ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) - Rat Genome Database

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Gene: ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) Homo sapiens
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Symbol: ATP2A2
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
RGD ID: 731733
HGNC Page HGNC:812
Description: Enables several functions, including P-type calcium transporter activity involved in regulation of cardiac muscle cell membrane potential; S100 protein binding activity; and transmembrane transporter binding activity. Involved in several processes, including calcium ion transport; macroautophagy; and mitochondrion-endoplasmic reticulum membrane tethering. Located in intercalated disc; longitudinal sarcoplasmic reticulum; and sarcoplasmic reticulum membrane. Part of calcium ion-transporting ATPase complex. Implicated in acrokeratosis verruciformis; essential hypertension; keratosis follicularis; and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP2B; ATPase Ca++ transporting cardiac muscle slow twitch 2; ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2; ATPase, Ca++ transporting, cardiac muscle, slow twitch 2; calcium pump 2; calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform; cardiac Ca2+ ATPase; DAR; DD; DKFZp686P0211; endoplasmic reticulum class 1/2 Ca(2+) ATPase; FLJ20293; FLJ38063; MGC45367; sarcoplasmic/endoplasmic reticulum calcium ATPase 2; SERCA2; SR Ca(2+)-ATPase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812110,280,616 - 110,351,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12110,280,756 - 110,351,093 (+)EnsemblGRCh38hg38GRCh38
GRCh3712110,719,052 - 110,788,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612109,203,815 - 109,273,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412109,182,151 - 109,251,615NCBI
Celera12110,344,773 - 110,414,642 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12107,737,670 - 107,807,502 (+)NCBIHuRef
CHM1_112110,686,837 - 110,756,707 (+)NCBICHM1_1
T2T-CHM13v2.012110,258,258 - 110,328,744 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-amphetamine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alloxan  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (EXP)
antimony trichloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP,ISO)
astragaloside IV  (ISO)
atrazine  (EXP,ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
Calphostin C  (ISO)
candesartan  (ISO)
Candesartan cilexetil  (ISO)
cantharidin  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
carvedilol  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
cilostazol  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
delta-tocotrienol  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibromine  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
ferrostatin-1  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
Goe 6976  (ISO)
hexadecanoic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
indinavir  (ISO)
indometacin  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (ISO)
leflunomide  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lycopene  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylseleninic acid  (EXP)
metoprolol  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
nickel dichloride  (EXP)
nitrofen  (ISO)
ochratoxin A  (EXP,ISO)
ozone  (EXP,ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
Pirarubicin  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
prazosin  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
razoxane  (ISO)
resveratrol  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sarpogrelate  (ISO)
silicon dioxide  (EXP)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (EXP)
tetraphene  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
tributylstannane  (EXP)
trichloroacetic acid  (ISO)
trichloroethene  (EXP,ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP,ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zidovudine  (ISO)
zinc oxide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagosome assembly  (IBA,IDA)
autophagosome membrane docking  (IDA)
calcium ion import into sarcoplasmic reticulum  (IDA,IEA,ISS)
calcium ion transmembrane transport  (IBA,IDA,IEA)
calcium ion transport  (IEA,ISO)
calcium ion transport from cytosol to endoplasmic reticulum  (IDA)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cell adhesion  (TAS)
cellular response to heat  (ISO)
cellular response to oxidative stress  (IEA,ISO)
endoplasmic reticulum calcium ion homeostasis  (IDA)
epidermis development  (TAS)
ER-nucleus signaling pathway  (IEA,ISO)
intracellular calcium ion homeostasis  (IBA,IDA,IEA,IMP,ISO)
mitochondrion-endoplasmic reticulum membrane tethering  (IDA)
monoatomic ion transmembrane transport  (TAS)
negative regulation of heart contraction  (IEA,ISO)
neuron cellular homeostasis  (IEA,ISO)
organelle localization by membrane tethering  (IDA)
organelle organization  (ISO)
positive regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
positive regulation of endoplasmic reticulum calcium ion concentration  (IDA,IEA,ISO)
positive regulation of heart rate  (TAS)
regulation of calcium ion-dependent exocytosis of neurotransmitter  (IEA,ISO)
regulation of cardiac conduction  (TAS)
regulation of cardiac muscle cell action potential involved in regulation of contraction  (ISS)
regulation of cardiac muscle cell membrane potential  (IDA,IEA,ISS,TAS)
regulation of cardiac muscle contraction by calcium ion signaling  (IBA,IDA,IEA)
regulation of the force of heart contraction  (IEA,ISO)
relaxation of cardiac muscle  (IDA)
relaxation of skeletal muscle  (ISO)
response to endoplasmic reticulum stress  (ISS)
response to lipopolysaccharide  (ISO)
response to peptide hormone  (ISO)
sarcoplasmic reticulum calcium ion transport  (IEA,ISO,TAS)
T-tubule organization  (IEA,ISO)
transition between fast and slow fiber  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway   (EXP)
Alzheimer's disease pathway  (IEA)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
arrhythmogenic right ventricular cardiomyopathy pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium transport pathway   (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Fingolimod attenuates experimental autoimmune neuritis and contributes to Schwann cell-mediated axonal protection. Ambrosius B, etal., J Neuroinflammation. 2017 Apr 26;14(1):92. doi: 10.1186/s12974-017-0864-z.
2. Oxidative stress in cardiomyocytes contributes to decreased SERCA2a activity in rats with metabolic syndrome. Balderas-Villalobos J, etal., Am J Physiol Heart Circ Physiol. 2013 Nov 1;305(9):H1344-53. doi: 10.1152/ajpheart.00211.2013. Epub 2013 Aug 30.
3. Calcium pumps in health and disease. Brini M and Carafoli E, Physiol Rev. 2009 Oct;89(4):1341-78. doi: 10.1152/physrev.00032.2008.
4. Thyroxine increases Serca2 and Ryr2 gene expression in heart failure rats with euthyroid sick syndrome. Campanha FV, etal., Arch Endocrinol Metab. 2016 Nov-Dec;60(6):582-586. doi: 10.1590/2359-3997000000208. Epub 2016 Oct 10.
5. Sildenafil and FDP-Sr attenuate diabetic cardiomyopathy by suppressing abnormal expression of myocardial CASQ2, FKBP12.6, and SERCA2a in rats. Cheng YS, etal., Acta Pharmacol Sin. 2011 Apr;32(4):441-8. Epub 2011 Mar 28.
6. Mitochondrial and sarcoplasmic reticulum abnormalities in cancer cachexia: altered energetic efficiency? Fontes-Oliveira CC, etal., Biochim Biophys Acta. 2013 Mar;1830(3):2770-8. doi: 10.1016/j.bbagen.2012.11.009.
7. Common genetic variants in selected Ca²¿ signaling genes and the risk of appropriate ICD interventions in patients with heart failure. Francia P, etal., J Interv Card Electrophysiol. 2013 Dec;38(3):169-77. doi: 10.1007/s10840-013-9827-1. Epub 2013 Sep 19.
8. Therapeutic efficacy of AAV1.SERCA2a in monocrotaline-induced pulmonary arterial hypertension. Hadri L, etal., Circulation. 2013 Jul 30;128(5):512-23. doi: 10.1161/CIRCULATIONAHA.113.001585. Epub 2013 Jun 26.
9. Tail muscle parvalbumin content is decreased in chronic sacral spinal cord injured rats with spasticity. Harris RL, etal., Exp Physiol. 2011 Dec;96(12):1311-20. doi: 10.1113/expphysiol.2011.061614. Epub 2011 Sep 19.
10. Changing pattern of gene expression is associated with ventricular myocyte dysfunction and altered mechanisms of Ca2+ signalling in young type 2 Zucker diabetic fatty rat heart. Howarth FC, etal., Exp Physiol. 2011 Mar;96(3):325-37. Epub 2011 Jan 7.
11. Contractility of ventricular myocytes is well preserved despite altered mechanisms of Ca2+ transport and a changing pattern of mRNA in aged type 2 Zucker diabetic fatty rat heart. Howarth FC, etal., Mol Cell Biochem. 2012 Feb;361(1-2):267-80. Epub 2011 Oct 19.
12. Protective effect of oxymatrine on chronic rat heart failure. Hu ST, etal., J Physiol Sci. 2011 Sep;61(5):363-72. Epub 2011 Jun 22.
13. Abnormal amounts of intracellular calcium regulatory proteins in SHRSP.Z-Lepr(fa)/IzmDmcr rats with metabolic syndrome and cardiac dysfunction. Kagota S, etal., Can J Physiol Pharmacol. 2013 Feb;91(2):124-33. doi: 10.1139/cjpp-2012-0226. Epub 2013 Feb 15.
14. [Role of the M235T (c.704c>T) polymorphism of angiotensynogen gene as well as A724A (c.2171G>A) polymorphism of SERCA2a gene in ethiopathogenesis of left ventricular hypertrophy in essential hypertension]. Kiec-Wilk B, etal., Przegl Lek. 2010;67(3):151-6.
15. Association of cardiac injury with iron-increased oxidative and nitrative modifications of the SERCA2a isoform of sarcoplasmic reticulum Ca(2+)-ATPase in diabetic rats. Li X, etal., Biochimie. 2016 Aug;127:144-52. doi: 10.1016/j.biochi.2016.05.011. Epub 2016 May 21.
16. Efficient transduction of vascular smooth muscle cells with a translational AAV2.5 vector: a new perspective for in-stent restenosis gene therapy. Lompré AM, etal., Gene Ther. 2013 Sep;20(9):901-12. doi: 10.1038/gt.2013.13. Epub 2013 Mar 28.
17. Urinary excretion of low molecular weight proteins in patients with pure monoclonal light chain proteinuria. Madalena L, etal., J Nephrol. 2007 Nov-Dec;20(6):683-8.
18. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Sakuntabhai A, etal., Nat Genet 1999 Mar;21(3):271-7.
