This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. 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 t... See more...

Aliases for ATP2A2 Gene

Aliases for ATP2A2 Gene

  • ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2 2 3 5
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 2 2 3 4
  • Calcium Pump 2 2 3 4
  • SERCA2 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
  • ATP2B 3 4
  • ATPase, Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 2
  • ATPase Ca++ Transporting Cardiac Muscle Slow Twitch 2 3
  • ATPase, Ca++ Dependent, Slow-Twitch, Cardiac Muscle-2 3
  • Cardiac Ca2+ ATPase 3
  • EC 7.2.2.10 4
  • EC 3.6.3.8 51
  • EC 3.6.3 51
  • ATP2A2 5
  • 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 the skeletal muscle. 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. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]

GeneCards Summary for ATP2A2 Gene

ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2) is a Protein Coding gene. Diseases associated with ATP2A2 include Acrokeratosis Verruciformis and Darier-White Disease. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is ATP2A1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2A2 Gene

Genomics for ATP2A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP2A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP2A2

Top Transcription factor binding sites by QIAGEN in the ATP2A2 gene promoter:
  • Sp1
  • STAT3

Genomic Locations for ATP2A2 Gene

Genomic Locations for ATP2A2 Gene
chr12:110,280,756-110,351,093
(GRCh38/hg38)
Size:
70,338 bases
Orientation:
Plus strand
chr12:110,718,561-110,788,898
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Ubiquitous housekeeping isoform.
    • [Isoform 2]: Cardiac/slow twitch, muscle specific isoform. Has a lower affinity for calcium and a higher catalytic turnover rate.
    • [Isoform 3]: May be due to intron retention. Shows a lower apparent affinity for cytosolic calcium than isoform 2 and a catalytic turnover rate similar to isoform 1.

    Three dimensional structures from OCA and Proteopedia for ATP2A2 Gene

    Alternative splice isoforms for ATP2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2A2 Gene

Selected DME Specific Peptides for ATP2A2 Gene

P16615:
  • NSLSENQSL
  • TTCLALGT
  • DPVHGGSW
  • VPGDIVE
  • FGVNESTGLSLEQVKKLKE
  • TEIGKIRD
  • ERANACNSVI
  • AICRRIG
  • STTLRVDQSILTGES
  • DKTGTLTTN
  • MITGDNKGTA
  • VLKISLPVI
  • LEFSRDRK
  • LVRILLLAA
  • TPLQQKLDEF
  • SWPFVLLI
  • KLDEFGEQLSKVISLIC
  • DGLVELATICALCNDS
  • RMPPWENIWLVG
  • TGSTYAP
  • HKSKIVE
  • ACNSVIKQLM
  • SFVLAWFEEGEET
  • GEVHKDDK
  • YVGAATVG
  • LWVNLVTDGLPA
  • DKTGTLT
  • AIEALKEYEPEMGKV
  • DTLRCLALAT
  • NELPAEE
  • DRKSVQRIKA
  • MTGDGVND
  • SVETLGCT
  • IGIAMGSGTAVAK
  • PDPRAVNQDKKN
  • DDNFSTI
  • VQLLWVN
  • PLPLIFQ
  • FYQLSHFLQCKEDNPDF
  • IMITGDN
  • AFVEPFVI
  • TGDNKGTA
  • GDGVNDAP
  • RVEPSHK
  • EGRAIYNN
  • TMALSVLVTIEMCNALNS
  • LSMSLHF
  • VGDKVPAD
  • CFARVEP
  • LDYNEAKG
  • INIGHFNDP
  • GWLFFRY
  • LQSFDEITAMTGDGVNDAPALKK
  • ISSNVGEV
  • VGMLDPPR
  • AIPEGLP
  • VARNYLE
  • EKVGEATETAL
  • DQSILTGESVSVIKHT
  • LVEKMNVF
  • EPFVILLIL
  • EQFEDLLVRILL
  • KMFVKGAPE
  • VGVWQERNAE
  • EMVLADDNFS
  • SENQSLLRMPPW
  • IFLTAALG
  • LPSVETLG
  • FIRYLISSN

Post-translational modifications for ATP2A2 Gene

  • Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity.
  • Ubiquitination at Lys460, Lys628, Lys650, and Lys995
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP2A2 Gene

Gene Families for ATP2A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP2A2 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • E1-E2 ATPase-associated region
  • H+-transporting ATPase (proton pump) signature
ProtoNet:

Suggested Antigen Peptide Sequences for ATP2A2 Gene

GenScript: Design optimal peptide antigens:
  • Endoplasmic reticulum class 1/2 Ca(2+) ATPase (AT2A2_HUMAN)
  • ATPase CA++ transporting cardiac muscle slow twitch 2 (B0FYL2_HUMAN)
  • SERCA Ca(2+)-ATPase (B1PM99_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16615

