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Aliases for ATP2A2 Gene

Aliases for ATP2A2 Gene

  • ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2 2 3
  • ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 2 3 5
  • Calcium Pump 2 2 3 4
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Slow Twitch Skeletal Muscle Isoform 3 4
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 2 3 4
  • EC 3.6.3.8 4 63
  • SERCA2 3 4
  • ATP2B 3 4
  • ATPase Ca++ Transporting Cardiac Muscle Slow Twitch 2 3
  • ATPase, Ca++ Dependent, Slow-Twitch, Cardiac Muscle-2 3
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 2
  • Cardiac Ca2+ ATPase 3
  • EC 3.6.3 63
  • DAR 3
  • DD 3

External Ids for ATP2A2 Gene

Previous HGNC Symbols for ATP2A2 Gene

  • ATP2B
  • DAR

Previous GeneCards Identifiers for ATP2A2 Gene

  • GC12P109794
  • GC12P110566
  • GC12P109182
  • GC12P110719
  • GC12P107737

Summaries for ATP2A2 Gene

Entrez Gene Summary for ATP2A2 Gene

  • 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]

GeneCards Summary for ATP2A2 Gene

ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2) is a Protein Coding gene. Diseases associated with ATP2A2 include darier disease and acrokeratosis verruciformis. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot for ATP2A2 Gene

  • This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity).

Tocris Summary for ATP2A2 Gene

  • Ca2+-ATPases function to maintain a low cytoplasmic concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A2 Gene

Genomics for ATP2A2 Gene

Regulatory Elements for ATP2A2 Gene

Transcription factor binding sites by QIAGEN in the ATP2A2 gene promoter:

Genomic Location for ATP2A2 Gene

Chromosome:
12
Start:
110,280,756 bp from pter
End:
110,351,093 bp from pter
Size:
70,338 bases
Orientation:
Plus strand

Genomic View for ATP2A2 Gene

Genes around ATP2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2A2 Gene

Proteins for ATP2A2 Gene

  • Protein details for ATP2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16615-AT2A2_HUMAN
    Recommended name:
    Sarcoplasmic/endoplasmic reticulum calcium ATPase 2
    Protein Accession:
    P16615
    Secondary Accessions:
    • A6NDN7
    • B4DF05
    • P16614
    • Q86VJ2

    Protein attributes for ATP2A2 Gene

    Size:
    1042 amino acids
    Molecular mass:
    114757 Da
    Quaternary structure:
    • Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN) (By similarity). Interacts with DWORF (By similarity). Isoform 1 interacts with TRAM2 (via C-terminus) (PubMed:14749390). Interacts with HAX1 (PubMed:18971376). Interacts with S100A8 and S100A9 (By similarity). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with TMEM203 (PubMed:25996873). Interacts with TMEM64 and PDIA3 (By similarity).
    SequenceCaution:
    • Sequence=BAG57266.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2A2 Gene

Proteomics data for ATP2A2 Gene at MOPED

Post-translational modifications for ATP2A2 Gene

  • Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity.
  • Ubiquitination at Lys 143, Lys 460, Lys 628, Lys 650, and Lys 995
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2A2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATP2A2 (SERCA2)

Domains & Families for ATP2A2 Gene

Gene Families for ATP2A2 Gene

Graphical View of Domain Structure for InterPro Entry

P16615

UniProtKB/Swiss-Prot:

AT2A2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2A2: view

Function for ATP2A2 Gene

Molecular function for ATP2A2 Gene

GENATLAS Biochemistry:
ATPase,Ca++ transporting,expressed in the sarcoplasmic reticullum of the heart (SERCA2A) rate determining factor of Ca2+ reuptake into the SR,regulated by phospholamban,also expressed in the heart,slow-twitch muscle,highly expressed in keratinocytes,including two isoforms,a (D12S2026),b (D12S1965). Ca2+ pump,playing a pivotal role in intracellular Ca2+ signaling
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Inhibited by sarcolipin (SLN) and myoregulin (MRLN) (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity).
UniProtKB/Swiss-Prot Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity).