25. Intracellular Ca2+ regulating proteins in vascular smooth muscle cells are altered with type 1 diabetes due to the direct effects of hyperglycemia. Searls YM, etal., Cardiovasc Diabetol. 2010 Feb 1;9:8. doi: 10.1186/1475-2840-9-8.
26. Carbonylation contributes to SERCA2a activity loss and diastolic dysfunction in a rat model of type 1 diabetes. Shao CH, etal., Diabetes. 2011 Mar;60(3):947-59. Epub 2011 Feb 7.
27. Early energy metabolism-related molecular events in skeletal muscle of diabetic rats: The effects of l-arginine and SOD mimic. Stancic A, etal., Chem Biol Interact. 2017 Jun 25;272:188-196. doi: 10.1016/j.cbi.2017.05.003. Epub 2017 May 5.
28. Pharmacological inhibition of DNA methylation attenuates pressure overload-induced cardiac hypertrophy in rats. Stenzig J, etal., J Mol Cell Cardiol. 2018 Jul;120:53-63. doi: 10.1016/j.yjmcc.2018.05.012. Epub 2018 May 21.
29. Decreased cardiac SERCA2 expression, SR Ca uptake, and contractile function in hypothyroidism are attenuated in SERCA2 overexpressing transgenic rats. Vetter R, etal., Am J Physiol Heart Circ Physiol. 2011 Mar;300(3):H943-50. Epub 2011 Jan 7.
30. Effect of Chaiqinchengqi decoction on sarco/endoplasmic reticulum Ca2+-ATPase mRNA expression of pancreatic tissues in acute pancreatitis rats. Xue P, etal., World J Gastroenterol. 2008 Apr 21;14(15):2343-8.
31. Rats with Chronic, Stable Pulmonary Hypertension Tolerate Low Dose Sevoflurane Inhalation as Well as Normal Rats Do. Yin X, etal., PLoS One. 2016 May 4;11(5):e0154154. doi: 10.1371/journal.pone.0154154. eCollection 2016.
32. The modified Yi qi decoction protects cardiac ischemia-reperfusion induced injury in rats. Yu X, etal., BMC Complement Altern Med. 2017 Jun 21;17(1):330. doi: 10.1186/s12906-017-1829-6.
Additional References at PubMed
PMID:2844796   PMID:7929371   PMID:8406504   PMID:9295312   PMID:9788433   PMID:10441323   PMID:10441324   PMID:10441325   PMID:10587333   PMID:10809745   PMID:11121153   PMID:11244492  
PMID:11402072   PMID:11526231   PMID:11725862   PMID:11854448   PMID:11945024   PMID:12032137   PMID:12072062   PMID:12477932   PMID:12479238   PMID:12542527   PMID:12659872   PMID:12670936  
PMID:12804600   PMID:12805933   PMID:12925205   PMID:12975374   PMID:14638697   PMID:14702039   PMID:14749390   PMID:15071553   PMID:15186327   PMID:15215242   PMID:15302935   PMID:15316170  
PMID:15489334   PMID:15489859   PMID:15582584   PMID:15718407   PMID:15927817   PMID:15972723   PMID:16081076   PMID:16368801   PMID:16402920   PMID:16410239   PMID:16552539   PMID:16669348  
PMID:16675202   PMID:16754798   PMID:16766529   PMID:16899508   PMID:16958257   PMID:16965263   PMID:16973504   PMID:16987514   PMID:17009399   PMID:17081983   PMID:17110338   PMID:17116488  
PMID:17234728   PMID:17257557   PMID:17314412   PMID:17314511   PMID:17353931   PMID:17395056   PMID:17439322   PMID:17506935   PMID:17515962   PMID:17526652   PMID:17588601   PMID:17597815  
PMID:17635506   PMID:18068335   PMID:18071073   PMID:18164028   PMID:18279980   PMID:18295663   PMID:18464913   PMID:18482030   PMID:18591429   PMID:18658259   PMID:18953100   PMID:18971376  
PMID:18979109   PMID:19019082   PMID:19095005   PMID:19252085   PMID:19322201   PMID:19327826   PMID:19502158   PMID:19541629   PMID:19644701   PMID:19649297   PMID:19650915   PMID:19671701  
PMID:19913121   PMID:19962989   PMID:20139366   PMID:20204653   PMID:20223560   PMID:20423818   PMID:20473970   PMID:20528919   PMID:20586837   PMID:20628086   PMID:20716843   PMID:20857128  
PMID:20964649   PMID:21081666   PMID:21145461   PMID:21152695   PMID:21156808   PMID:21195084   PMID:21343306   PMID:21515674   PMID:21519848   PMID:21527373   PMID:21616533   PMID:21873635  
PMID:21878908   PMID:21900893   PMID:21903937   PMID:22004489   PMID:22045735   PMID:22084111   PMID:22096575   PMID:22174317   PMID:22190034   PMID:22240811   PMID:22247554   PMID:22277942  
PMID:22304920   PMID:22329366   PMID:22360692   PMID:22375059   PMID:22472004   PMID:22586326   PMID:22679139   PMID:22779921   PMID:22810586   PMID:22814319   PMID:22865885   PMID:22909361  
PMID:22939629   PMID:22990118   PMID:23024360   PMID:23055483   PMID:23066896   PMID:23229631   PMID:23254330   PMID:23337962   PMID:23356892   PMID:23438482   PMID:23455922   PMID:23464991  
PMID:23621824   PMID:23798571   PMID:23843619   PMID:23956138   PMID:24189400   PMID:24249716   PMID:24284796   PMID:24337577   PMID:24390139   PMID:24457600   PMID:24508653   PMID:24552170  
PMID:24583282   PMID:24625528   PMID:24639526   PMID:24711643   PMID:24764305   PMID:24952745   PMID:24979555   PMID:24981860   PMID:25008120   PMID:25036637   PMID:25056061   PMID:25213221  
PMID:25256005   PMID:25270119   PMID:25274773   PMID:25283811   PMID:25315684   PMID:25327883   PMID:25593322   PMID:25661196   PMID:25670202   PMID:25737280   PMID:25852190   PMID:25872913  
PMID:25880173   PMID:25921289   PMID:25959826   PMID:25996873   PMID:26051059   PMID:26186194   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26508657  
PMID:26607901   PMID:26608678   PMID:26618866   PMID:26638075   PMID:26725010   PMID:26743715   PMID:26871637   PMID:26949251   PMID:26972000   PMID:27025967   PMID:27055500   PMID:27203155  
PMID:27342126   PMID:27494721   PMID:27538371   PMID:27577212   PMID:27595213   PMID:27684187   PMID:27705803   PMID:27880917   PMID:28035777   PMID:28137758   PMID:28156030   PMID:28174265  
PMID:28298427   PMID:28330616   PMID:28339043   PMID:28515276   PMID:28533407   PMID:28648117   PMID:28685749   PMID:28712289   PMID:28890335   PMID:28902428   PMID:29028823   PMID:29053956  
PMID:29117863   PMID:29128334   PMID:29142187   PMID:29169992   PMID:29180619   PMID:29229926   PMID:29363575   PMID:29467282   PMID:29478009   PMID:29507755   PMID:29509190   PMID:29564676  
PMID:29568061   PMID:29599149   PMID:29656893   PMID:29667928   PMID:29870688   PMID:29911972   PMID:29991678   PMID:30021884   PMID:30085326   PMID:30154076   PMID:30188326   PMID:30349055  
PMID:30442662   PMID:30450560   PMID:30459231   PMID:30462309   PMID:30463901   PMID:30575818   PMID:30619736   PMID:30663125   PMID:30669930   PMID:30786847   PMID:30804502   PMID:30833792  
PMID:30948266   PMID:30995489   PMID:31010829   PMID:31046837   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31300519   PMID:31324722   PMID:31347915   PMID:31400130   PMID:31527615  
PMID:31536960   PMID:31586073   PMID:31616248   PMID:31620119   PMID:31656001   PMID:31732153   PMID:31735293   PMID:31751570   PMID:31792442   PMID:31871319   PMID:31980649   PMID:32149426  
PMID:32242872   PMID:32384912   PMID:32552912   PMID:32583474   PMID:32665550   PMID:32675243   PMID:32683582   PMID:32687490   PMID:32707033   PMID:32755452   PMID:32807901   PMID:32877691  
PMID:32913203   PMID:32938586   PMID:32946770   PMID:32973183   PMID:33005030   PMID:33022573   PMID:33024031   PMID:33060591   PMID:33144569   PMID:33194618   PMID:33239621   PMID:33301849  
PMID:33427050   PMID:33482198   PMID:33511738   PMID:33545068   PMID:33567341   PMID:33581112   PMID:33658012   PMID:33675897   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34033676  
PMID:34079125   PMID:34091597   PMID:34186245   PMID:34226595   PMID:34373451   PMID:34502015   PMID:34687317   PMID:34709727   PMID:34744521   PMID:34839354   PMID:34901782   PMID:35013218  
PMID:35079913   PMID:35140242   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35563538   PMID:35611810   PMID:35654790  
PMID:35681168   PMID:35696571   PMID:35777956   PMID:35819319   PMID:35831314   PMID:35850772   PMID:35914814   PMID:35944360   PMID:35961308   PMID:35993436   PMID:36030824   PMID:36057605  
PMID:36114006   PMID:36129980   PMID:36180527   PMID:36215168   PMID:36217030   PMID:36225252   PMID:36232890   PMID:36282215   PMID:36373674   PMID:36376293   PMID:36424410   PMID:36444643  
PMID:36517590   PMID:36574265   PMID:36584595   PMID:36610398   PMID:36722348   PMID:36779763   PMID:36834924   PMID:36876489   PMID:36912080   PMID:37132526   PMID:37195706   PMID:37291092  
PMID:37572431   PMID:37589075   PMID:37616343   PMID:37738362   PMID:37827155   PMID:37931956   PMID:38113892   PMID:38496616  


Genomics

Comparative Map Data
ATP2A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812110,280,616 - 110,351,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12110,280,756 - 110,351,093 (+)EnsemblGRCh38hg38GRCh38
GRCh3712110,719,052 - 110,788,898 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612109,203,815 - 109,273,278 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412109,182,151 - 109,251,615NCBI
Celera12110,344,773 - 110,414,642 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12107,737,670 - 107,807,502 (+)NCBIHuRef
CHM1_112110,686,837 - 110,756,707 (+)NCBICHM1_1
T2T-CHM13v2.012110,258,258 - 110,328,744 (+)NCBIT2T-CHM13v2.0
Atp2a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395122,591,576 - 122,640,288 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5122,591,576 - 122,640,288 (-)EnsemblGRCm39 Ensembl
GRCm385122,453,513 - 122,502,225 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5122,453,513 - 122,502,225 (-)EnsemblGRCm38mm10GRCm38
MGSCv375122,903,522 - 122,952,234 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365122,714,131 - 122,762,512 (-)NCBIMGSCv36mm8
Celera5119,532,083 - 119,580,718 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map562.38NCBI
Atp2a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81239,733,519 - 39,782,942 (+)NCBIGRCr8
mRatBN7.21234,072,710 - 34,122,142 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1234,072,683 - 34,122,101 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,245,140 - 35,294,551 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01235,856,569 - 35,905,979 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01234,908,881 - 34,958,289 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01239,553,903 - 39,603,326 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1239,553,903 - 39,603,326 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01241,434,651 - 41,482,924 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41235,266,600 - 35,316,237 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11235,129,987 - 35,179,584 (+)NCBI
Celera1235,744,606 - 35,793,364 (+)NCBICelera
Cytogenetic Map12q16NCBI
Atp2a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554827,233,336 - 7,295,754 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554827,233,336 - 7,295,754 (+)NCBIChiLan1.0ChiLan1.0
