ATP2A3 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3) - Rat Genome Database

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Gene: ATP2A3 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3) Homo sapiens
Analyze
Symbol: ATP2A3
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
RGD ID: 732893
HGNC Page HGNC:813
Description: Enables several functions, including calcium-dependent ATPase activity; cysteine-type endopeptidase activator activity involved in apoptotic process; and transmembrane transporter binding activity. Involved in calcium ion transport from cytosol to endoplasmic reticulum; intracellular calcium ion homeostasis; and intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Located in organelle membrane and sarcoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenosine triphosphatase, calcium; ATPase, Ca(2+)-transporting, ubiquitous; ATPase, Ca++ transporting, ubiquitous; calcium pump 3; calcium-translocating P-type ATPase; sarco/endoplasmic reticulum Ca2+ -ATPase; sarco/endoplasmic reticulum Ca2+ ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 3; SERCA3; SR Ca(2+)-ATPase 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,923,873 - 3,964,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,923,868 - 3,964,464 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,827,167 - 3,867,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,773,918 - 3,814,485 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,773,917 - 3,814,485NCBI
Celera173,838,972 - 3,879,550 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,716,986 - 3,757,589 (-)NCBIHuRef
CHM1_1173,835,929 - 3,876,526 (-)NCBICHM1_1
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-Hydroxybenzophenone  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
ampicillin  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
Azoxymethane  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clozapine  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (EXP)
dichlorine  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
flavonoids  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
ionomycin  (EXP)
lycopene  (ISO)
manganese(II) chloride  (ISO)
mercaptopurine  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
metronidazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
neomycin  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propanal  (EXP)
purine-6-thiol  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sotorasib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. 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.
2. Expression of Ca(2+) Transport Genes in Platelets and Endothelial Cells in Hypertension. Mountian I I, etal., Hypertension 2001 Jan;37(1):135-141.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. 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.
Additional References at PubMed
PMID:8288608   PMID:8809064   PMID:9593748   PMID:9788433   PMID:9843705   PMID:11956212   PMID:11986315   PMID:12207029   PMID:12477932   PMID:12503734   PMID:12524443   PMID:12540840  
PMID:12665801   PMID:15028735   PMID:15071553   PMID:15489334   PMID:15972967   PMID:16250893   PMID:16410239   PMID:16725111   PMID:16973504   PMID:17353931   PMID:17474147   PMID:18068335  
PMID:18295663   PMID:18947868   PMID:19100511   PMID:19135027   PMID:19225163   PMID:19650915   PMID:19962989   PMID:21319273   PMID:21873635   PMID:22190034   PMID:22304920   PMID:22354994  
PMID:22948776   PMID:23157274   PMID:23235306   PMID:23752268   PMID:24189400   PMID:24213720   PMID:24224513   PMID:24457600   PMID:25270119   PMID:25798074   PMID:26186194   PMID:26618866  
PMID:27433831   PMID:27591049   PMID:27639965   PMID:28011458   PMID:28514442   PMID:28890335   PMID:29955894   PMID:30021884   PMID:30280653   PMID:30657210   PMID:30737378   PMID:31023247  
PMID:31091453   PMID:32814053   PMID:32838362   PMID:33660365   PMID:33845483   PMID:33961781   PMID:34513312   PMID:35575683   PMID:35696571   PMID:35748872   PMID:36652389   PMID:36774506  
PMID:37768083   PMID:38184384  


Genomics

Comparative Map Data
ATP2A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,923,873 - 3,964,437 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,923,868 - 3,964,464 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,827,167 - 3,867,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,773,918 - 3,814,485 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,773,917 - 3,814,485NCBI
Celera173,838,972 - 3,879,550 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,716,986 - 3,757,589 (-)NCBIHuRef
CHM1_1173,835,929 - 3,876,526 (-)NCBICHM1_1
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBIT2T-CHM13v2.0
Atp2a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,851,995 - 72,883,869 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,851,995 - 72,883,870 (+)EnsemblGRCm39 Ensembl
GRCm381172,961,169 - 72,993,043 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,961,169 - 72,993,044 (+)EnsemblGRCm38mm10GRCm38
MGSCv371172,774,671 - 72,806,545 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,777,450 - 72,809,234 (+)NCBIMGSCv36mm8
Celera1180,489,834 - 80,521,726 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.0NCBI
Atp2a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,079,710 - 58,111,279 (+)NCBIGRCr8
mRatBN7.21057,581,742 - 57,612,758 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,582,128 - 57,612,748 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,242,465 - 62,273,108 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,730,937 - 61,761,578 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,230,020 - 57,260,653 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,528,849 - 59,560,440 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,529,785 - 59,560,433 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,268,396 - 59,299,909 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41059,853,363 - 59,884,087 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11059,866,985 - 59,897,710 (+)NCBI
Celera1056,706,446 - 56,736,977 (+)NCBICelera
Cytogenetic Map10q24NCBI
