Details for: ATP2A2

Gene ID: 488

Symbol: ATP2A2

Ensembl ID: ENSG00000174437

Description: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.57
    Marker Score: 102052
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.54
    Marker Score: 7779
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.35
    Marker Score: 11922
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.33
    Marker Score: 8337
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.91
    Marker Score: 51582
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.87
    Marker Score: 905
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.45
    Marker Score: 21320
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 2.36
    Marker Score: 8124
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.33
    Marker Score: 2067
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.3
    Marker Score: 10638
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 2.24
    Marker Score: 1706
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.23
    Marker Score: 2349.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.22
    Marker Score: 1055
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.19
    Marker Score: 9172
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.14
    Marker Score: 28513
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.1
    Marker Score: 41810
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.09
    Marker Score: 1997
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.09
    Marker Score: 3657
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.07
    Marker Score: 78768
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.06
    Marker Score: 10124
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.05
    Marker Score: 69265
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.04
    Marker Score: 1363
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.01
    Marker Score: 73998
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2
    Marker Score: 2304
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.96
    Marker Score: 18393
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.94
    Marker Score: 29026
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.9
    Marker Score: 64516
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.89
    Marker Score: 7848
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.89
    Marker Score: 4307
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.88
    Marker Score: 115840
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.88
    Marker Score: 40131
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.86
    Marker Score: 7187
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.86
    Marker Score: 13812
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.85
    Marker Score: 14184
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.83
    Marker Score: 2701
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.83
    Marker Score: 1246
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.82
    Marker Score: 3451
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.81
    Marker Score: 17240
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.81
    Marker Score: 2330
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.8
    Marker Score: 2036
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.78
    Marker Score: 3419
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.78
    Marker Score: 18348
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.77
    Marker Score: 1228
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.76
    Marker Score: 15089
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.75
    Marker Score: 1867
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.74
    Marker Score: 444
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.72
    Marker Score: 1002
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.72
    Marker Score: 4114
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.71
    Marker Score: 925
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.7
    Marker Score: 6931
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.69
    Marker Score: 837
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.67
    Marker Score: 483
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.67
    Marker Score: 822
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.65
    Marker Score: 455
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.62
    Marker Score: 758
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.62
    Marker Score: 467
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 1.62
    Marker Score: 740
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.61
    Marker Score: 2271
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6
    Marker Score: 3914.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.6
    Marker Score: 5922
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.6
    Marker Score: 12482
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.6
    Marker Score: 2684
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.59
    Marker Score: 1853
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.58
    Marker Score: 6585
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.57
    Marker Score: 54331
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.56
    Marker Score: 1726
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.55
    Marker Score: 1340
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 1.55
    Marker Score: 407
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.53
    Marker Score: 2369
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.53
    Marker Score: 637
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.52
    Marker Score: 1190
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.49
    Marker Score: 771
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.49
    Marker Score: 12837
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.47
    Marker Score: 1254
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.46
    Marker Score: 3921
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.46
    Marker Score: 427
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.45
    Marker Score: 1789
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.45
    Marker Score: 1139
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.44
    Marker Score: 1554
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.44
    Marker Score: 1734
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.43
    Marker Score: 1241
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.42
    Marker Score: 367
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.39
    Marker Score: 1395
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.38
    Marker Score: 8897
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.38
    Marker Score: 7397
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.38
    Marker Score: 8780
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.37
    Marker Score: 7211
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.37
    Marker Score: 5906
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.36
    Marker Score: 662
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.36
    Marker Score: 7129
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.35
    Marker Score: 1585
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.35
    Marker Score: 6484
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.35
    Marker Score: 2459
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.34
    Marker Score: 501
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.34
    Marker Score: 4210
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.34
    Marker Score: 15099
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.34
    Marker Score: 799
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.34
    Marker Score: 950
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.33
    Marker Score: 20780
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.32
    Marker Score: 7080