ATP2A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210118,347,938 - 118,415,869 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112118,344,305 - 118,412,270 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012107,857,009 - 107,924,938 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112111,249,039 - 111,316,532 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12111,246,508 - 111,311,923 (+)Ensemblpanpan1.1panPan2
ATP2A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1268,148,181 - 8,209,392 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl268,148,236 - 8,209,388 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha268,312,735 - 8,373,567 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0268,406,466 - 8,467,508 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl268,406,107 - 8,467,504 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1268,366,182 - 8,427,199 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0268,424,775 - 8,485,590 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0268,381,368 - 8,442,436 (+)NCBIUU_Cfam_GSD_1.0
Atp2a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118156,121,831 - 156,178,459 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365583,300,941 - 3,357,941 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365583,300,941 - 3,357,595 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP2A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1431,674,757 - 31,744,969 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11431,674,659 - 31,744,981 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21433,446,619 - 33,491,489 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21433,642,897 - 33,670,781 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP2A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111105,522,175 - 105,590,291 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11105,522,157 - 105,590,958 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037139,532,362 - 139,600,791 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp2a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474721,509,366 - 21,568,098 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474721,509,360 - 21,567,424 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP2A2
225 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=) single nucleotide variant ATP2A2-related condition [RCV003925534]|Acrokeratosis verruciformis of Hopf [RCV002259983]|Keratosis follicularis [RCV002259982]|not provided [RCV000949364]|not specified [RCV000517237] Chr12:110346266 [GRCh38]
Chr12:110784071 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2577C>T (p.Asp859=) single nucleotide variant not specified [RCV000518087] Chr12:110344941 [GRCh38]
Chr12:110782746 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN insertion Keratosis follicularis [RCV000019373] Chr12:110282700..110282701 [GRCh38]
Chr12:110720505..110720506 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del) microsatellite Keratosis follicularis [RCV000019374] Chr12:110342388..110342390 [GRCh38]
Chr12:110780193..110780195 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.544+1G>A single nucleotide variant Keratosis follicularis [RCV000019369] Chr12:110323073 [GRCh38]
Chr12:110760878 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.667G>C (p.Val223Leu) single nucleotide variant not provided [RCV000519343] Chr12:110327589 [GRCh38]
Chr12:110765394 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV000022449] Chr12:110340990 [GRCh38]
Chr12:110778795 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) single nucleotide variant Keratosis follicularis [RCV000019367]|not provided [RCV000414388] Chr12:110281857 [GRCh38]
Chr12:110719662 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter) single nucleotide variant Keratosis follicularis [RCV000019368] Chr12:110292122 [GRCh38]
Chr12:110729927 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2300A>G (p.Asn767Ser) single nucleotide variant Darier disease, acral hemorrhagic type [RCV000019370]|Keratosis follicularis [RCV002288512]|not provided [RCV000493249] Chr12:110342430 [GRCh38]
Chr12:110780235 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_170665.4(ATP2A2):c.803G>T (p.Cys268Phe) single nucleotide variant Darier disease, acral hemorrhagic type [RCV000019371] Chr12:110327725 [GRCh38]
Chr12:110765530 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) single nucleotide variant Keratosis follicularis [RCV000019372] Chr12:110339638 [GRCh38]
Chr12:110777443 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2682C>A (p.Tyr894Ter) single nucleotide variant Darier disease, segmental [RCV000019375] Chr12:110345323 [GRCh38]
Chr12:110783128 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2305G>A (p.Gly769Arg) single nucleotide variant Darier disease, segmental [RCV000019376]|not provided [RCV000442972] Chr12:110342435 [GRCh38]
Chr12:110780240 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV000019377]|not provided [RCV001650836] Chr12:110340702 [GRCh38]
Chr12:110778507 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) single nucleotide variant Keratosis follicularis [RCV000019378]|not provided [RCV001729353] Chr12:110296666 [GRCh38]
Chr12:110734471 [GRCh37]
Chr12:12q24.11		 pathogenic
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
NM_001681.3(ATP2A2):c.1925G>A (p.Gly642Glu) single nucleotide variant Malignant melanoma [RCV000069811] Chr12:110340822 [GRCh38]
Chr12:110778627 [GRCh37]
Chr12:109263010 [NCBI36]
Chr12:12q24.11		 not provided
NM_001681.3(ATP2A2):c.2671G>T (p.Glu891Ter) single nucleotide variant Malignant melanoma [RCV000062395] Chr12:110345312 [GRCh38]
Chr12:110783117 [GRCh37]
Chr12:109267500 [NCBI36]
Chr12:12q24.11		 not provided
NM_170665.4(ATP2A2):c.2299A>G (p.Asn767Asp) single nucleotide variant not provided [RCV000657910] Chr12:110342429 [GRCh38]
Chr12:110780234 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.131A>G (p.Glu44Gly) single nucleotide variant not provided [RCV000122590] Chr12:110282616 [GRCh38]
Chr12:110720421 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg) single nucleotide variant Keratosis follicularis [RCV001291644] Chr12:110340821 [GRCh38]
Chr12:110778626 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_170665.4(ATP2A2):c.1912A>G (p.Ile638Val) single nucleotide variant Keratosis follicularis [RCV000282338] Chr12:110340809 [GRCh38]
Chr12:110778614 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_170665.4(ATP2A2):c.1420-8C>G single nucleotide variant ATP2A2-related condition [RCV003920269]|Acrokeratosis verruciformis of Hopf [RCV002259839]|Keratosis follicularis [RCV000267776]|not provided [RCV000953488] Chr12:110339273 [GRCh38]
Chr12:110777078 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=) single nucleotide variant ATP2A2-related condition [RCV003910131]|Acrokeratosis verruciformis of Hopf [RCV002259837]|Keratosis follicularis [RCV000321608]|not provided [RCV000710696] Chr12:110332668 [GRCh38]
Chr12:110770473 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) single nucleotide variant Keratosis follicularis [RCV000372229] Chr12:110340775 [GRCh38]
Chr12:110778580 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1122T>C (p.Gly374=) single nucleotide variant Keratosis follicularis [RCV000271168] Chr12:110332623 [GRCh38]
Chr12:110770428 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.*4599G>A single nucleotide variant Keratosis follicularis [RCV000288269] Chr12:110351069 [GRCh38]
Chr12:110788874 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.137-12T>C single nucleotide variant Keratosis follicularis [RCV000349921]|not provided [RCV002520785] Chr12:110282701 [GRCh38]
Chr12:110720506 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.-15C>T single nucleotide variant Keratosis follicularis [RCV000378831] Chr12:110281775 [GRCh38]
Chr12:110719580 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2521+4A>C single nucleotide variant Keratosis follicularis [RCV000289629] Chr12:110343438 [GRCh38]
Chr12:110781243 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2742-6C>T single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259843]|Keratosis follicularis [RCV000309438]|not provided [RCV000923714] Chr12:110345995 [GRCh38]
Chr12:110783800 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259842]|Keratosis follicularis [RCV000402722]|not provided [RCV000967289]|not specified [RCV000516338] Chr12:110345269 [GRCh38]
Chr12:110783074 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259840]|Keratosis follicularis [RCV000292724]|not provided [RCV001653510] Chr12:110342302 [GRCh38]
Chr12:110780107 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.*3875G>A single nucleotide variant Keratosis follicularis [RCV000260425] Chr12:110350345 [GRCh38]
Chr12:110788150 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_170665.4(ATP2A2):c.*4580C>T single nucleotide variant Keratosis follicularis [RCV000382685]|not provided [RCV003391083] Chr12:110351050 [GRCh38]
Chr12:110788855 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.*3983A>C single nucleotide variant Keratosis follicularis [RCV000261688] Chr12:110350453 [GRCh38]
Chr12:110788258 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259835]|Keratosis follicularis [RCV000334788]|not provided [RCV002056262]|not specified [RCV000444637] Chr12:110281870 [GRCh38]
Chr12:110719675 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.*4463A>G single nucleotide variant Keratosis follicularis [RCV000385481] Chr12:110350933 [GRCh38]
Chr12:110788738 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-500T>C single nucleotide variant Keratosis follicularis [RCV000275884] Chr12:110281290 [GRCh38]
Chr12:110719095 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2860-10TG[2] microsatellite Acrokeratosis verruciformis of Hopf [RCV002259844]|Keratosis follicularis [RCV000359763]|not provided [RCV000960169] Chr12:110346191..110346192 [GRCh38]
Chr12:110783996..110783997 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.-403C>G single nucleotide variant Keratosis follicularis [RCV000276543] Chr12:110281387 [GRCh38]
Chr12:110719192 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.-10C>G single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259834]|Acrokeratosis verruciformis of Hopf [RCV002494959]|Keratosis follicularis [RCV000279704]|not provided [RCV003391082]|not specified [RCV000434109] Chr12:110281780 [GRCh38]