Atp2a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546712,911,679 - 12,941,924 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546712,911,679 - 12,941,322 (+)NCBIChiLan1.0ChiLan1.0
ATP2A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,534,518 - 11,575,407 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,498,563 - 13,539,571 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,992,088 - 4,013,998 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,964,348 - 4,023,563 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,965,925 - 3,998,382 (-)Ensemblpanpan1.1panPan2
ATP2A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,694,494 - 47,727,017 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,695,809 - 47,727,778 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,856,404 - 46,888,927 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,539,697 - 48,572,225 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,539,694 - 48,572,226 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,317,039 - 47,349,552 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,606,054 - 47,638,604 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,662,326 - 47,694,837 (-)NCBIUU_Cfam_GSD_1.0
Atp2a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,315,881 - 55,350,665 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677551,933 - 585,114 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677552,066 - 585,093 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP2A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,980,497 - 50,025,171 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,980,488 - 50,014,006 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,031,809 - 52,042,263 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP2A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,405,871 - 3,443,339 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,405,820 - 3,443,275 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,268,234 - 18,306,511 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp2a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,528,182 - 6,558,547 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,528,177 - 6,558,576 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP2A3
125 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
NM_174953.2(ATP2A3):c.2585G>A (p.Gly862Glu) single nucleotide variant Malignant melanoma [RCV000071492] Chr17:3935217 [GRCh38]
Chr17:3838511 [GRCh37]
Chr17:3785260 [NCBI36]
Chr17:17p13.2		 not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3 copy number gain See cases [RCV000139910] Chr17:3782655..4472701 [GRCh38]
Chr17:3685949..4375996 [GRCh37]
Chr17:3632698..4322745 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3 copy number gain See cases [RCV000142018] Chr17:3928523..4637233 [GRCh38]
Chr17:3831817..4540528 [GRCh37]
Chr17:3778566..4487277 [NCBI36]
Chr17:17p13.2		 likely benign|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005173.4(ATP2A3):c.77C>T (p.Pro26Leu) single nucleotide variant not specified [RCV004318445] Chr17:3964215 [GRCh38]
Chr17:3867509 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.2(chr17:3801316-3853787)x3 copy number gain See cases [RCV000445700] Chr17:3801316..3853787 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys) single nucleotide variant ATP2A3-related disorder [RCV003970252]|not provided [RCV004705582]|not specified [RCV000455627] Chr17:3941051 [GRCh38]
Chr17:3844345 [GRCh37]
Chr17:17p13.2		 benign|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_005173.4(ATP2A3):c.2632G>A (p.Glu878Lys) single nucleotide variant not specified [RCV004301129] Chr17:3930413 [GRCh38]
Chr17:3833707 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1706C>T (p.Ala569Val) single nucleotide variant not specified [RCV004320855] Chr17:3941494 [GRCh38]
Chr17:3844788 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.716T>C (p.Met239Thr) single nucleotide variant not specified [RCV004305195] Chr17:3947770 [GRCh38]
Chr17:3851064 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2720T>C (p.Ile907Thr) single nucleotide variant not specified [RCV004316483] Chr17:3930325 [GRCh38]
Chr17:3833619 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain See cases [RCV000512393] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3 copy number gain not provided [RCV000683880] Chr17:3737355..4266446 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_005173.4(ATP2A3):c.2631C>A (p.Ser877=) single nucleotide variant ATP2A3-related disorder [RCV003916078]|not provided [RCV000962459] Chr17:3930414 [GRCh38]
Chr17:3833708 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005173.4(ATP2A3):c.1514C>T (p.Pro505Leu) single nucleotide variant ATP2A3-related disorder [RCV003950568]|not provided [RCV000901079] Chr17:3942637 [GRCh38]
Chr17:3845931 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1420-5C>T single nucleotide variant not provided [RCV000970512] Chr17:3942736 [GRCh38]
Chr17:3846030 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.996C>T (p.Ile332=) single nucleotide variant not provided [RCV000895765] Chr17:3947490 [GRCh38]
Chr17:3850784 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2525-6C>G single nucleotide variant not provided [RCV000897417] Chr17:3935283 [GRCh38]
Chr17:3838577 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005173.4(ATP2A3):c.1680C>T (p.Arg560=) single nucleotide variant ATP2A3-related disorder [RCV003943005]|not provided [RCV000947755] Chr17:3941520 [GRCh38]
Chr17:3844814 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_005173.4(ATP2A3):c.897C>T (p.Ala299=) single nucleotide variant ATP2A3-related disorder [RCV003943150]|not provided [RCV000966454] Chr17:3947589 [GRCh38]
Chr17:3850883 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3 copy number gain not provided [RCV000847867] Chr17:3785678..4162530 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005173.4(ATP2A3):c.2980+691C>T single nucleotide variant ATP2A3-related disorder [RCV003905892]|not provided [RCV000965342] Chr17:3927972 [GRCh38]
Chr17:3831266 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1439G>A (p.Arg480Gln) single nucleotide variant not specified [RCV004291646] Chr17:3942712 [GRCh38]
