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Protein

Sarcoplasmic/endoplasmic reticulum calcium ATPase 2

Gene

ATP2A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle (PubMed:16402920). Acts as a regulator of TNFSF11-mediated Ca2+ signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation (By similarity).By similarity1 Publication

Catalytic activityi

ATP + H2O + Ca2+(Side 1) = ADP + phosphate + Ca2+(Side 2).

Activity regulationi

Reversibly inhibited by phospholamban (PLN) at low calcium concentrations (By similarity). Inhibited by sarcolipin (SLN) and myoregulin (MRLN) (By similarity). Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN) (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi304Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi305Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi307Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi309Calcium 2By similarity1
Active sitei3514-aspartylphosphate intermediateBy similarity1
Metal bindingi702MagnesiumBy similarity1
Metal bindingi706MagnesiumBy similarity1
Metal bindingi767Calcium 1By similarity1
Metal bindingi770Calcium 1By similarity1
Metal bindingi795Calcium 2By similarity1
Metal bindingi798Calcium 1By similarity1
Metal bindingi799Calcium 1By similarity1
Metal bindingi799Calcium 2By similarity1
Metal bindingi907Calcium 1By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processCalcium transport, Ion transport, Transport
LigandATP-binding, Calcium, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-5578775 Ion homeostasis
R-HSA-936837 Ion transport by P-type ATPases
SignaLinkiP16615
SIGNORiP16615

Protein family/group databases

TCDBi3.A.3.2.7 the p-type atpase (p-atpase) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (EC:3.6.3.8)
Short name:
SERCA2
Short name:
SR Ca(2+)-ATPase 2
Alternative name(s):
Calcium pump 2
Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform
Endoplasmic reticulum class 1/2 Ca(2+) ATPase
Gene namesi
Name:ATP2A2
Synonyms:ATP2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000174437.16
HGNCiHGNC:812 ATP2A2
MIMi108740 gene
neXtProtiNX_P16615

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 48CytoplasmicBy similarityAdd BLAST48
Transmembranei49 – 69Helical; Name=1By similarityAdd BLAST21
Topological domaini70 – 89LumenalBy similarityAdd BLAST20
Transmembranei90 – 110Helical; Name=2By similarityAdd BLAST21
Topological domaini111 – 253CytoplasmicBy similarityAdd BLAST143
Transmembranei254 – 273Helical; Name=3By similarityAdd BLAST20
Topological domaini274 – 295LumenalBy similarityAdd BLAST22
Transmembranei296 – 313Helical; Name=4By similarityAdd BLAST18
Topological domaini314 – 756CytoplasmicBy similarityAdd BLAST443
Transmembranei757 – 776Helical; Name=5By similarityAdd BLAST20
Topological domaini777 – 786LumenalBy similarity10
Transmembranei787 – 807Helical; Name=6By similarityAdd BLAST21
Topological domaini808 – 827CytoplasmicBy similarityAdd BLAST20
Transmembranei828 – 850Helical; Name=7By similarityAdd BLAST23
Topological domaini851 – 896LumenalBy similarityAdd BLAST46
Transmembranei897 – 916Helical; Name=8By similarityAdd BLAST20
Topological domaini917 – 929CytoplasmicBy similarityAdd BLAST13
Transmembranei930 – 948Helical; Name=9By similarityAdd BLAST19
Topological domaini949 – 963LumenalBy similarityAdd BLAST15
Transmembranei964 – 984Helical; Name=10By similarityAdd BLAST21
Topological domaini985 – 1042CytoplasmicBy similarityAdd BLAST58