Chr12:110719585 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.*4495_*4496del deletion Keratosis follicularis [RCV000277826] Chr12:110350965..110350966 [GRCh38]
Chr12:110788770..110788771 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.136+11C>T single nucleotide variant Keratosis follicularis [RCV000280943] Chr12:110282632 [GRCh38]
Chr12:110720437 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.1758T>C (p.Tyr586=) single nucleotide variant Keratosis follicularis [RCV000317603]|not provided [RCV003718170] Chr12:110339718 [GRCh38]
Chr12:110777523 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_170665.4(ATP2A2):c.*3880C>T single nucleotide variant Keratosis follicularis [RCV000296859] Chr12:110350350 [GRCh38]
Chr12:110788155 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1983C>T (p.Asn661=) single nucleotide variant Inborn genetic diseases [RCV003258755]|Keratosis follicularis [RCV000318715] Chr12:110340880 [GRCh38]
Chr12:110778685 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.1096-12C>G single nucleotide variant Keratosis follicularis [RCV000365671] Chr12:110332585 [GRCh38]
Chr12:110770390 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met) single nucleotide variant Keratosis follicularis [RCV000390833]|not provided [RCV002056265]|not specified [RCV002248516] Chr12:110346286 [GRCh38]
Chr12:110784091 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_170665.4(ATP2A2):c.291_292del (p.Leu98fs) microsatellite not provided [RCV000280425] Chr12:110292089..110292090 [GRCh38]
Chr12:110729894..110729895 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000282396] Chr12:110281790 [GRCh38]
Chr12:110719595 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2556A>C (p.Ala852=) single nucleotide variant Keratosis follicularis [RCV000344633]|not provided [RCV000926034] Chr12:110344920 [GRCh38]
Chr12:110782725 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259836]|Acrokeratosis verruciformis of Hopf [RCV002502210]|Keratosis follicularis [RCV000369188]|not provided [RCV000891749]|not specified [RCV000424919] Chr12:110296601 [GRCh38]
Chr12:110734406 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_170665.4(ATP2A2):c.-311G>T single nucleotide variant Keratosis follicularis [RCV000272969] Chr12:110281479 [GRCh38]
Chr12:110719284 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*3823A>C single nucleotide variant Keratosis follicularis [RCV000306120] Chr12:110350293 [GRCh38]
Chr12:110788098 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.-274G>C single nucleotide variant Keratosis follicularis [RCV000327914] Chr12:110281516 [GRCh38]
Chr12:110719321 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2058del (p.Ile686fs) deletion not provided [RCV000342838] Chr12:110340955 [GRCh38]
Chr12:110778760 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.*4047A>G single nucleotide variant Keratosis follicularis [RCV000330937] Chr12:110350517 [GRCh38]
Chr12:110788322 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.-240G>A single nucleotide variant Keratosis follicularis [RCV000377914] Chr12:110281550 [GRCh38]
Chr12:110719355 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe) single nucleotide variant Keratosis follicularis [RCV000403131]|not provided [RCV002522220] Chr12:110281883 [GRCh38]
Chr12:110719688 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_170665.4(ATP2A2):c.*4578G>A single nucleotide variant Keratosis follicularis [RCV000332832] Chr12:110351048 [GRCh38]
Chr12:110788853 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259838]|Keratosis follicularis [RCV000357731]|not provided [RCV000902604] Chr12:110334047 [GRCh38]
Chr12:110771852 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2319-12G>A single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259841]|Keratosis follicularis [RCV000407839]|not provided [RCV002056264] Chr12:110343220 [GRCh38]
Chr12:110781025 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.*3837C>T single nucleotide variant Keratosis follicularis [RCV000360903] Chr12:110350307 [GRCh38]
Chr12:110788112 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002487365]|Keratosis follicularis [RCV000387100]|not provided [RCV002520786] Chr12:110340955 [GRCh38]
Chr12:110778760 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.-324G>A single nucleotide variant Keratosis follicularis [RCV000362871] Chr12:110281466 [GRCh38]
Chr12:110719271 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.218T>C (p.Phe73Ser) single nucleotide variant not provided [RCV000489097] Chr12:110282794 [GRCh38]
Chr12:110720599 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2735T>C (p.Leu912Pro) single nucleotide variant not provided [RCV000489369] Chr12:110345376 [GRCh38]
Chr12:110783181 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.-482C>T single nucleotide variant Keratosis follicularis [RCV000314649] Chr12:110281308 [GRCh38]
Chr12:110719113 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.303T>C (p.Asn101=) single nucleotide variant Keratosis follicularis [RCV000314901] Chr12:110292103 [GRCh38]
Chr12:110729908 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4608TCTAT[1] microsatellite Keratosis follicularis [RCV000347815] Chr12:110351078..110351082 [GRCh38]
Chr12:110788883..110788887 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-167C>T single nucleotide variant Keratosis follicularis [RCV000283425] Chr12:110281623 [GRCh38]
Chr12:110719428 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.555C>G (p.Val185=) single nucleotide variant Keratosis follicularis [RCV000306364] Chr12:110326400 [GRCh38]
Chr12:110764205 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-476C>T single nucleotide variant Keratosis follicularis [RCV000367036] Chr12:110281314 [GRCh38]
Chr12:110719119 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.219+15del deletion Keratosis follicularis [RCV000404984]|not provided [RCV002056263] Chr12:110282804 [GRCh38]
Chr12:110720609 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_170665.4(ATP2A2):c.2185G>A (p.Ala729Thr) single nucleotide variant Keratosis follicularis [RCV000352416] Chr12:110342315 [GRCh38]
Chr12:110780120 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-75C>T single nucleotide variant Keratosis follicularis [RCV000324432] Chr12:110281715 [GRCh38]
Chr12:110719520 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*3918G>T single nucleotide variant Keratosis follicularis [RCV000356513] Chr12:110350388 [GRCh38]
Chr12:110788193 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-335C>A single nucleotide variant Keratosis follicularis [RCV000326853] Chr12:110281455 [GRCh38]
Chr12:110719260 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.544+10A>G single nucleotide variant Keratosis follicularis [RCV000395985] Chr12:110323082 [GRCh38]
Chr12:110760887 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1543-2A>C single nucleotide variant not provided [RCV000414137] Chr12:110339501 [GRCh38]
Chr12:110777306 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.467G>T (p.Gly156Val) single nucleotide variant not provided [RCV000414184] Chr12:110322995 [GRCh38]
Chr12:110760800 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1185-1G>A single nucleotide variant not provided [RCV000444570] Chr12:110333180 [GRCh38]
Chr12:110770985 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.220-18G>A single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259942]|Keratosis follicularis [RCV002259941]|not provided [RCV002061339]|not specified [RCV000420970] Chr12:110292002 [GRCh38]
Chr12:110729807 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.2384A>G (p.Asn795Ser) single nucleotide variant not provided [RCV000417773] Chr12:110343297 [GRCh38]
Chr12:110781102 [GRCh37]
Chr12:12q24.11		 pathogenic|uncertain significance
NM_170665.4(ATP2A2):c.1096-16C>T single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002259944]|Acrokeratosis verruciformis of Hopf [RCV002488901]|Keratosis follicularis [RCV002259943]|not provided [RCV002061656]|not specified [RCV000435648] Chr12:110332581 [GRCh38]
Chr12:110770386 [GRCh37]
Chr12:12q24.11		 benign|likely benign
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1847C>T (p.Ala616Val) single nucleotide variant not provided [RCV000420542] Chr12:110340744 [GRCh38]
Chr12:110778549 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1372G>T (p.Glu458Ter) single nucleotide variant not provided [RCV000480737] Chr12:110334096 [GRCh38]
Chr12:110771901 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met) single nucleotide variant Keratosis follicularis [RCV001114683]|not provided [RCV000483950] Chr12:110346056 [GRCh38]
Chr12:110783861 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2984_2987dup (p.Cys997fs) duplication not provided [RCV000482943] Chr12:110346323..110346324 [GRCh38]
Chr12:110784128..110784129 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1429C>T (p.Gln477Ter) single nucleotide variant not provided [RCV000483431] Chr12:110339290 [GRCh38]
Chr12:110777095 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.545-12C>G single nucleotide variant not provided [RCV000482136] Chr12:110326378 [GRCh38]
Chr12:110764183 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_170665.4(ATP2A2):c.363A>T (p.Glu121Asp) single nucleotide variant not provided [RCV000494133] Chr12:110296637 [GRCh38]
Chr12:110734442 [GRCh37]
Chr12:12q24.11		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_170665.4(ATP2A2):c.1953T>C (p.Ala651=) single nucleotide variant not provided [RCV003825441] Chr12:110340850 [GRCh38]
Chr12:110778655 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.545-7C>T single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002260041]|Keratosis follicularis [RCV002260040]|not provided [RCV000710697] Chr12:110326383 [GRCh38]
Chr12:110764188 [GRCh37]
Chr12:12q24.11		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.11(chr12:110718830-110719468)x0 copy number loss not provided [RCV000750563] Chr12:110718830..110719468 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1453C>T (p.Leu485=) single nucleotide variant not provided [RCV000991569] Chr12:110339314 [GRCh38]
Chr12:110777119 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe) single nucleotide variant Keratosis follicularis [RCV003239284] Chr12:110327935 [GRCh38]