Chr17:3846006 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.990C>G (p.Asn330Lys) single nucleotide variant not specified [RCV004307029] Chr17:3947496 [GRCh38]
Chr17:3850790 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.126G>T (p.Pro42=) single nucleotide variant not provided [RCV000895766] Chr17:3953703 [GRCh38]
Chr17:3856997 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2148C>T (p.Ile716=) single nucleotide variant ATP2A3-related disorder [RCV003903265]|not provided [RCV000954501] Chr17:3937589 [GRCh38]
Chr17:3840883 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_005173.4(ATP2A3):c.1471C>A (p.Arg491=) single nucleotide variant ATP2A3-related disorder [RCV003926205]|not provided [RCV000963364] Chr17:3942680 [GRCh38]
Chr17:3845974 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_005173.4(ATP2A3):c.1658G>A (p.Gly553Asp) single nucleotide variant Esophageal atresia [RCV000984718] Chr17:3941542 [GRCh38]
Chr17:3844836 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2770C>T (p.Arg924Trp) single nucleotide variant not provided [RCV000935234]|not specified [RCV004678869] Chr17:3929420 [GRCh38]
Chr17:3832714 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain not provided [RCV001249276] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2		 not provided
NM_005173.4(ATP2A3):c.688A>T (p.Thr230Ser) single nucleotide variant not specified [RCV004684627] Chr17:3947798 [GRCh38]
Chr17:3851092 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.733G>C (p.Glu245Gln) single nucleotide variant not specified [RCV004684586] Chr17:3947753 [GRCh38]
Chr17:3851047 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1322C>T (p.Thr441Met) single nucleotide variant not specified [RCV004684601] Chr17:3943488 [GRCh38]
Chr17:3846782 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3652068-3872306)x3 copy number gain not provided [RCV001834229] Chr17:3652068..3872306 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1837C>T (p.Arg613Cys) single nucleotide variant not specified [RCV004113567] Chr17:3941234 [GRCh38]
Chr17:3844528 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2473C>G (p.Arg825Gly) single nucleotide variant not specified [RCV004172306] Chr17:3936318 [GRCh38]
Chr17:3839612 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2171C>T (p.Thr724Met) single nucleotide variant not specified [RCV004076129] Chr17:3937566 [GRCh38]
Chr17:3840860 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.392G>A (p.Arg131His) single nucleotide variant not specified [RCV004150530] Chr17:3951322 [GRCh38]
Chr17:3854616 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2750C>T (p.Ser917Leu) single nucleotide variant not specified [RCV004226453] Chr17:3929440 [GRCh38]
Chr17:3832734 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.401G>A (p.Arg134His) single nucleotide variant not specified [RCV004164379] Chr17:3951313 [GRCh38]
Chr17:3854607 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2668G>A (p.Val890Met) single nucleotide variant not specified [RCV004189284] Chr17:3930377 [GRCh38]
Chr17:3833671 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2642C>T (p.Pro881Leu) single nucleotide variant not specified [RCV004167953] Chr17:3930403 [GRCh38]
Chr17:3833697 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2593A>G (p.Ile865Val) single nucleotide variant not specified [RCV004087853] Chr17:3935209 [GRCh38]
Chr17:3838503 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.656C>T (p.Ala219Val) single nucleotide variant not specified [RCV004135442] Chr17:3947830 [GRCh38]
Chr17:3851124 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.421C>T (p.Arg141Cys) single nucleotide variant not specified [RCV004167920] Chr17:3951293 [GRCh38]
Chr17:3854587 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1192G>A (p.Gly398Arg) single nucleotide variant not specified [RCV004141377] Chr17:3944799 [GRCh38]
Chr17:3848093 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1649G>A (p.Arg550Gln) single nucleotide variant not specified [RCV004073887] Chr17:3941551 [GRCh38]
Chr17:3844845 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1990G>C (p.Glu664Gln) single nucleotide variant not specified [RCV004239324] Chr17:3941081 [GRCh38]
Chr17:3844375 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.135A>C (p.Glu45Asp) single nucleotide variant not specified [RCV004102056] Chr17:3953694 [GRCh38]
Chr17:3856988 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.509C>A (p.Ser170Tyr) single nucleotide variant not specified [RCV004137325] Chr17:3950728 [GRCh38]
Chr17:3854022 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.973C>T (p.Arg325Cys) single nucleotide variant not specified [RCV004165645] Chr17:3947513 [GRCh38]
Chr17:3850807 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.553G>A (p.Val185Met) single nucleotide variant not specified [RCV004173168] Chr17:3950588 [GRCh38]
Chr17:3853882 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2470C>T (p.Pro824Ser) single nucleotide variant not specified [RCV004187681] Chr17:3936321 [GRCh38]
Chr17:3839615 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.329G>A (p.Arg110His) single nucleotide variant not specified [RCV004250672] Chr17:3951385 [GRCh38]
Chr17:3854679 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1169C>A (p.Thr390Asn) single nucleotide variant not specified [RCV004262347] Chr17:3945075 [GRCh38]
Chr17:3848369 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.317T>A (p.Val106Glu) single nucleotide variant not specified [RCV004282664] Chr17:3951588 [GRCh38]
Chr17:3854882 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2737C>T (p.Leu913Phe) single nucleotide variant not specified [RCV004270258] Chr17:3930308 [GRCh38]
Chr17:3833602 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1606C>T (p.Pro536Ser) single nucleotide variant not specified [RCV004260225] Chr17:3941594 [GRCh38]
Chr17:3844888 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1705G>A (p.Ala569Thr) single nucleotide variant not specified [RCV004262906] Chr17:3941495 [GRCh38]
Chr17:3844789 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.580A>G (p.Ile194Val) single nucleotide variant not specified [RCV004274008] Chr17:3950561 [GRCh38]
