ATP2A2

GENE INFORMATION

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Gene name

ATP2A2 (HGNC Symbol)

Synonyms

ATP2B, DAR, SERCA2

Description

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (HGNC Symbol)

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]

Chromosome

12 (Chromosome progress)

Cytoband

q24.11

Chromosome location (bp)

110718561 - 110788898

Ensembl

ENSG00000174437 (version 73.37)

Entrez gene

488

UniProt

P16615 (UniProt - Evidence at protein level)

neXtProt

NX_P16615

Antibodypedia

ATP2A2 antibodies
 

PROTEIN VIEW

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ATP2A2-001
 
ATP2A2-002
 
ATP2A2-003
 
ATP2A2-004
 
ATP2A2-006
 
ATP2A2-012
 
ATP2A2-201
 
 
 
 
 

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)

ATP2A2-001 ENSP00000311186
ENST00000308664
P16615
Show all »
Show » Show » 997 109.7 No >9
ATP2A2-002 ENSP00000366913
ENST00000377685
J3QSY6
Show all »
Show » 50 5.7 No 0
ATP2A2-003 ENSP00000440045
ENST00000539276
P16615
Show all »
Show » Show » 1042 114.8 No >9
ATP2A2-004 ENSP00000447406
ENST00000552636
F8W1Z7
Show all »
44 5.3 No 0
ATP2A2-006 ENSP00000449454
ENST00000548169
Show » Show » 933 102.5 No 9
ATP2A2-012 ENSP00000450407
ENST00000553144
Show » 46 5.3 No 0
ATP2A2-201 ENSP00000378872
ENST00000395494
P16615
Show all »
Show » Show » 1015 111.8 No >9