Chr12:110765740 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2387T>C (p.Leu796Pro) single nucleotide variant not provided [RCV000994980] Chr12:110343300 [GRCh38]
Chr12:110781105 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.129T>A (p.Ala43=) single nucleotide variant not provided [RCV000967288] Chr12:110282614 [GRCh38]
Chr12:110720419 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1288-9C>T single nucleotide variant not provided [RCV000925409] Chr12:110334003 [GRCh38]
Chr12:110771808 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.261C>A (p.Ala87=) single nucleotide variant not provided [RCV000904897] Chr12:110292061 [GRCh38]
Chr12:110729866 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) single nucleotide variant Keratosis follicularis [RCV000995501] Chr12:110343294 [GRCh38]
Chr12:110781099 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2106T>C (p.Asp702=) single nucleotide variant not provided [RCV000921308] Chr12:110342236 [GRCh38]
Chr12:110780041 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.931C>T (p.Leu311=) single nucleotide variant not provided [RCV000924362] Chr12:110327853 [GRCh38]
Chr12:110765658 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.783C>T (p.Ser261=) single nucleotide variant not provided [RCV000918798] Chr12:110327705 [GRCh38]
Chr12:110765510 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2992G>T (p.Val998Leu) single nucleotide variant not provided [RCV000942180] Chr12:110346333 [GRCh38]
Chr12:110784138 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1149C>T (p.Thr383=) single nucleotide variant not provided [RCV000897797] Chr12:110332650 [GRCh38]
Chr12:110770455 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2748C>T (p.Ser916=) single nucleotide variant not provided [RCV000893658] Chr12:110346007 [GRCh38]
Chr12:110783812 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.2697G>A (p.Ala899=) single nucleotide variant not provided [RCV000916084] Chr12:110345338 [GRCh38]
Chr12:110783143 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.506A>G (p.Lys169Arg) single nucleotide variant Keratosis follicularis [RCV001114574] Chr12:110323034 [GRCh38]
Chr12:110760839 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.464-70C>A single nucleotide variant Inborn genetic diseases [RCV002549719]|Keratosis follicularis [RCV000988907]|not specified [RCV001529068] Chr12:110322922 [GRCh38]
Chr12:110760727 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.3011C>A (p.Ser1004Tyr) single nucleotide variant not provided [RCV000978392] Chr12:110346352 [GRCh38]
Chr12:110784157 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2823A>C (p.Ser941=) single nucleotide variant not provided [RCV000942492] Chr12:110346082 [GRCh38]
Chr12:110783887 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2824C>T (p.Leu942Phe) single nucleotide variant Inborn genetic diseases [RCV002558140]|Keratosis follicularis [RCV001114684] Chr12:110346083 [GRCh38]
Chr12:110783888 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1287+3A>G single nucleotide variant ATP2A2-related condition [RCV003918619]|Acrokeratosis verruciformis of Hopf [RCV002260129]|Keratosis follicularis [RCV001108949]|not provided [RCV000991568] Chr12:110333286 [GRCh38]
Chr12:110771091 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.2778del (p.Trp927fs) deletion not provided [RCV001008418] Chr12:110346032 [GRCh38]
Chr12:110783837 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1783T>C (p.Cys595Arg) single nucleotide variant not provided [RCV000994979] Chr12:110340680 [GRCh38]
Chr12:110778485 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV001196481] Chr12:110327610 [GRCh38]
Chr12:110765415 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.136+21_136+22del deletion Acrokeratosis verruciformis of Hopf [RCV001197471]|not provided [RCV002069283] Chr12:110282641..110282642 [GRCh38]
Chr12:110720446..110720447 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.-512C>G single nucleotide variant Keratosis follicularis [RCV001110455] Chr12:110281278 [GRCh38]
Chr12:110719083 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-458G>A single nucleotide variant Keratosis follicularis [RCV001111199] Chr12:110281332 [GRCh38]
Chr12:110719137 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1569G>A (p.Arg523=) single nucleotide variant Keratosis follicularis [RCV001111297] Chr12:110339529 [GRCh38]
Chr12:110777334 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala) single nucleotide variant Keratosis follicularis [RCV001111299] Chr12:110340701 [GRCh38]
Chr12:110778506 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4256G>A single nucleotide variant Keratosis follicularis [RCV001111394] Chr12:110350726 [GRCh38]
Chr12:110788531 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4283G>A single nucleotide variant Keratosis follicularis [RCV001111395] Chr12:110350753 [GRCh38]
Chr12:110788558 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4428C>T single nucleotide variant Keratosis follicularis [RCV001111396] Chr12:110350898 [GRCh38]
Chr12:110788703 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.545-14C>T single nucleotide variant Keratosis follicularis [RCV001108946] Chr12:110326376 [GRCh38]
Chr12:110764181 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2116G>A (p.Asp706Asn) single nucleotide variant not provided [RCV003127085] Chr12:110342246 [GRCh38]
Chr12:110780051 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) single nucleotide variant ATP2A2-related condition [RCV003931208]|not provided [RCV001572950] Chr12:110346405 [GRCh38]
Chr12:110784210 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NC_000012.11:g.(?_110729805)_(110729949_?)del deletion not provided [RCV003107445] Chr12:110729805..110729949 [GRCh37]
Chr12:12q24.11		 pathogenic
NC_000012.11:g.(?_110646956)_(110765842_?)del deletion not provided [RCV003107446] Chr12:110646956..110765842 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2353G>T (p.Ala785Ser) single nucleotide variant not provided [RCV001573738] Chr12:110343266 [GRCh38]
Chr12:110781071 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2778dup (p.Trp927fs) duplication not provided [RCV001550124] Chr12:110346031..110346032 [GRCh38]
Chr12:110783836..110783837 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2039C>T (p.Pro680Leu) single nucleotide variant not provided [RCV001550888] Chr12:110340936 [GRCh38]
Chr12:110778741 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2971C>T (p.Leu991=) single nucleotide variant not provided [RCV000900707] Chr12:110346312 [GRCh38]
Chr12:110784117 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2115C>T (p.Asn705=) single nucleotide variant not provided [RCV000907933] Chr12:110342245 [GRCh38]
Chr12:110780050 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1056G>A (p.Lys352=) single nucleotide variant not provided [RCV000938829] Chr12:110327978 [GRCh38]
Chr12:110765783 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2301C>T (p.Asn767=) single nucleotide variant not provided [RCV000932744] Chr12:110342431 [GRCh38]
Chr12:110780236 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2769G>A (p.Arg923=) single nucleotide variant not provided [RCV000976158] Chr12:110346028 [GRCh38]
Chr12:110783833 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2103C>T (p.Gly701=) single nucleotide variant not provided [RCV000880652] Chr12:110342233 [GRCh38]
Chr12:110780038 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV002260119]|Keratosis follicularis [RCV001113310]|not provided [RCV000957119] Chr12:110342332 [GRCh38]
Chr12:110780137 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.105A>T (p.Arg35Ser) single nucleotide variant not provided [RCV000994978] Chr12:110281894 [GRCh38]
Chr12:110719699 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4140C>T single nucleotide variant Keratosis follicularis [RCV001111392] Chr12:110350610 [GRCh38]
Chr12:110788415 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*4203A>G single nucleotide variant Keratosis follicularis [RCV001111393] Chr12:110350673 [GRCh38]
Chr12:110788478 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala) single nucleotide variant Keratosis follicularis [RCV001108947] Chr12:110326428 [GRCh38]
Chr12:110764233 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2859+11G>A single nucleotide variant Keratosis follicularis [RCV001109052] Chr12:110346129 [GRCh38]
Chr12:110783934 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*3891G>A single nucleotide variant Keratosis follicularis [RCV001109054] Chr12:110350361 [GRCh38]
Chr12:110788166 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-37G>C single nucleotide variant Keratosis follicularis [RCV001113211] Chr12:110281753 [GRCh38]
Chr12:110719558 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-206C>T single nucleotide variant Keratosis follicularis [RCV001113209] Chr12:110281584 [GRCh38]
Chr12:110719389 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-34G>A single nucleotide variant Keratosis follicularis [RCV001113212] Chr12:110281756 [GRCh38]
Chr12:110719561 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2059G>A (p.Val687Ile) single nucleotide variant Keratosis follicularis [RCV001113309]|not provided [RCV002556211] Chr12:110340956 [GRCh38]
Chr12:110778761 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.*4572A>G single nucleotide variant Keratosis follicularis [RCV001113401] Chr12:110351042 [GRCh38]
Chr12:110788847 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.*3881G>A single nucleotide variant Keratosis follicularis [RCV001109053] Chr12:110350351 [GRCh38]
Chr12:110788156 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-543A>G single nucleotide variant Keratosis follicularis [RCV001110454] Chr12:110281247 [GRCh38]
Chr12:110719052 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-469G>C single nucleotide variant Keratosis follicularis [RCV001111198] Chr12:110281321 [GRCh38]
Chr12:110719126 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-391C>T single nucleotide variant Keratosis follicularis [RCV001111200] Chr12:110281399 [GRCh38]
Chr12:110719204 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1473A>G (p.Arg491=) single nucleotide variant Keratosis follicularis [RCV001111296] Chr12:110339334 [GRCh38]