Chr17:3853855 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1400G>A (p.Arg467Gln) single nucleotide variant not specified [RCV004263524] Chr17:3943410 [GRCh38]
Chr17:3846704 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_005173.4(ATP2A3):c.1586G>A (p.Arg529His) single nucleotide variant not specified [RCV004342952] Chr17:3941614 [GRCh38]
Chr17:3844908 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2261A>G (p.Tyr754Cys) single nucleotide variant not specified [RCV004352491] Chr17:3937476 [GRCh38]
Chr17:3840770 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2057G>A (p.Arg686His) single nucleotide variant not specified [RCV004334579] Chr17:3941014 [GRCh38]
Chr17:3844308 [GRCh37]
Chr17:17p13.2		 uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_005173.4(ATP2A3):c.2229C>T (p.Ile743=) single nucleotide variant ATP2A3-related disorder [RCV003954153]|not provided [RCV003428062] Chr17:3937508 [GRCh38]
Chr17:3840802 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.301A>G (p.Asn101Asp) single nucleotide variant not provided [RCV003413086] Chr17:3951604 [GRCh38]
Chr17:3854898 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.396G>A (p.Ser132=) single nucleotide variant ATP2A3-related disorder [RCV003939849] Chr17:3951318 [GRCh38]
Chr17:3854612 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.669C>T (p.Ala223=) single nucleotide variant ATP2A3-related disorder [RCV003941482] Chr17:3947817 [GRCh38]
Chr17:3851111 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_005173.4(ATP2A3):c.2234C>A (p.Ala745Asp) single nucleotide variant ATP2A3-related disorder [RCV003919556] Chr17:3937503 [GRCh38]
Chr17:3840797 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.679G>A (p.Gly227Ser) single nucleotide variant not specified [RCV004418383] Chr17:3947807 [GRCh38]
Chr17:3851101 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.370C>A (p.Pro124Thr) single nucleotide variant not specified [RCV004418382] Chr17:3951344 [GRCh38]
Chr17:3854638 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2675A>G (p.Glu892Gly) single nucleotide variant not specified [RCV004418378] Chr17:3930370 [GRCh38]
Chr17:3833664 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1789G>A (p.Val597Ile) single nucleotide variant not specified [RCV004418372] Chr17:3941282 [GRCh38]
Chr17:3844576 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1738G>A (p.Asp580Asn) single nucleotide variant not specified [RCV004418370] Chr17:3941462 [GRCh38]
Chr17:3844756 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.265G>A (p.Val89Met) single nucleotide variant not specified [RCV004418377] Chr17:3951640 [GRCh38]
Chr17:3854934 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2035G>A (p.Val679Met) single nucleotide variant not specified [RCV004418375] Chr17:3941036 [GRCh38]
Chr17:3844330 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.971G>A (p.Arg324Gln) single nucleotide variant not specified [RCV004418385] Chr17:3947515 [GRCh38]
Chr17:3850809 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.187C>T (p.Arg63Cys) single nucleotide variant not specified [RCV004418374] Chr17:3953379 [GRCh38]
Chr17:3856673 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1805C>T (p.Pro602Leu) single nucleotide variant not specified [RCV004418373] Chr17:3941266 [GRCh38]
Chr17:3844560 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1518T>C (p.Thr506=) single nucleotide variant ATP2A3-related disorder [RCV003982116] Chr17:3942633 [GRCh38]
Chr17:3845927 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.33C>G (p.Asp11Glu) single nucleotide variant not specified [RCV004418381] Chr17:3964259 [GRCh38]
Chr17:3867553 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2525T>G (p.Val842Gly) single nucleotide variant not specified [RCV004418376] Chr17:3935277 [GRCh38]
Chr17:3838571 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1742G>C (p.Cys581Ser) single nucleotide variant not specified [RCV004418371] Chr17:3941458 [GRCh38]
Chr17:3844752 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1779C>T (p.Phe593=) single nucleotide variant ATP2A3-related disorder [RCV003944616] Chr17:3941292 [GRCh38]
Chr17:3844586 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1095+9C>T single nucleotide variant ATP2A3-related disorder [RCV003962192] Chr17:3947382 [GRCh38]
Chr17:3850676 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.2659G>A (p.Asp887Asn) single nucleotide variant ATP2A3-related disorder [RCV003973970] Chr17:3930386 [GRCh38]
Chr17:3833680 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.609C>T (p.Asp203=) single nucleotide variant ATP2A3-related disorder [RCV003958953] Chr17:3950532 [GRCh38]
Chr17:3853826 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1419+10G>A single nucleotide variant ATP2A3-related disorder [RCV003984483] Chr17:3943381 [GRCh38]
Chr17:3846675 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1302T>C (p.Tyr434=) single nucleotide variant ATP2A3-related disorder [RCV003974731] Chr17:3943508 [GRCh38]
Chr17:3846802 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.258C>T (p.Thr86=) single nucleotide variant ATP2A3-related disorder [RCV003911365] Chr17:3951647 [GRCh38]
Chr17:3854941 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.924C>T (p.Pro308=) single nucleotide variant ATP2A3-related disorder [RCV003963860] Chr17:3947562 [GRCh38]
Chr17:3850856 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.904C>T (p.Leu302=) single nucleotide variant ATP2A3-related disorder [RCV003924436] Chr17:3947582 [GRCh38]
Chr17:3850876 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.993C>T (p.Ala331=) single nucleotide variant ATP2A3-related disorder [RCV003944603] Chr17:3947493 [GRCh38]
Chr17:3850787 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.2400C>T (p.Asp800=) single nucleotide variant ATP2A3-related disorder [RCV003982310] Chr17:3936391 [GRCh38]
Chr17:3839685 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.870T>C (p.Arg290=) single nucleotide variant ATP2A3-related disorder [RCV003974099] Chr17:3947616 [GRCh38]
Chr17:3850910 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2674G>A (p.Glu892Lys) single nucleotide variant ATP2A3-related disorder [RCV003931881] Chr17:3930371 [GRCh38]