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Other Information

**Key characteristics:** * The AT2A2 gene is located on chromosome 19p13.1. * It is a large gene, encoding a protein of approximately 1,600 amino acids. * The protein is a member of the ATPase superfamily, which is responsible for transporting calcium ions across cell membranes. * AT2A2 is a calcium pump, which means that it actively transports calcium ions from the extracellular environment into the cell. **Pathways and functions:** * AT2A2 is involved in a variety of cellular processes, including cardiac conduction, muscle contraction, and platelet homeostasis. * In the heart, AT2A2 is expressed in the cardiac conduction pathway, where it helps to maintain the resting membrane potential of cardiac myocytes. * It is also expressed in skeletal and smooth muscle cells, where it is involved in muscle contraction. * In platelets, AT2A2 is expressed on the surface of platelets, where it helps to regulate platelet aggregation and release. **Clinical significance:** * Mutations in the ATP2A2 gene have been linked to several human diseases, including hypertrophic cardiomyopathy, arrhythmias, and ischemic heart disease. * In hypertrophic cardiomyopathy, mutations in AT2A2 can lead to the formation of abnormal cardiac muscle fibers that can lead to heart failure. * In arrhythmias, mutations in AT2A2 can cause abnormal heart rhythms. * In ischemic heart disease, mutations in AT2A2 can lead to reduced calcium sensitivity of cardiac myocytes, which can increase the risk of cardiac arrhythmias. **Conclusion:** The ATP2A2 gene is an important regulator of calcium signaling in the heart and blood vessels. Mutations in this gene can have a significant impact on cardiovascular health, and are a target for the treatment of a variety of cardiovascular diseases.

Genular Protein ID: 1937224347

Symbol: AT2A2_HUMAN

Name: Calcium pump 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2844796

Title: Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene.

PubMed ID: 2844796

DOI: 10.1016/s0021-9258(18)68141-4

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12659872

Title: Identification of a new SERCA2 splice variant regulated during monocytic differentiation.

PubMed ID: 12659872

DOI: 10.1016/s0006-291x(03)00405-4

PubMed ID: 12804600

Title: Ca2+ -dependent interaction of S100A1 with the sarcoplasmic reticulum Ca2+ -ATPase2a and phospholamban in the human heart.

PubMed ID: 12804600

DOI: 10.1016/s0006-291x(03)00987-2

PubMed ID: 14749390

Title: TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis.

PubMed ID: 14749390

DOI: 10.1128/mcb.24.4.1758-1768.2004

PubMed ID: 16399855

Title: Detection of sequence-specific tyrosine nitration of manganese SOD and SERCA in cardiovascular disease and aging.

PubMed ID: 16399855

DOI: 10.1152/ajpheart.01293.2005

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18971376

Title: The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival.

PubMed ID: 18971376

DOI: 10.1091/mbc.e08-06-0587

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22084111

Title: POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters.

PubMed ID: 22084111

DOI: 10.1073/pnas.1117231108

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25996873

Title: TMEM203 is a novel regulator of intracellular calcium homeostasis and is required for spermatogenesis.

PubMed ID: 25996873

DOI: 10.1371/journal.pone.0127480

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27502484

Title: TMX1 determines cancer cell metabolism as a thiol-based modulator of ER-mitochondria Ca2+ flux.

PubMed ID: 27502484

DOI: 10.1083/jcb.201512077

PubMed ID: 10441323

Title: Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

PubMed ID: 10441323

DOI: 10.1093/hmg/8.9.1611

PubMed ID: 10441324

Title: ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

PubMed ID: 10441324

DOI: 10.1093/hmg/8.9.1621

PubMed ID: 10441325

Title: ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

PubMed ID: 10441325

DOI: 10.1093/hmg/8.9.1631

PubMed ID: 10080178

Title: Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

PubMed ID: 10080178

DOI: 10.1038/6784

PubMed ID: 12542527

Title: Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.