Chr12:110777139 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1627A>G (p.Lys543Glu) single nucleotide variant Keratosis follicularis [RCV001111298] Chr12:110339587 [GRCh38]
Chr12:110777392 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1096-43T>A single nucleotide variant not provided [RCV001714356] Chr12:110332554 [GRCh38]
Chr12:110770359 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.2530G>A (p.Gly844Ser) single nucleotide variant not provided [RCV001588161] Chr12:110344894 [GRCh38]
Chr12:110782699 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.-165C>G single nucleotide variant Keratosis follicularis [RCV001113210] Chr12:110281625 [GRCh38]
Chr12:110719430 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2318+3A>G single nucleotide variant Inborn genetic diseases [RCV002556247]|Keratosis follicularis [RCV001114682] Chr12:110342451 [GRCh38]
Chr12:110780256 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2295G>A (p.Ser765=) single nucleotide variant ATP2A2-related condition [RCV003973081]|Keratosis follicularis [RCV001113311]|not provided [RCV003727866] Chr12:110342425 [GRCh38]
Chr12:110780230 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.1185-9T>C single nucleotide variant Keratosis follicularis [RCV001108948] Chr12:110333172 [GRCh38]
Chr12:110770977 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_170665.4(ATP2A2):c.1522A>G (p.Met508Val) single nucleotide variant not provided [RCV001580881] Chr12:110339383 [GRCh38]
Chr12:110777188 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2461del (p.Arg821fs) deletion not provided [RCV001268043] Chr12:110343371 [GRCh38]
Chr12:110781176 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2165dup (p.Thr723fs) duplication not provided [RCV001268521] Chr12:110342293..110342294 [GRCh38]
Chr12:110780098..110780099 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.544_545insAACCCGCTTAG (p.Gly182delinsGluProAlaTer) insertion not provided [RCV001269988] Chr12:110323070..110323071 [GRCh38]
Chr12:110760875..110760876 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1552G>T (p.Glu518Ter) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV001330621] Chr12:110339512 [GRCh38]
Chr12:110777317 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val) single nucleotide variant Inborn genetic diseases [RCV002547607]|not provided [RCV001355396] Chr12:110332597 [GRCh38]
Chr12:110770402 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_170665.4(ATP2A2):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV001457330] Chr12:110292107 [GRCh38]
Chr12:110729912 [GRCh37]
Chr12:12q24.11		 likely benign
NC_000012.11:g.(?_110719595)_(110720600_?)del deletion not provided [RCV001386824] Chr12:110719595..110720600 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.348del (p.Ile116fs) deletion not provided [RCV001383390] Chr12:110296622 [GRCh38]
Chr12:110734427 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) single nucleotide variant Keratosis follicularis [RCV001420559] Chr12:110340953 [GRCh38]
Chr12:110778758 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2281C>T (p.Arg761Cys) single nucleotide variant not provided [RCV001765004] Chr12:110342411 [GRCh38]
Chr12:110780216 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2216T>A (p.Phe739Tyr) single nucleotide variant not provided [RCV001752109] Chr12:110342346 [GRCh38]
Chr12:110780151 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2560del (p.Trp854fs) deletion not provided [RCV001785194] Chr12:110344924 [GRCh38]
Chr12:110782729 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2777C>G (p.Pro926Arg) single nucleotide variant not provided [RCV001758066] Chr12:110346036 [GRCh38]
Chr12:110783841 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) single nucleotide variant Acrokeratosis verruciformis of Hopf [RCV001839191] Chr12:110340927 [GRCh38]
Chr12:110778732 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110628705)_(110788110_?)dup duplication not provided [RCV001982407] Chr12:110628705..110788110 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1419+32C>G single nucleotide variant not provided [RCV001991078] Chr12:110334175 [GRCh38]
Chr12:110771980 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_170665.4(ATP2A2):c.2847C>T (p.Val949=) single nucleotide variant not provided [RCV002185861] Chr12:110346106 [GRCh38]
Chr12:110783911 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2860-19C>T single nucleotide variant not provided [RCV002140850] Chr12:110346182 [GRCh38]
Chr12:110783987 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2741+10C>T single nucleotide variant not provided [RCV002161817] Chr12:110345392 [GRCh38]
Chr12:110783197 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.710A>G (p.Asp237Gly) single nucleotide variant not provided [RCV003231992] Chr12:110327632 [GRCh38]
Chr12:110765437 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002260825] Chr12:110281790 [GRCh38]
Chr12:110719595 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.704T>A (p.Ile235Asn) single nucleotide variant not provided [RCV003236165] Chr12:110327626 [GRCh38]
Chr12:110765431 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2597_2599del (p.Phe866del) deletion not provided [RCV002726774] Chr12:110344959..110344961 [GRCh38]
Chr12:110782764..110782766 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2071C>A (p.Gln691Lys) single nucleotide variant not provided [RCV002305254] Chr12:110340968 [GRCh38]
Chr12:110778773 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.579C>T (p.Pro193=) single nucleotide variant not provided [RCV003099038] Chr12:110326424 [GRCh38]
Chr12:110764229 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1856G>A (p.Arg619Gln) single nucleotide variant Inborn genetic diseases [RCV002865104] Chr12:110340753 [GRCh38]
Chr12:110778558 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.464-12T>C single nucleotide variant not provided [RCV002511742] Chr12:110322980 [GRCh38]
Chr12:110760785 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1978C>T (p.Leu660Phe) single nucleotide variant Inborn genetic diseases [RCV002858989] Chr12:110340875 [GRCh38]
Chr12:110778680 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1543-17A>G single nucleotide variant not provided [RCV002730092] Chr12:110339486 [GRCh38]
Chr12:110777291 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1150A>G (p.Ile384Val) single nucleotide variant Inborn genetic diseases [RCV002818272] Chr12:110332651 [GRCh38]
Chr12:110770456 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.463+9_463+10del deletion not provided [RCV002949683] Chr12:110296745..110296746 [GRCh38]
Chr12:110734550..110734551 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.12G>T (p.Ala4=) single nucleotide variant not provided [RCV002694781] Chr12:110281801 [GRCh38]
Chr12:110719606 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.1964G>A (p.Arg655Gln) single nucleotide variant Inborn genetic diseases [RCV002868302] Chr12:110340861 [GRCh38]
Chr12:110778666 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2697G>T (p.Ala899=) single nucleotide variant ATP2A2-related condition [RCV003961186]|not provided [RCV002886656] Chr12:110345338 [GRCh38]
Chr12:110783143 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_170665.4(ATP2A2):c.378G>C (p.Met126Ile) single nucleotide variant Inborn genetic diseases [RCV002707530] Chr12:110296652 [GRCh38]
Chr12:110734457 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1184+11del deletion not provided [RCV002667943] Chr12:110332694 [GRCh38]
Chr12:110770499 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1120G>C (p.Gly374Arg) single nucleotide variant Inborn genetic diseases [RCV002919647] Chr12:110332621 [GRCh38]
Chr12:110770426 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2063A>G (p.Glu688Gly) single nucleotide variant not provided [RCV003041797] Chr12:110340960 [GRCh38]
Chr12:110778765 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1096-10C>T single nucleotide variant not provided [RCV002594559] Chr12:110332587 [GRCh38]
Chr12:110770392 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1822T>G (p.Ser608Ala) single nucleotide variant not provided [RCV002572297] Chr12:110340719 [GRCh38]
Chr12:110778524 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2787C>T (p.Asn929=) single nucleotide variant not provided [RCV002596538] Chr12:110346046 [GRCh38]
Chr12:110783851 [GRCh37]
Chr12:12q24.11		 benign
NM_170665.4(ATP2A2):c.580G>A (p.Val194Ile) single nucleotide variant Inborn genetic diseases [RCV002915280] Chr12:110326425 [GRCh38]
Chr12:110764230 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.544+13T>C single nucleotide variant not provided [RCV002600427] Chr12:110323085 [GRCh38]
Chr12:110760890 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2860-9G>A single nucleotide variant not provided [RCV002599658] Chr12:110346192 [GRCh38]
Chr12:110783997 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1955T>A (p.Phe652Tyr) single nucleotide variant Inborn genetic diseases [RCV002939176] Chr12:110340852 [GRCh38]
Chr12:110778657 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2939A>T (p.Asp980Val) single nucleotide variant not provided [RCV003061815] Chr12:110346280 [GRCh38]
Chr12:110784085 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.2017C>T (p.Arg673Cys) single nucleotide variant Inborn genetic diseases [RCV002935919] Chr12:110340914 [GRCh38]
Chr12:110778719 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2407G>A (p.Ala803Thr) single nucleotide variant not provided [RCV003062550] Chr12:110343320 [GRCh38]
Chr12:110781125 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.533C>T (p.Ser178Leu) single nucleotide variant not provided [RCV003087397] Chr12:110323061 [GRCh38]
Chr12:110760866 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2426A>T (p.Asn809Ile) single nucleotide variant not provided [RCV003062551] Chr12:110343339 [GRCh38]
Chr12:110781144 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.137-6T>C single nucleotide variant not provided [RCV002578397] Chr12:110282707 [GRCh38]
Chr12:110720512 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2827C>T (p.His943Tyr) single nucleotide variant Inborn genetic diseases [RCV002723533] Chr12:110346086 [GRCh38]
Chr12:110783891 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2522-1G>C single nucleotide variant not provided [RCV002676699] Chr12:110344885 [GRCh38]