Chr17:3833665 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1272T>G (p.Ala424=) single nucleotide variant ATP2A3-related disorder [RCV003982465] Chr17:3944719 [GRCh38]
Chr17:3848013 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1277A>G (p.Asp426Gly) single nucleotide variant ATP2A3-related disorder [RCV003916921] Chr17:3944714 [GRCh38]
Chr17:3848008 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.498C>T (p.Ile166=) single nucleotide variant ATP2A3-related disorder [RCV003922142] Chr17:3950739 [GRCh38]
Chr17:3854033 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.2352C>T (p.Pro784=) single nucleotide variant ATP2A3-related disorder [RCV003931963] Chr17:3936439 [GRCh38]
Chr17:3839733 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1372G>A (p.Asp458Asn) single nucleotide variant ATP2A3-related disorder [RCV003932078] Chr17:3943438 [GRCh38]
Chr17:3846732 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1317G>A (p.Glu439=) single nucleotide variant ATP2A3-related disorder [RCV003904152] Chr17:3943493 [GRCh38]
Chr17:3846787 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.2021G>A (p.Arg674His) single nucleotide variant ATP2A3-related disorder [RCV003909812] Chr17:3941050 [GRCh38]
Chr17:3844344 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.*19A>G single nucleotide variant ATP2A3-related disorder [RCV003927179] Chr17:3925403 [GRCh38]
Chr17:3828697 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2863-5G>A single nucleotide variant ATP2A3-related disorder [RCV003972318] Chr17:3928785 [GRCh38]
Chr17:3832079 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.936G>A (p.Pro312=) single nucleotide variant ATP2A3-related disorder [RCV003922116] Chr17:3947550 [GRCh38]
Chr17:3850844 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1896C>T (p.Ala632=) single nucleotide variant ATP2A3-related disorder [RCV003931373] Chr17:3941175 [GRCh38]
Chr17:3844469 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2748C>T (p.Val916=) single nucleotide variant ATP2A3-related disorder [RCV003911499] Chr17:3929442 [GRCh38]
Chr17:3832736 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1707G>A (p.Ala569=) single nucleotide variant ATP2A3-related disorder [RCV003976680] Chr17:3941493 [GRCh38]
Chr17:3844787 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1707G>C (p.Ala569=) single nucleotide variant ATP2A3-related disorder [RCV003974765] Chr17:3941493 [GRCh38]
Chr17:3844787 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1420-4G>A single nucleotide variant ATP2A3-related disorder [RCV003959819] Chr17:3942735 [GRCh38]
Chr17:3846029 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.15T>C (p.His5=) single nucleotide variant ATP2A3-related disorder [RCV003981942] Chr17:3964277 [GRCh38]
Chr17:3867571 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2529C>T (p.Tyr843=) single nucleotide variant ATP2A3-related disorder [RCV003981673] Chr17:3935273 [GRCh38]
Chr17:3838567 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1809G>A (p.Pro603=) single nucleotide variant ATP2A3-related disorder [RCV003969158] Chr17:3941262 [GRCh38]
Chr17:3844556 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1452C>T (p.Thr484=) single nucleotide variant ATP2A3-related disorder [RCV003941696] Chr17:3942699 [GRCh38]
Chr17:3845993 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.2751G>A (p.Ser917=) single nucleotide variant ATP2A3-related disorder [RCV003978957] Chr17:3929439 [GRCh38]
Chr17:3832733 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.1371C>T (p.Thr457=) single nucleotide variant ATP2A3-related disorder [RCV003914648] Chr17:3943439 [GRCh38]
Chr17:3846733 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.1155G>C (p.Ser385=) single nucleotide variant ATP2A3-related disorder [RCV003944589] Chr17:3945089 [GRCh38]
Chr17:3848383 [GRCh37]
Chr17:17p13.2		 likely benign
NM_005173.4(ATP2A3):c.2103T>C (p.Thr701=) single nucleotide variant ATP2A3-related disorder [RCV003979668] Chr17:3937634 [GRCh38]
Chr17:3840928 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.*14A>G single nucleotide variant ATP2A3-related disorder [RCV003979732] Chr17:3925408 [GRCh38]
Chr17:3828702 [GRCh37]
Chr17:17p13.2		 benign
NM_005173.4(ATP2A3):c.845C>T (p.Pro282Leu) single nucleotide variant not specified [RCV004418384] Chr17:3947641 [GRCh38]
Chr17:3850935 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2956T>C (p.Tyr986His) single nucleotide variant not specified [RCV004418380] Chr17:3928687 [GRCh38]
Chr17:3831981 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2746G>A (p.Val916Ile) single nucleotide variant not specified [RCV004418379] Chr17:3929444 [GRCh38]
Chr17:3832738 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
NM_005173.4(ATP2A3):c.1142A>G (p.Glu381Gly) single nucleotide variant not specified [RCV004687648] Chr17:3945102 [GRCh38]
Chr17:3848396 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.334G>A (p.Ala112Thr) single nucleotide variant not specified [RCV004687646] Chr17:3951380 [GRCh38]
Chr17:3854674 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.931C>A (p.Leu311Ile) single nucleotide variant not specified [RCV004684636] Chr17:3947555 [GRCh38]
Chr17:3850849 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2029G>A (p.Ala677Thr) single nucleotide variant not specified [RCV004687644] Chr17:3941042 [GRCh38]
Chr17:3844336 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1742G>A (p.Cys581Tyr) single nucleotide variant not specified [RCV004677576] Chr17:3941458 [GRCh38]
Chr17:3844752 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.2017G>A (p.Ala673Thr) single nucleotide variant not specified [RCV004677593] Chr17:3941054 [GRCh38]
Chr17:3844348 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_005173.4(ATP2A3):c.1497G>A (p.Thr499=) single nucleotide variant ATP2A3-related disorder [RCV004758469] Chr17:3942654 [GRCh38]
Chr17:3845948 [GRCh37]
Chr17:17p13.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7311
Count of miRNA genes:1061
Interacting mature miRNAs:1345