PubMed ID: 12542527

DOI: 10.1046/j.1523-1747.2003.t01-1-12045.x

PubMed ID: 16402920

Title: Ca2+-ATPases in non-failing and failing heart: evidence for a novel cardiac sarco/endoplasmic reticulum Ca2+-ATPase 2 isoform (SERCA2c).

PubMed ID: 16402920

DOI: 10.1042/bj20051427

PubMed ID: 28890335

Title: The ER-Localized Transmembrane Protein EPG-3/VMP1 Regulates SERCA Activity to Control ER-Isolation Membrane Contacts for Autophagosome Formation.

PubMed ID: 28890335

DOI: 10.1016/j.molcel.2017.08.005

PubMed ID: 31735293

Title: TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities.

PubMed ID: 31735293

DOI: 10.1016/j.ajhg.2019.10.009

PubMed ID: 19995371

Title: Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.

PubMed ID: 19995371

DOI: 10.1111/j.1365-2133.2009.09580.x

PubMed ID: 28035777

Title: Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 associated with Darier disease and Hailey-Hailey disease.

PubMed ID: 28035777

DOI: 10.1002/humu.23164

Sequence Information:

  • Length: 1042
  • Mass: 114757
  • Checksum: 5462FF2DA7FB630A
  • Sequence:
  • MENAHTKTVE EVLGHFGVNE STGLSLEQVK KLKERWGSNE LPAEEGKTLL ELVIEQFEDL 
    LVRILLLAAC ISFVLAWFEE GEETITAFVE PFVILLILVA NAIVGVWQER NAENAIEALK 
    EYEPEMGKVY RQDRKSVQRI KAKDIVPGDI VEIAVGDKVP ADIRLTSIKS TTLRVDQSIL 
    TGESVSVIKH TDPVPDPRAV NQDKKNMLFS GTNIAAGKAM GVVVATGVNT EIGKIRDEMV 
    ATEQERTPLQ QKLDEFGEQL SKVISLICIA VWIINIGHFN DPVHGGSWIR GAIYYFKIAV 
    ALAVAAIPEG LPAVITTCLA LGTRRMAKKN AIVRSLPSVE TLGCTSVICS DKTGTLTTNQ 
    MSVCRMFILD RVEGDTCSLN EFTITGSTYA PIGEVHKDDK PVNCHQYDGL VELATICALC 
    NDSALDYNEA KGVYEKVGEA TETALTCLVE KMNVFDTELK GLSKIERANA CNSVIKQLMK 
    KEFTLEFSRD RKSMSVYCTP NKPSRTSMSK MFVKGAPEGV IDRCTHIRVG STKVPMTSGV 
    KQKIMSVIRE WGSGSDTLRC LALATHDNPL RREEMHLEDS ANFIKYETNL TFVGCVGMLD 
    PPRIEVASSV KLCRQAGIRV IMITGDNKGT AVAICRRIGI FGQDEDVTSK AFTGREFDEL 
    NPSAQRDACL NARCFARVEP SHKSKIVEFL QSFDEITAMT GDGVNDAPAL KKAEIGIAMG 
    SGTAVAKTAS EMVLADDNFS TIVAAVEEGR AIYNNMKQFI RYLISSNVGE VVCIFLTAAL 
    GFPEALIPVQ LLWVNLVTDG LPATALGFNP PDLDIMNKPP RNPKEPLISG WLFFRYLAIG 
    CYVGAATVGA AAWWFIAADG GPRVSFYQLS HFLQCKEDNP DFEGVDCAIF ESPYPMTMAL 
    SVLVTIEMCN ALNSLSENQS LLRMPPWENI WLVGSICLSM SLHFLILYVE PLPLIFQITP 
    LNVTQWLMVL KISLPVILMD ETLKFVARNY LEPGKECVQP ATKSCSFSAC TDGISWPFVL 
    LIMPLVIWVY STDTNFSDMF WS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.