Enzyme Numbers (IUBMB) for ATP2A2 Gene

Gene Ontology (GO) - Molecular Function for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IEA,TAS --
GO:0031775 lutropin-choriogonadotropic hormone receptor binding IEA --
GO:0086039 calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential IEA,TAS 22679139
genes like me logo Genes that share ontologies with ATP2A2: view
genes like me logo Genes that share phenotypes with ATP2A2: view

Human Phenotype Ontology for ATP2A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP2A2 Gene

MGI Knock Outs for ATP2A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP2A2

miRNA for ATP2A2 Gene

miRTarBase miRNAs that target ATP2A2

No data available for Transcription Factor Targets and HOMER Transcription for ATP2A2 Gene

Localization for ATP2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2A2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2A2 Gene COMPARTMENTS Subcellular localization image for ATP2A2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0014801 longitudinal sarcoplasmic reticulum IDA 16402920
GO:0016529 sarcoplasmic reticulum IEA,IDA 12804600
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IEA --
GO:0097470 ribbon synapse IEA --
genes like me logo Genes that share ontologies with ATP2A2: view

Pathways & Interactions for ATP2A2 Gene

genes like me logo Genes that share pathways with ATP2A2: view

Gene Ontology (GO) - Biological Process for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA,IDA 10587333
GO:0006984 ER-nucleus signaling pathway IEA --
GO:0006996 organelle organization IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ATP2A2: view

No data available for SIGNOR curated interactions for ATP2A2 Gene

Drugs & Compounds for ATP2A2 Gene

(13) Drugs for ATP2A2 Gene - From: HMDB, Novoseek, DGIdb, Tocris, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
calcium Nutra 0
Glucagon (19-29), human Pharma Potent Ca2+/Mg2+-ATPase inhibitor 0
ISTAROXIME Pharma 0
Magnesium Nutra 0

(7) Additional Compounds for ATP2A2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thapsigargin
67526-95-8
Cyclopiazonic acid
18172-33-3

(5) Tocris Compounds for ATP2A2 Gene

Compound Action Cas Number
Cyclopiazonic acid Inhibitor of SERCA ATPase 18172-33-3
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
Ochratoxin A Stimulates SERCA-ATP-dependent Ca2+ pump activity 303-47-9
Paxilline SERCA ATPase blocker. Also potent BKCa channel blocker 57186-25-1
Thapsigargin Potent inhibitor of SERCA ATPase 67526-95-8

(1) ApexBio Compounds for ATP2A2 Gene

Compound Action Cas Number
Glucagon (19-29), human Potent Ca2+/Mg2+-ATPase inhibitor 64790-15-4
genes like me logo Genes that share compounds with ATP2A2: view

Transcripts for ATP2A2 Gene

Unigene Clusters for ATP2A2 Gene

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A2 Gene

No ASD Table

Relevant External Links for ATP2A2 Gene

GeneLoc Exon Structure for
ATP2A2
ECgene alternative splicing isoforms for
ATP2A2

Expression for ATP2A2 Gene

mRNA expression in normal human tissues for ATP2A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2A2 Gene

This gene is overexpressed in Muscle - Skeletal (x11.3), Heart - Left Ventricle (x7.6), and Heart - Atrial Appendage (x7.3).

Protein differential expression in normal tissues from HIPED for ATP2A2 Gene

This gene is overexpressed in Heart (16.1) and Nasal epithelium (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2A2 Gene



SOURCE GeneReport for Unigene cluster for ATP2A2 Gene Hs.506759

mRNA Expression by UniProt/SwissProt for ATP2A2 Gene

P16615-AT2A2_HUMAN
Tissue specificity: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart.
genes like me logo Genes that share expression patterns with ATP2A2: view