Transcripts:ENST00000309890, ENST00000352011, ENST00000359983, ENST00000397035, ENST00000397039, ENST00000397041, ENST00000397043, ENST00000570773, ENST00000570845, ENST00000571245, ENST00000572116, ENST00000572176, ENST00000572694, ENST00000574202, ENST00000574999, ENST00000576957
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407159910GWAS808886_Htype 2 diabetes mellitus QTL GWAS808886 (human)0.0000008type 2 diabetes mellitus1739247923924793Human
407159911GWAS808887_Htype 2 diabetes mellitus QTL GWAS808887 (human)0.0000002type 2 diabetes mellitus1739570623957063Human
407246736GWAS895712_Htype 2 diabetes mellitus QTL GWAS895712 (human)0.000005type 2 diabetes mellitus1739413773941378Human
407285791GWAS934767_Htype 2 diabetes mellitus QTL GWAS934767 (human)0.0000005type 2 diabetes mellitus1739247923924793Human
407325150GWAS974126_Heducational attainment QTL GWAS974126 (human)4e-08educational attainment1739358113935812Human
407201743GWAS850719_Hhuman papilloma virus infection, oral cavity cancer QTL GWAS850719 (human)0.000005human papilloma virus infection, oral cavity cancer1739365803936581Human
407254009GWAS902985_Htype 2 diabetes mellitus QTL GWAS902985 (human)9e-10type 2 diabetes mellitus1739247923924793Human
407128987GWAS777963_Heosinophil count QTL GWAS777963 (human)4e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1739254083925409Human
406965726GWAS614702_Hglucose homeostasis measurement, acute insulin response measurement QTL GWAS614702 (human)0.000003glucose homeostasis measurement, acute insulin response measurementchange in blood insulin level (CMO:0000354)1739621053962106Human

Markers in Region
G42991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,828,070 - 3,828,170UniSTSGRCh37
Build 36173,774,819 - 3,774,919RGDNCBI36
Celera173,839,873 - 3,839,973RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,717,893 - 3,717,993UniSTS
TNG Radiation Hybrid Map1737418.0UniSTS
D17S1575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,827,201 - 3,827,354UniSTSGRCh37
Build 36173,773,950 - 3,774,103RGDNCBI36
Celera173,839,004 - 3,839,157RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,717,024 - 3,717,177UniSTS
RH12619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,827,888 - 3,828,073UniSTSGRCh37
Build 36173,774,637 - 3,774,822RGDNCBI36
Celera173,839,691 - 3,839,876RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,717,711 - 3,717,896UniSTS
GeneMap99-GB4 RH Map1739.58UniSTS
G54311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,850,380 - 3,850,545UniSTSGRCh37
Celera173,862,193 - 3,862,358UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef173,740,121 - 3,740,286UniSTS
G54314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,866,469 - 3,866,572UniSTSGRCh37
Celera173,878,283 - 3,878,386UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef173,756,300 - 3,756,403UniSTS
G54315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,840,984 - 3,841,176UniSTSGRCh37
Celera173,852,797 - 3,852,989UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef173,730,725 - 3,730,917UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2253 4954 1721 2336 6 621 1950 462 2265 7291 6470 50 3718 1 846 1738 1605 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA643105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY460339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC328790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309890   ⟹   ENSP00000312577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,923,870 - 3,964,464 (-)Ensembl
Ensembl Acc Id: ENST00000352011   ⟹   ENSP00000301387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,291 - 3,964,346 (-)Ensembl
Ensembl Acc Id: ENST00000359983   ⟹   ENSP00000353072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,291 - 3,964,291 (-)Ensembl
Ensembl Acc Id: ENST00000397035   ⟹   ENSP00000380229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,923,868 - 3,964,419 (-)Ensembl
Ensembl Acc Id: ENST00000397041   ⟹   ENSP00000380234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,923,873 - 3,964,437 (-)Ensembl
Ensembl Acc Id: ENST00000397043   ⟹   ENSP00000380236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,346 - 3,964,415 (-)Ensembl
Ensembl Acc Id: ENST00000570773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,260 - 3,930,871 (-)Ensembl
Ensembl Acc Id: ENST00000570845   ⟹   ENSP00000461480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,291 - 3,930,371 (-)Ensembl
Ensembl Acc Id: ENST00000571245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,928,158 - 3,930,427 (-)Ensembl
Ensembl Acc Id: ENST00000572116   ⟹   ENSP00000458865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,378 - 3,930,371 (-)Ensembl
Ensembl Acc Id: ENST00000572176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,934,936 - 3,936,352 (-)Ensembl
Ensembl Acc Id: ENST00000572694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,941,439 - 3,945,376 (-)Ensembl
Ensembl Acc Id: ENST00000574202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,953,281 - 3,964,236 (-)Ensembl
Ensembl Acc Id: ENST00000574999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,925,047 - 3,928,620 (-)Ensembl
Ensembl Acc Id: ENST00000576957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,929,328 - 3,937,087 (-)Ensembl
RefSeq Acc Id: NM_005173   ⟹   NP_005164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174953   ⟹   NP_777613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174954   ⟹   NP_777614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174955   ⟹   NP_777615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174956   ⟹   NP_777616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174957   ⟹   NP_777617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174958   ⟹   NP_777618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
GRCh37173,827,163 - 3,867,758 (-)NCBI
Build 36173,773,918 - 3,814,485 (-)NCBI Archive
HuRef173,716,986 - 3,757,589 (-)NCBI
CHM1_1173,835,929 - 3,876,526 (-)NCBI