UniProtKB/Swiss-Prot:

AT2A2_HUMAN :
  • Ca(2+) and ATP binding cause major rearrangements of the cytoplasmic and transmembrane domains. According to the E1-E2 model, Ca(2+) binding to the cytosolic domain of the pump in the high-affinity E1 conformation is followed by the ATP-dependent phosphorylation of the active site Asp, giving rise to E1P. A conformational change of the phosphoenzyme gives rise to the low-affinity E2P state that exposes the Ca(2+) ions to the lumenal side and promotes Ca(2+) release. Dephosphorylation of the active site Asp mediates the subsequent return to the E1 conformation.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Domain:
  • Ca(2+) and ATP binding cause major rearrangements of the cytoplasmic and transmembrane domains. According to the E1-E2 model, Ca(2+) binding to the cytosolic domain of the pump in the high-affinity E1 conformation is followed by the ATP-dependent phosphorylation of the active site Asp, giving rise to E1P. A conformational change of the phosphoenzyme gives rise to the low-affinity E2P state that exposes the Ca(2+) ions to the lumenal side and promotes Ca(2+) release. Dephosphorylation of the active site Asp mediates the subsequent return to the E1 conformation.
  • PLN and SLN both have a single transmembrane helix; both occupy a similar binding site that is situated between the ATP2A2 transmembrane helices.
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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10;.
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).
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

Enzyme Numbers (IUBMB) for ATP2A2 Gene

Phenotypes From GWAS Catalog for ATP2A2 Gene

Gene Ontology (GO) - Molecular Function for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005388 calcium-transporting ATPase activity IEA,IDA 16402920
GO:0005509 calcium ion binding IDA 16402920
GO:0005515 protein binding IPI 17526652
GO:0005524 ATP binding IEA --
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

CRISPR Products

miRNA for ATP2A2 Gene

miRTarBase miRNAs that target ATP2A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A2

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2A2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 16081076
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2844796
GO:0012506 vesicle membrane IEA --
genes like me logo Genes that share ontologies with ATP2A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP2A2 Gene

Pathways & Interactions for ATP2A2 Gene

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

Pathways by source for ATP2A2 Gene

2 GeneGo (Thomson Reuters) pathways for ATP2A2 Gene
  • Development Beta-adrenergic receptors signaling via cAMP
  • Signal transduction Calcium signaling
4 Qiagen pathways for ATP2A2 Gene
  • Beta-Adrenergic Signaling
  • Calcium Mediated T-Cell Apoptosis
  • Dopamine-DARPP32 Feedback onto cAMP Pathway
  • Intracellular Calcium Signaling
3 Cell Signaling Technology pathways for ATP2A2 Gene

SIGNOR curated interactions for ATP2A2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ATP2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IEA --
GO:0003009 skeletal muscle contraction IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IMP 18068335
genes like me logo Genes that share ontologies with ATP2A2: view

Drugs & Compounds for ATP2A2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, inhibitor 209
Lithium carbonate Approved Pharma Mood stabilizer; inhibits Na+/K+ ATPase pump activity 301
Magnesium Approved, Experimental, Investigational Pharma 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 49
Istaroxime Investigational Pharma Target Na+/K+ ATPase inhibitor 0

(3) Additional Compounds for ATP2A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for ATP2A2 Gene

Compound Action Cas Number
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

(18) ApexBio Compounds for ATP2A2 Gene

Compound Action Cas Number
ARL 67156 trisodium salt ecto-ATPase inhibitor 1021868-83-6
Ciclopirox ethanolamine 41621-49-2
Cyclopiazonic acid 18172-33-3
Enterostatin 117830-79-2
Glucagon (19-29), human Potent Ca2+/Mg2+-ATPase inhibitor 64790-15-4
Istaroxime Na+/K+ ATPase inhibitor 203737-93-3
K 858 72926-24-0
Lithium carbonate 554-13-2
ML 240 1346527-98-7
MYK-461 inhibits adenosine triphosphatase activity
Ochratoxin A 303-47-9
Paprotrain 57046-73-8
Paxilline 57186-25-1
POM 1 12141-67-2
PSB 06126 1052089-16-3
PSB 069 78510-31-3
SCH 28080 76081-98-6
Thapsigargin 67526-95-8
genes like me logo Genes that share compounds with ATP2A2: view

Drug Products

Transcripts for ATP2A2 Gene

mRNA/cDNA for ATP2A2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2A2

Clone Products

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

No ASD Table

Relevant External Links for ATP2A2 Gene

GeneLoc Exon Structure for
ATP2A2

Expression for ATP2A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP2A2 Gene



Protein tissue co-expression partners for ATP2A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP2A2

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.