Protein tissue co-expression partners for ATP2A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ATP2A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP2A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP2A2 35
  • 93.07 (n)
  • 98.52 (a)
ATP2A2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A2 35
  • 92.25 (n)
  • 98.99 (a)
ATP2A2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2a2 35
  • 90.34 (n)
  • 98.85 (a)
Atp2a2 16
Atp2a2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP2A2 35
  • 99.43 (n)
  • 99.4 (a)
ATP2A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a2 35
  • 90.15 (n)
  • 99.04 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2A2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A2 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP2A2 35
  • 81.77 (n)
  • 93.95 (a)
ATP2A2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2A2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a2 35
  • 80.65 (n)
  • 93.09 (a)
Str.10843 35
zebrafish
(Danio rerio)
Actinopterygii atp2a2a 35
  • 76.15 (n)
  • 87.84 (a)
atp2a2a 36
  • 86 (a)
OneToMany
atp2a2b 36
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 37
  • 72 (a)
Ca-P60A 36
  • 71 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sca-1 36
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5719 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 69 (a)
ManyToMany
Species with no ortholog for ATP2A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP2A2 Gene

ENSEMBL:
Gene Tree for ATP2A2 (if available)
TreeFam:
Gene Tree for ATP2A2 (if available)

Paralogs for ATP2A2 Gene

Paralogs for ATP2A2 Gene

Pseudogenes.org Pseudogenes for ATP2A2 Gene

genes like me logo Genes that share paralogs with ATP2A2: view

Variants for ATP2A2 Gene

Sequence variations from dbSNP and Humsavar for ATP2A2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs28929478 Darier disease (DD) 110,281,857(+) TACGG(A/G)GCTGA nc-transcript-variant, reference, missense
VAR_008609 Darier disease (DD)
VAR_008611 Darier disease (DD)
VAR_008612 Darier disease (DD)
VAR_008613 Darier disease (DD)

Structural Variations from Database of Genomic Variants (DGV) for ATP2A2 Gene

Variant ID Type Subtype PubMed ID
esv28186 CNV Loss 19812545

Variation tolerance for ATP2A2 Gene

Residual Variation Intolerance Score: 2.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP2A2 Gene

HapMap Linkage Disequilibrium report
ATP2A2
Human Gene Mutation Database (HGMD)
ATP2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A2 Gene

Disorders for ATP2A2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ATP2A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
darier disease
  • keratosis follicularis
acrokeratosis verruciformis
  • acrokeratosis verruciformis of hopf
hailey-hailey disease
  • benign chronic pemphigus
mitral valve stenosis
  • mitral stenosis
frey syndrome
  • baillarger syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT2A2_HUMAN
  • Acrokeratosis verruciformis (AKV) [MIM:101900]: A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease. {ECO:0000269 PubMed:12542527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Darier disease (DD) [MIM:124200]: A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi. {ECO:0000269 PubMed:10080178, ECO:0000269 PubMed:10441323, ECO:0000269 PubMed:10441324, ECO:0000269 PubMed:10441325, ECO:0000269 PubMed:19995371}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP2A2

Genetic Association Database (GAD)
ATP2A2
Human Genome Epidemiology (HuGE) Navigator
ATP2A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2A2
genes like me logo Genes that share disorders with ATP2A2: view

No data available for Genatlas for ATP2A2 Gene

Publications for ATP2A2 Gene

  1. ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. (PMID: 10441324) Ruiz-Perez V.L. … Strachan T. (Hum. Mol. Genet. 1999) 3 4 23 48 67
  2. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (PMID: 10080178) Sakuntabhai A. … Hovnanian A. (Nat. Genet. 1999) 2 3 23
  3. Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease. (PMID: 20204653) Song J. … Zhang G.L. (Arch. Dermatol. Res. 2010) 3 23
  4. Four novel ATP2A2 mutations in Slovenian patients with Darier disease. (PMID: 20223560) Godic A. … Glavac D. (J. Am. Acad. Dermatol. 2010) 3 23
  5. Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes. (PMID: 20423818) Godic A. … Glavac D. (Eur J Dermatol 2010) 3 23

Products for ATP2A2 Gene

Sources for ATP2A2 Gene

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