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523881   ⟹   XP_011522183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,925,416 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523882   ⟹   XP_011522184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,927,180 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523884   ⟹   XP_011522186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,927,180 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523885   ⟹   XP_011522187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523888   ⟹   XP_011522190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523889   ⟹   XP_011522191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,927,711 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523892   ⟹   XP_011522194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,941,548 - 3,964,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436150   ⟹   XP_047292106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
RefSeq Acc Id: XM_047436151   ⟹   XP_047292107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
RefSeq Acc Id: XM_047436152   ⟹   XP_047292108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
RefSeq Acc Id: XM_047436153   ⟹   XP_047292109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,923,873 - 3,964,437 (-)NCBI
RefSeq Acc Id: XM_054316272   ⟹   XP_054172247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,814,664 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316273   ⟹   XP_054172248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,816,428 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316274   ⟹   XP_054172249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,816,428 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316275   ⟹   XP_054172250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316276   ⟹   XP_054172251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316277   ⟹   XP_054172252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316278   ⟹   XP_054172253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316279   ⟹   XP_054172254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316280   ⟹   XP_054172255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,816,959 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316281   ⟹   XP_054172256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,813,121 - 3,853,682 (-)NCBI
RefSeq Acc Id: XM_054316282   ⟹   XP_054172257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,830,794 - 3,853,682 (-)NCBI
Protein Sequences
Protein RefSeqs NP_005164 (Get FASTA)   NCBI Sequence Viewer  
  NP_777613 (Get FASTA)   NCBI Sequence Viewer  
  NP_777614 (Get FASTA)   NCBI Sequence Viewer  
  NP_777615 (Get FASTA)   NCBI Sequence Viewer  
  NP_777616 (Get FASTA)   NCBI Sequence Viewer  
  NP_777617 (Get FASTA)   NCBI Sequence Viewer  
  NP_777618 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522183 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522184 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522186 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522187 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522190 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522191 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522194 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292106 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292107 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292108 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172256 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172257 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB29700 (Get FASTA)   NCBI Sequence Viewer  
  AAC24525 (Get FASTA)   NCBI Sequence Viewer  
  AAC24526 (Get FASTA)   NCBI Sequence Viewer  
  AAH35729 (Get FASTA)   NCBI Sequence Viewer  
  AAL78967 (Get FASTA)   NCBI Sequence Viewer  
  AAL78968 (Get FASTA)   NCBI Sequence Viewer  
  AAR15415 (Get FASTA)   NCBI Sequence Viewer  
  BAF85405 (Get FASTA)   NCBI Sequence Viewer  
  CAA75739 (Get FASTA)   NCBI Sequence Viewer  
  CAA75747 (Get FASTA)   NCBI Sequence Viewer  
  CAA75748 (Get FASTA)   NCBI Sequence Viewer  
  CAA93736 (Get FASTA)   NCBI Sequence Viewer  
  CAA93737 (Get FASTA)   NCBI Sequence Viewer  
  CDM55639 (Get FASTA)   NCBI Sequence Viewer  
  CDM55640 (Get FASTA)   NCBI Sequence Viewer  
  CDM55641 (Get FASTA)   NCBI Sequence Viewer  
  CDM55642 (Get FASTA)   NCBI Sequence Viewer  
  CDM55643 (Get FASTA)   NCBI Sequence Viewer  
  CDM55644 (Get FASTA)   NCBI Sequence Viewer  
  EAW90460 (Get FASTA)   NCBI Sequence Viewer  
  EAW90461 (Get FASTA)   NCBI Sequence Viewer  
  EAW90462 (Get FASTA)   NCBI Sequence Viewer  
  EAW90463 (Get FASTA)   NCBI Sequence Viewer  
  EAW90464 (Get FASTA)   NCBI Sequence Viewer  
  EAW90465 (Get FASTA)   NCBI Sequence Viewer  
  EAW90466 (Get FASTA)   NCBI Sequence Viewer  
  EAW90467 (Get FASTA)   NCBI Sequence Viewer  
  EAW90468 (Get FASTA)   NCBI Sequence Viewer  
  EAW90469 (Get FASTA)   NCBI Sequence Viewer  
  EAW90470 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000301387
  ENSP00000301387.6
  ENSP00000312577
  ENSP00000312577.7
  ENSP00000353072
  ENSP00000353072.3
  ENSP00000380229
  ENSP00000380229.3
  ENSP00000380234
  ENSP00000380234.3
  ENSP00000380236
  ENSP00000380236.3
  ENSP00000458865.1
  ENSP00000461480.1
GenBank Protein Q93084 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_777617   ⟸   NM_174957
- Peptide Label: isoform f
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005164   ⟸   NM_005173
- Peptide Label: isoform a
- UniProtKB: Q8TEX5 (UniProtKB/Swiss-Prot),   Q6JHX1 (UniProtKB/Swiss-Prot),   Q16115 (UniProtKB/Swiss-Prot),   O75502 (UniProtKB/Swiss-Prot),   O75501 (UniProtKB/Swiss-Prot),   O60901 (UniProtKB/Swiss-Prot),   O60900 (UniProtKB/Swiss-Prot),   D3DTJ8 (UniProtKB/Swiss-Prot),   A8MZG0 (UniProtKB/Swiss-Prot),   Q8TEX6 (UniProtKB/Swiss-Prot),   Q93084 (UniProtKB/Swiss-Prot),   A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_777615   ⟸   NM_174955
- Peptide Label: isoform b
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_777614   ⟸   NM_174954
- Peptide Label: isoform d
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_777618   ⟸   NM_174958
- Peptide Label: isoform c
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_777616   ⟸   NM_174956
- Peptide Label: isoform c
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_777613   ⟸   NM_174953
- Peptide Label: isoform e