Chr12:110782690 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.484G>A (p.Asp162Asn) single nucleotide variant not provided [RCV003228271] Chr12:110323012 [GRCh38]
Chr12:110760817 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.119-8_119-2del microsatellite not provided [RCV003136622] Chr12:110282589..110282595 [GRCh38]
Chr12:110720394..110720400 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1058C>G (p.Thr353Ser) single nucleotide variant not provided [RCV003225578] Chr12:110327980 [GRCh38]
Chr12:110765785 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2631G>T (p.Glu877Asp) single nucleotide variant Inborn genetic diseases [RCV003211440] Chr12:110345272 [GRCh38]
Chr12:110783077 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1665C>T (p.Ser555=) single nucleotide variant not provided [RCV003391997] Chr12:110339625 [GRCh38]
Chr12:110777430 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1010del (p.Pro337fs) deletion Keratosis follicularis [RCV003388895] Chr12:110327930 [GRCh38]
Chr12:110765735 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1484C>T (p.Ser495Leu) single nucleotide variant ATP2A2-related condition [RCV003402163] Chr12:110339345 [GRCh38]
Chr12:110777150 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.392G>T (p.Arg131Leu) single nucleotide variant not provided [RCV003442347] Chr12:110296666 [GRCh38]
Chr12:110734471 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1910G>A (p.Arg637His) single nucleotide variant not specified [RCV003489703] Chr12:110340807 [GRCh38]
Chr12:110778612 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.428_429del (p.Lys143fs) deletion not provided [RCV003575641] Chr12:110296701..110296702 [GRCh38]
Chr12:110734506..110734507 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1348del (p.Glu450fs) deletion not provided [RCV003686863] Chr12:110334072 [GRCh38]
Chr12:110771877 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.1061G>A (p.Gly354Asp) single nucleotide variant not provided [RCV003694953] Chr12:110327983 [GRCh38]
Chr12:110765788 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.434_435del (p.Ile145fs) deletion not provided [RCV003489328] Chr12:110296707..110296708 [GRCh38]
Chr12:110734512..110734513 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1653G>A (p.Trp551Ter) single nucleotide variant not provided [RCV003689113] Chr12:110339613 [GRCh38]
Chr12:110777418 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.479C>T (p.Pro160Leu) single nucleotide variant not provided [RCV003557783] Chr12:110323007 [GRCh38]
Chr12:110760812 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.547G>A (p.Glu183Lys) single nucleotide variant not provided [RCV003557784] Chr12:110326392 [GRCh38]
Chr12:110764197 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.2104G>A (p.Asp702Asn) single nucleotide variant not provided [RCV003557787] Chr12:110342234 [GRCh38]
Chr12:110780039 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.219+16T>C single nucleotide variant not provided [RCV003812098] Chr12:110282811 [GRCh38]
Chr12:110720616 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2139C>T (p.Ala713=) single nucleotide variant not provided [RCV003833139] Chr12:110342269 [GRCh38]
Chr12:110780074 [GRCh37]
Chr12:12q24.11		 benign
NC_000012.12:g.110282602AG[1] microsatellite not provided [RCV003557782] Chr12:110282602..110282603 [GRCh38]
Chr12:110720407..110720408 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.667G>A (p.Val223Met) single nucleotide variant not provided [RCV003557786] Chr12:110327589 [GRCh38]
Chr12:110765394 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.2321T>A (p.Ile774Asn) single nucleotide variant not provided [RCV003701753] Chr12:110343234 [GRCh38]
Chr12:110781039 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1645C>T (p.Arg549Ter) single nucleotide variant not provided [RCV003680567] Chr12:110339605 [GRCh38]
Chr12:110777410 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_170665.4(ATP2A2):c.908C>T (p.Ala303Val) single nucleotide variant not provided [RCV003566191] Chr12:110327830 [GRCh38]
Chr12:110765635 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.371C>T (p.Pro124Leu) single nucleotide variant not provided [RCV003685112] Chr12:110296645 [GRCh38]
Chr12:110734450 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.531G>A (p.Gln177=) single nucleotide variant not provided [RCV003844965] Chr12:110323059 [GRCh38]
Chr12:110760864 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2788A>G (p.Ile930Val) single nucleotide variant not provided [RCV003684125] Chr12:110346047 [GRCh38]
Chr12:110783852 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1008C>G (p.Leu336=) single nucleotide variant not provided [RCV003720302] Chr12:110327930 [GRCh38]
Chr12:110765735 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2741+16C>T single nucleotide variant not provided [RCV003685251] Chr12:110345398 [GRCh38]
Chr12:110783203 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2098-20A>G single nucleotide variant not provided [RCV003820881] Chr12:110342208 [GRCh38]
Chr12:110780013 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2310A>G (p.Glu770=) single nucleotide variant not provided [RCV003735844] Chr12:110342440 [GRCh38]
Chr12:110780245 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.1761G>A (p.Glu587=) single nucleotide variant not provided [RCV003704544] Chr12:110339721 [GRCh38]
Chr12:110777526 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_170665.4(ATP2A2):c.1827C>T (p.Ser609=) single nucleotide variant not provided [RCV003848446] Chr12:110340724 [GRCh38]
Chr12:110778529 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.867C>T (p.Ile289=) single nucleotide variant ATP2A2-related condition [RCV003951819] Chr12:110327789 [GRCh38]
Chr12:110765594 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2119G>C (p.Ala707Pro) single nucleotide variant ATP2A2-related condition [RCV003949511] Chr12:110342249 [GRCh38]
Chr12:110780054 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.220-1G>A single nucleotide variant Keratosis follicularis [RCV003984898] Chr12:110292019 [GRCh38]
Chr12:110729824 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_170665.4(ATP2A2):c.1494T>C (p.Cys498=) single nucleotide variant ATP2A2-related condition [RCV003931751] Chr12:110339355 [GRCh38]
Chr12:110777160 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.2521+10A>G single nucleotide variant ATP2A2-related condition [RCV003919489] Chr12:110343444 [GRCh38]
Chr12:110781249 [GRCh37]
Chr12:12q24.11		 likely benign
NM_170665.4(ATP2A2):c.632G>A (p.Gly211Asp) single nucleotide variant not provided [RCV003334150] Chr12:110327554 [GRCh38]
Chr12:110765359 [GRCh37]
Chr12:12q24.11		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5663
Count of miRNA genes:1370
Interacting mature miRNAs:1835
Transcripts:ENST00000308664, ENST00000313432, ENST00000377685, ENST00000395494, ENST00000539276, ENST00000547050, ENST00000547792, ENST00000548169, ENST00000549840, ENST00000550248, ENST00000550262, ENST00000552636, ENST00000553144
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G15902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,784,733 - 110,784,959UniSTSGRCh37
GRCh371019,779,328 - 19,779,573UniSTSGRCh37
Build 361019,819,334 - 19,819,579RGDNCBI36
Celera12110,410,477 - 110,410,703UniSTS
Celera1019,465,404 - 19,465,649RGD
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map12q24.11UniSTS
HuRef12107,803,337 - 107,803,563UniSTS
HuRef1019,442,695 - 19,442,944UniSTS
D12S1965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,784,581 - 110,784,705UniSTSGRCh37
Build 3612109,268,964 - 109,269,088RGDNCBI36
Celera12110,410,325 - 110,410,449RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,803,185 - 107,803,309UniSTS
Whitehead-YAC Contig Map12 UniSTS
RH67554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,784,906 - 110,785,008UniSTSGRCh37
Build 3612109,269,289 - 109,269,391RGDNCBI36
Celera12110,410,650 - 110,410,752RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,803,510 - 107,803,612UniSTS
D12S1133E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,781,089 - 110,782,773UniSTSGRCh37
Build 3612109,265,472 - 109,267,156RGDNCBI36
Celera12110,406,833 - 110,408,517RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,799,693 - 107,801,377UniSTS
D12S1188E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,788,703 - 110,788,859UniSTSGRCh37
Build 3612109,273,086 - 109,273,242RGDNCBI36
Celera12110,414,447 - 110,414,603RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,807,307 - 107,807,463UniSTS
WI-18984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,788,549 - 110,788,801UniSTSGRCh37
Build 3612109,272,932 - 109,273,184RGDNCBI36
Celera12110,414,293 - 110,414,545RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,807,153 - 107,807,405UniSTS
GeneMap99-GB4 RH Map12427.38UniSTS
Whitehead-RH Map12527.9UniSTS
NCBI RH Map12710.1UniSTS
D12S2026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,788,549 - 110,788,877UniSTSGRCh37
Build 3612109,272,932 - 109,273,260RGDNCBI36
Celera12110,414,293 - 110,414,621RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,807,153 - 107,807,481UniSTS
Whitehead-YAC Contig Map12 UniSTS
MARC_24304-24305:1030108971:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,783,135 - 110,783,890UniSTSGRCh37
Build 3612109,267,518 - 109,268,273RGDNCBI36
Celera12110,408,879 - 110,409,634RGD
HuRef12107,801,739 - 107,802,494UniSTS
ATP2A2__4219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,788,167 - 110,788,880UniSTSGRCh37
Build 3612109,272,550 - 109,273,263RGDNCBI36
Celera12110,413,911 - 110,414,624RGD
HuRef12107,806,771 - 107,807,484UniSTS
G32862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,784,906 - 110,785,008UniSTSGRCh37
Celera12110,410,650 - 110,410,752UniSTS
Cytogenetic Map12q24.11UniSTS
HuRef12107,803,510 - 107,803,612UniSTS
ATP2A2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,771,039 - 110,771,942UniSTSGRCh37
Celera12110,396,782 - 110,397,685UniSTS
HuRef12107,789,642 - 107,790,545UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 107 418 447 418
Medium 2432 2303 1703 606 1383 448 3937 1723 3657 390 1446 1605 171 1204 2370 4
Low 581 22 18 567 16 1 27 62 28 5 6 4 1 1 2
