Show » Show » 119 13.5 No 1
CLCN7-010 ENSP00000461009
ENST00000569851
I3L470
Show all »
Show » Show » 216 23.6 No 3
CLCN7-201 ENSP00000410907
ENST00000448525
P51798
Show all »
Show » Show » 781 86 No >9