CLCN7

GENERAL INFORMATION

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Gene name

CLCN7

Gene description

Chloride channel, voltage-sensitive 7

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA043019 , HPA043586
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p13.3

Chromosome location (bp)

1444934 - 1475580

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000103249 (version 78.38)

Entrez gene

1186

UniProt

P51798 (UniProt - Evidence at protein level)

neXtProt

NX_P51798

Antibodypedia

CLCN7 antibodies


PROTEIN BROWSER

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ENST00000262318
 
ENST00000382745
 
ENST00000448525
 
ENST00000564568
 
ENST00000569851
 
ENST00000617857
 
 
 
 


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
CLCN7-202 ENSP00000484408
ENST00000617857
Q96RY8
Show all »
Show » Show » 812 89.4 No >9