Below cutoff 3 1 1 1 15 1 7 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_170665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY186578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG773489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI553880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU365364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU477522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC583794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308664   ⟹   ENSP00000311186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,281,116 - 110,351,090 (+)Ensembl
RefSeq Acc Id: ENST00000313432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,345,437 - 110,351,093 (+)Ensembl
RefSeq Acc Id: ENST00000377685   ⟹   ENSP00000366913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,281,297 - 110,351,057 (+)Ensembl
RefSeq Acc Id: ENST00000539276   ⟹   ENSP00000440045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,281,247 - 110,351,093 (+)Ensembl
RefSeq Acc Id: ENST00000547050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,325,801 - 110,332,632 (+)Ensembl
RefSeq Acc Id: ENST00000547792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,343,256 - 110,345,247 (+)Ensembl
RefSeq Acc Id: ENST00000548169   ⟹   ENSP00000449454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,292,049 - 110,346,621 (+)Ensembl
RefSeq Acc Id: ENST00000549840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,327,687 - 110,332,143 (+)Ensembl
RefSeq Acc Id: ENST00000550248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,295,991 - 110,323,072 (+)Ensembl
RefSeq Acc Id: ENST00000550262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,329,399 - 110,334,291 (+)Ensembl
RefSeq Acc Id: ENST00000552636   ⟹   ENSP00000447406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,280,756 - 110,296,712 (+)Ensembl
RefSeq Acc Id: ENST00000553144   ⟹   ENSP00000450407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12110,346,201 - 110,350,373 (+)Ensembl
RefSeq Acc Id: NM_001413013   ⟹   NP_001399942
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,351,093 (+)NCBI
T2T-CHM13v2.012110,258,889 - 110,328,744 (+)NCBI
RefSeq Acc Id: NM_001413014   ⟹   NP_001399943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,351,093 (+)NCBI
T2T-CHM13v2.012110,258,889 - 110,328,744 (+)NCBI
RefSeq Acc Id: NM_001413015   ⟹   NP_001399944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,280,616 - 110,351,093 (+)NCBI
T2T-CHM13v2.012110,258,258 - 110,328,744 (+)NCBI
RefSeq Acc Id: NM_001681   ⟹   NP_001672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,351,093 (+)NCBI
GRCh3712110,719,032 - 110,788,898 (+)ENTREZGENE
GRCh3712110,719,032 - 110,788,898 (+)NCBI
Build 3612109,203,815 - 109,273,278 (+)NCBI Archive
HuRef12107,737,670 - 107,807,502 (+)ENTREZGENE
CHM1_112110,686,837 - 110,756,707 (+)NCBI
T2T-CHM13v2.012110,258,889 - 110,328,744 (+)NCBI
Sequence:
RefSeq Acc Id: NM_170665   ⟹   NP_733765
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,351,093 (+)NCBI
GRCh3712110,719,032 - 110,788,898 (+)ENTREZGENE
GRCh3712110,719,032 - 110,788,898 (+)NCBI
Build 3612109,203,815 - 109,269,511 (+)NCBI Archive
HuRef12107,737,670 - 107,807,502 (+)ENTREZGENE
CHM1_112110,686,837 - 110,756,707 (+)NCBI
T2T-CHM13v2.012110,258,889 - 110,328,744 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538402   ⟹   XP_011536704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,351,093 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054372123   ⟹   XP_054228098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012110,258,889 - 110,328,744 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001399942 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399943 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001672 (Get FASTA)   NCBI Sequence Viewer  
  NP_733765 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536704 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228098 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52757 (Get FASTA)   NCBI Sequence Viewer  
  AAA52758 (Get FASTA)   NCBI Sequence Viewer  
  AAA53193 (Get FASTA)   NCBI Sequence Viewer  
  AAA53194 (Get FASTA)   NCBI Sequence Viewer  
  AAH35588 (Get FASTA)   NCBI Sequence Viewer  
  AAO47398 (Get FASTA)   NCBI Sequence Viewer  
  ABY71268 (Get FASTA)   NCBI Sequence Viewer  
  ACA51040 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33387 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33388 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33389 (Get FASTA)   NCBI Sequence Viewer  
  BAG57266 (Get FASTA)   NCBI Sequence Viewer  
  CEF39401 (Get FASTA)   NCBI Sequence Viewer  
  EAW97902 (Get FASTA)   NCBI Sequence Viewer  
  EAW97903 (Get FASTA)   NCBI Sequence Viewer  
  EAW97904 (Get FASTA)   NCBI Sequence Viewer  
  EAW97905 (Get FASTA)   NCBI Sequence Viewer  
  EAW97906 (Get FASTA)   NCBI Sequence Viewer  
  EAW97907 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311186
  ENSP00000311186.6
  ENSP00000366913.4
  ENSP00000440045
  ENSP00000440045.2
  ENSP00000447406.2
  ENSP00000449454
  ENSP00000449454.2
  ENSP00000450407.2
GenBank Protein P16615 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_733765   ⟸   NM_170665
- Peptide Label: isoform b
- UniProtKB: P16614 (UniProtKB/Swiss-Prot),   B4DF05 (UniProtKB/Swiss-Prot),   A6NDN7 (UniProtKB/Swiss-Prot),   Q86VJ2 (UniProtKB/Swiss-Prot),   P16615 (UniProtKB/Swiss-Prot),   A0A0S2Z3L2 (UniProtKB/TrEMBL),   H7C5W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001672   ⟸   NM_001681
- Peptide Label: isoform a
- UniProtKB: H7C5W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536704   ⟸   XM_011538402
- Peptide Label: isoform X1
- UniProtKB: H7C5W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000311186   ⟸   ENST00000308664
RefSeq Acc Id: ENSP00000449454   ⟸   ENST00000548169
RefSeq Acc Id: ENSP00000366913   ⟸   ENST00000377685
RefSeq Acc Id: ENSP00000440045   ⟸   ENST00000539276
RefSeq Acc Id: ENSP00000447406   ⟸   ENST00000552636
RefSeq Acc Id: ENSP00000450407   ⟸   ENST00000553144
RefSeq Acc Id: NP_001399944   ⟸   NM_001413015
- Peptide Label: isoform e
RefSeq Acc Id: NP_001399943   ⟸   NM_001413014
- Peptide Label: isoform d
RefSeq Acc Id: NP_001399942   ⟸   NM_001413013
- Peptide Label: isoform c
RefSeq Acc Id: XP_054228098   ⟸   XM_054372123
- Peptide Label: isoform X1
Protein Domains
Cation-transporting P-type ATPase C-terminal   Cation-transporting P-type ATPase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16615-F1-model_v2 AlphaFold P16615 1-1042 view protein structure

Promoters
RGD ID:6789687
Promoter ID:HG_KWN:16639
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377685,   NM_001135765,   NM_001681,   NM_170665
Position:
Human AssemblyChrPosition (strand)Source
Build 3612109,203,151 - 109,204,052 (+)MPROMDB
RGD ID:6789681
Promoter ID:HG_KWN:16640
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC001TQN.2,   UC009ZVN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612109,266,911 - 109,268,452 (+)MPROMDB
RGD ID:6815026
Promoter ID:HG_MRA:3981
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK000300,   AK095382,   BC065753
Position:
Human AssemblyChrPosition (strand)Source
Build 3612109,271,666 - 109,272,166 (+)MPROMDB
RGD ID:7225379
Promoter ID:EPDNEW_H18436
Type:initiation region
Name:ATP2A2_3
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18437  EPDNEW_H18438  EPDNEW_H18439  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,280,575 - 110,280,635EPDNEW
RGD ID:7225383
Promoter ID:EPDNEW_H18437
Type:initiation region
Name:ATP2A2_4
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18436  EPDNEW_H18438  EPDNEW_H18439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,029 - 110,281,089EPDNEW
RGD ID:7225385
Promoter ID:EPDNEW_H18438
Type:initiation region
Name:ATP2A2_1
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18436  EPDNEW_H18437  EPDNEW_H18439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,247 - 110,281,307EPDNEW
RGD ID:7225389
Promoter ID:EPDNEW_H18439
Type:initiation region
Name:ATP2A2_2
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18436  EPDNEW_H18437  EPDNEW_H18438  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812110,281,710 - 110,281,770EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:812 AgrOrtholog
COSMIC ATP2A2 COSMIC
Ensembl Genes ENSG00000174437 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000308664 ENTREZGENE
  ENST00000308664.10 UniProtKB/Swiss-Prot
  ENST00000377685.9 UniProtKB/TrEMBL
  ENST00000539276 ENTREZGENE
  ENST00000539276.7 UniProtKB/Swiss-Prot
  ENST00000548169 ENTREZGENE
  ENST00000548169.2 UniProtKB/TrEMBL
  ENST00000552636.2 UniProtKB/TrEMBL
  ENST00000553144.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, cytoplasmic transduction domain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcium-transporting ATPase, transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174437 GTEx
HGNC ID HGNC:812 ENTREZGENE
Human Proteome Map ATP2A2 Human Proteome Map
InterPro ATPase_P-typ_cation-transptr_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cation-transptr_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IIA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:488 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 488 ENTREZGENE
OMIM 108740 OMIM
PANTHER CALCIUM-TRANSPORTING ATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SARCOPLASMIC/ENDOPLASMIC RETICULUM CALCIUM ATPASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cation_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1-E2_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ATP2A2 RGD, PharmGKB
PRINTS CATATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DH86_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3H0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3L2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z425_HUMAN UniProtKB/TrEMBL
  A6NDN7 ENTREZGENE
  AT2A2_HUMAN UniProtKB/Swiss-Prot
  B0FYL2_HUMAN UniProtKB/TrEMBL
  B1PM99_HUMAN UniProtKB/TrEMBL
  B4DF05 ENTREZGENE
  F8W1Z7_HUMAN UniProtKB/TrEMBL
  H7C5W9 ENTREZGENE, UniProtKB/TrEMBL
  J3QSY6_HUMAN UniProtKB/TrEMBL
  P16614 ENTREZGENE
  P16615 ENTREZGENE
  Q86VJ2 ENTREZGENE
UniProt Secondary A6NDN7 UniProtKB/Swiss-Prot
  B4DF05 UniProtKB/Swiss-Prot
  P16614 UniProtKB/Swiss-Prot
  Q86VJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP2A2  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2  ATP2A2  ATPase, Ca++ transporting, cardiac muscle, slow twitch 2  Symbol and/or name change 5135510 APPROVED