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GENE AND PROTEIN SUMMARY

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Gene name

ATP2A2

Description

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

Medium

Entrez gene summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

8 in total
4 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin High

-

-

A-549 Lung High

-

-

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 High

-

-

U-2 OS Bone High

-

-

U-251 MG Brain High

-

-

ANTIBODY SUMMARY

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Pending antibodies