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GENE AND PROTEIN SUMMARY

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Gene name

CLCN7

Description

chloride channel, voltage-sensitive 7

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

6 in total
5 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

 

Staining summary

Localized to the nucleus but excluded from the nucleoli.

Reliability (APE)

Medium

Antibodies in assay

HPA043019, HPA043586
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

General cytoplasmic expression at variable levels.

Tissue specificity

Expressed in 68 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA043019, HPA043586
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 64% of the cancers

Antibodies in assay

HPA043019, HPA043586
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA043019

HPA043586

HPA043019

HPA043586

A-431 Skin Medium
Weak
A-549 Lung High
Weak
CACO-2 Colon High
HEK 293 Embryonal kidney High
HeLa Cervix High
Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
WeakWeak
U-251 MG Brain High
WeakWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA043019 pAb
HPA043586 pAb