Evidence on tissue expression from TISSUES for ATP2A2 Gene

  • Nervous system(5)
  • Heart(5)
  • Eye(4.8)
  • Muscle(4.8)
  • Liver(4.7)
  • Kidney(4.7)
  • Skin(4.4)
  • Lung(4.2)
  • Intestine(3.5)
  • Stomach(3.3)
  • Thyroid gland(3.1)
  • Pancreas(3.1)
  • Blood(2.8)
  • Adrenal gland(2.5)
  • Spleen(2.3)
  • Bone(2.2)
  • Bone marrow(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2A2 Gene

Germ Layers:
  • ectoderm
Systems:
  • digestive
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • salivary gland
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ATP2A2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ATP2A2 30 31
  • 99.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP2A2 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP2A2 30 31
  • 93.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP2A2 30 31
  • 92.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A2 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp2a2 30 17 31
  • 90.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp2a2 30
  • 90.15 (n)
Chicken
(Gallus gallus)
Aves ATP2A2 30 31
  • 81.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP2A2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp2a2 30
  • 80.65 (n)
Str.10843 30
Zebrafish
(Danio rerio)
Actinopterygii atp2a2b 31
  • 88 (a)
OneToMany
atp2a2a 30 31
  • 76.15 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ca-P60A 31 32
  • 71 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sca-1 31
  • 67 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMR1 31
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 69 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5719 30
Species where no ortholog for ATP2A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2A2: view image

Paralogs for ATP2A2 Gene

(8) SIMAP similar genes for ATP2A2 Gene using alignment to 6 proteins:

  • AT2A2_HUMAN
  • B0FYL2_HUMAN
  • B1PM99_HUMAN
  • F8W1Z7_HUMAN
  • H7C5W9_HUMAN
  • J3QSY6_HUMAN

Pseudogenes.org Pseudogenes for ATP2A2 Gene

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

Variants for ATP2A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP2A2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
17791 Pathogenic: Keratosis follicularis 110,323,073(+) G/A SPLICE_DONOR_VARIANT
709269 Likely Benign: not provided 110,342,233(+) C/T SYNONYMOUS_VARIANT
720356 Benign: not provided 110,346,007(+) C/T SYNONYMOUS_VARIANT
723957 Likely Benign: not provided 110,332,650(+) C/T SYNONYMOUS_VARIANT
726487 Likely Benign: not provided 110,346,312(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP2A2 Gene

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

Variant ID Type Subtype PubMed ID
esv28186 CNV loss 19812545
esv3332882 CNV duplication 20981092
nsv1044428 CNV gain 25217958
nsv1143569 CNV deletion 24896259
nsv560152 CNV loss 21841781
nsv560153 CNV gain 21841781
nsv560154 CNV gain 21841781

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)

Additional Variant Information for ATP2A2 Gene

Human Gene Mutation Database (HGMD)
ATP2A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2A2

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

Disorders for ATP2A2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ATP2A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acrokeratosis verruciformis
  • akv
darier-white disease
  • dar
keratosis
  • actinic keratosis
benign chronic pemphigus
  • bcpm
bipolar disorder
  • major affective disorder 1
- 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, ECO:0000269 PubMed:28035777}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATP2A2

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

No data available for Genatlas for ATP2A2 Gene

Publications for ATP2A2 Gene

  1. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (PMID: 10080178) Sakuntabhai A … Hovnanian A (Nature genetics 1999) 2 3 4 23
  2. 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 VL … Strachan T (Human molecular genetics 1999) 3 4 23 41
  3. The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PMID: 18971376) Vafiadaki E … Kranias EG (Molecular biology of the cell 2009) 3 4 23
  4. A724A polymorphism of sarco(endo)plasmic reticulum Ca2+-ATPase 2 (SERCA2) in hypertensive patients. (PMID: 17439322) Kiec-Wilk B … Kawecka-Jaszcz K (Clinical chemistry and laboratory medicine 2007) 3 23 41
  5. Ca2+-ATPases in non-failing and failing heart: evidence for a novel cardiac sarco/endoplasmic reticulum Ca2+-ATPase 2 isoform (SERCA2c). (PMID: 16402920) Dally S … Enouf J (The Biochemical journal 2006) 3 4 23

Products for ATP2A2 Gene

  • Signalway ELISA kits for ATP2A2
  • Signalway Proteins for ATP2A2

Sources for ATP2A2 Gene