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522187   ⟸   XM_011523885
- Peptide Label: isoform X4
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522190   ⟸   XM_011523888
- Peptide Label: isoform X7
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522183   ⟸   XM_011523881
- Peptide Label: isoform X1
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522184   ⟸   XM_011523882
- Peptide Label: isoform X2
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522186   ⟸   XM_011523884
- Peptide Label: isoform X3
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522191   ⟸   XM_011523889
- Peptide Label: isoform X8
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522194   ⟸   XM_011523892
- Peptide Label: isoform X10
- Sequence:
Ensembl Acc Id: ENSP00000353072   ⟸   ENST00000359983
Ensembl Acc Id: ENSP00000312577   ⟸   ENST00000309890
Ensembl Acc Id: ENSP00000461480   ⟸   ENST00000570845
Ensembl Acc Id: ENSP00000458865   ⟸   ENST00000572116
Ensembl Acc Id: ENSP00000301387   ⟸   ENST00000352011
Ensembl Acc Id: ENSP00000380229   ⟸   ENST00000397035
Ensembl Acc Id: ENSP00000380236   ⟸   ENST00000397043
Ensembl Acc Id: ENSP00000380234   ⟸   ENST00000397041
RefSeq Acc Id: XP_047292109   ⟸   XM_047436153
- Peptide Label: isoform X9
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292107   ⟸   XM_047436151
- Peptide Label: isoform X6
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292106   ⟸   XM_047436150
- Peptide Label: isoform X5
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292108   ⟸   XM_047436152
- Peptide Label: isoform X7
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172256   ⟸   XM_054316281
- Peptide Label: isoform X9
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172252   ⟸   XM_054316277
- Peptide Label: isoform X6
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172250   ⟸   XM_054316275
- Peptide Label: isoform X4
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172251   ⟸   XM_054316276
- Peptide Label: isoform X5
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172254   ⟸   XM_054316279
- Peptide Label: isoform X7
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172253   ⟸   XM_054316278
- Peptide Label: isoform X7
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172247   ⟸   XM_054316272
- Peptide Label: isoform X1
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172248   ⟸   XM_054316273
- Peptide Label: isoform X2
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172249   ⟸   XM_054316274
- Peptide Label: isoform X3
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172255   ⟸   XM_054316280
- Peptide Label: isoform X8
- UniProtKB: A8K9K1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172257   ⟸   XM_054316282
- Peptide Label: isoform X10
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-Q93084-F1-model_v2 AlphaFold Q93084 1-999 view protein structure

Promoters
RGD ID:6811133
Promoter ID:HG_ACW:32722
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ATP2A3.LAPR07,   ATP2A3.MAPR07,   ATP2A3.PAPR07-UNSPLICED,   ATP2A3.SAPR07,   SKASKEY.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,786,601 - 3,787,101 (-)MPROMDB
RGD ID:6811131
Promoter ID:HG_ACW:32724
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ATP2A3.JAPR07,   DOYRER.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,794,551 - 3,795,051 (-)MPROMDB
RGD ID:6793759
Promoter ID:HG_KWN:24715
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:ENST00000397035,   ENST00000397039,   ENST00000397041,   ENST00000397043,   ENST00000397045,   NM_005173,   NM_174953,   NM_174954,   NM_174955,   NM_174956,   NM_174957
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,814,396 - 3,815,317 (-)MPROMDB
RGD ID:7233389
Promoter ID:EPDNEW_H22440
Type:initiation region
Name:ATP2A3_1
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22441  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,964,437 - 3,964,497EPDNEW
RGD ID:7233391
Promoter ID:EPDNEW_H22441
Type:multiple initiation site
Name:ATP2A3_2
Description:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22440  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,967,127 - 3,967,187EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:813 AgrOrtholog
COSMIC ATP2A3 COSMIC
Ensembl Genes ENSG00000074370 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309890 ENTREZGENE
  ENST00000309890.11 UniProtKB/Swiss-Prot
  ENST00000352011 ENTREZGENE
  ENST00000352011.7 UniProtKB/Swiss-Prot
  ENST00000359983 ENTREZGENE
  ENST00000359983.7 UniProtKB/Swiss-Prot
  ENST00000397035 ENTREZGENE
  ENST00000397035.7 UniProtKB/Swiss-Prot
  ENST00000397041 ENTREZGENE
  ENST00000397041.8 UniProtKB/Swiss-Prot
  ENST00000397043 ENTREZGENE
  ENST00000397043.7 UniProtKB/Swiss-Prot
  ENST00000570845.5 UniProtKB/TrEMBL
  ENST00000572116.1 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 ENSG00000074370 GTEx
HGNC ID HGNC:813 ENTREZGENE
Human Proteome Map ATP2A3 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:489 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 489 ENTREZGENE
OMIM 601929 OMIM
PANTHER CALCIUM-TRANSPORTING ATPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SARCOPLASMIC/ENDOPLASMIC RETICULUM CALCIUM ATPASE 3 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 PA25106 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 A0A0C4DGN1_HUMAN UniProtKB/TrEMBL
  A0A0C4DGN3_HUMAN UniProtKB/TrEMBL
  A8K9K1 ENTREZGENE, UniProtKB/TrEMBL
  A8MZG0 ENTREZGENE
  AT2A3_HUMAN UniProtKB/Swiss-Prot
  D3DTJ8 ENTREZGENE
  O60900 ENTREZGENE
  O60901 ENTREZGENE
  O75501 ENTREZGENE
  O75502 ENTREZGENE
  Q16115 ENTREZGENE
  Q6JHX1 ENTREZGENE
  Q8TEX5 ENTREZGENE
  Q8TEX6 ENTREZGENE
  Q93084 ENTREZGENE
UniProt Secondary A8MZG0 UniProtKB/Swiss-Prot
  D3DTJ8 UniProtKB/Swiss-Prot
  O60900 UniProtKB/Swiss-Prot
  O60901 UniProtKB/Swiss-Prot
  O75501 UniProtKB/Swiss-Prot
  O75502 UniProtKB/Swiss-Prot
  Q16115 UniProtKB/Swiss-Prot
  Q6JHX1 UniProtKB/Swiss-Prot
  Q8TEX5 UniProtKB/Swiss-Prot
  Q8TEX6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP2A3  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3  ATP2A3  ATPase, Ca++ transporting, ubiquitous  Symbol and/or name change 5135510 APPROVED