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Acrokeratosis verruciformis (AKV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease.
See also OMIM:101900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017532602P → L in AKV; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912737EnsemblClinVar.1
Darier disease (DD)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi.
See also OMIM:124200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00860823G → E in DD. 1 PublicationCorresponds to variant dbSNP:rs28929478EnsemblClinVar.1
Natural variantiVAR_00860939N → T in DD. 1 Publication1
Natural variantiVAR_06339841Missing in DD; comedonal type. 1 Publication1
Natural variantiVAR_00861047K → KMFLTGK in DD. 1
Natural variantiVAR_00861165L → S in DD; severe form. 1
Natural variantiVAR_07968574 – 108Missing in DD. 1 PublicationAdd BLAST35
Natural variantiVAR_079686101N → S in DD. 1 Publication1
Natural variantiVAR_008612131R → Q in DD. 1 PublicationCorresponds to variant dbSNP:rs121912738EnsemblClinVar.1
Natural variantiVAR_008613160P → L in DD. 1
Natural variantiVAR_008614186S → P in DD. 1
Natural variantiVAR_079687194 – 197Missing in DD. 1 Publication4
Natural variantiVAR_008615211G → D in DD; severe form. 1
Natural variantiVAR_008616223V → M in DD. 1
Natural variantiVAR_008617268C → F in DD; haemorrhagic lesions. Corresponds to variant dbSNP:rs121912733EnsemblClinVar.1
Natural variantiVAR_008618310G → V in DD. 1
Natural variantiVAR_008619318C → R in DD; severe form. 1
Natural variantiVAR_008620348I → T in DD. 1
Natural variantiVAR_009508357T → K in DD. 1 Publication1
Natural variantiVAR_008621412E → G in DD. 1
Natural variantiVAR_008622495S → F in DD. 1 Publication1
Natural variantiVAR_008623560C → R in DD; neuropsychiatric phenotype. 1 PublicationCorresponds to variant dbSNP:rs121912734EnsemblClinVar.1
Natural variantiVAR_079688590L → P in DD. 1 Publication1
Natural variantiVAR_079689625G → A in DD. 1 Publication1
Natural variantiVAR_079690626D → E in DD. 1 Publication1
Natural variantiVAR_079691666 – 1042Missing in DD. 1 PublicationAdd BLAST377
Natural variantiVAR_079692672A → P in DD. 1 Publication1
Natural variantiVAR_008624675F → S in DD; multiple neuropsychiatric features. 1
Natural variantiVAR_008625683K → E in DD; depression. 1
Natural variantiVAR_079693691Q → P in DD. 1 Publication1
Natural variantiVAR_008626702D → N in DD; moderate form. 1
Natural variantiVAR_008627745A → D in DD; moderate form. 1
Natural variantiVAR_009509749G → R in DD. 1 Publication1
Natural variantiVAR_079694750R → W in DD. 1 Publication1
Natural variantiVAR_008628754Missing in DD. 1
Natural variantiVAR_008629765S → L in DD. 1 Publication1
Natural variantiVAR_079695765S → W in DD. 1 Publication1
Natural variantiVAR_008630767N → S in DD; haemorrhagic lesions and neuropsychiatric phenotype. Corresponds to variant dbSNP:rs121912732EnsemblClinVar.1
Natural variantiVAR_008631769G → R in DD. Corresponds to variant dbSNP:rs121912736EnsemblClinVar.1
Natural variantiVAR_008632803A → T in DD; mild/moderate form. 1
Natural variantiVAR_008633838A → P in DD; severe form; petit mal epilepsy. 1
Natural variantiVAR_008634843V → F in DD; depression. 1
Natural variantiVAR_079696849G → GG in DD. 1 Publication1
Natural variantiVAR_008635875C → G in DD; retinitis pigmentosa. 1
Natural variantiVAR_079697900L → P in DD. 1 Publication1
Natural variantiVAR_008636920S → Y in DD; mild/moderate/severe form; one patient with epilepsy. 1
Natural variantiVAR_008637943H → R in DD; learning difficulties. 1 Publication1
Natural variantiVAR_008638975P → R in DD. 1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi488
MalaCardsiATP2A2
MIMi101900 phenotype
124200 phenotype
OpenTargetsiENSG00000174437
Orphaneti79151 Acrokeratosis verruciformis of Hopf
218 Darier disease
PharmGKBiPA71

Chemistry databases

ChEMBLiCHEMBL3901

Polymorphism and mutation databases

BioMutaiATP2A2
DMDMi114312

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000461961 – 1042Sarcoplasmic/endoplasmic reticulum calcium ATPase 2Add BLAST1042

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38PhosphoserineBy similarity1
Modified residuei294Nitrated tyrosine1 Publication1
Modified residuei295Nitrated tyrosine1 Publication1
Modified residuei441PhosphothreonineBy similarity1
Modified residuei531PhosphoserineBy similarity1
Modified residuei580PhosphoserineCombined sources1
Modified residuei663PhosphoserineCombined sources1

Post-translational modificationi

Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity.1 Publication

Keywords - PTMi

Nitration, Phosphoprotein

Proteomic databases

EPDiP16615
MaxQBiP16615
PaxDbiP16615
PeptideAtlasiP16615
PRIDEiP16615
ProteomicsDBi53385
53386 [P16615-2]
53387 [P16615-3]
53388 [P16615-4]
53389 [P16615-5]

PTM databases

iPTMnetiP16615
PhosphoSitePlusiP16615
SwissPalmiP16615

Expressioni

Tissue specificityi

Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart.3 Publications

Gene expression databases

BgeeiENSG00000174437 Expressed in 244 organ(s), highest expression level in heart
CleanExiHS_ATP2A2
ExpressionAtlasiP16615 baseline and differential
GenevisibleiP16615 HS

Organism-specific databases

HPAiHPA062605
HPA067892

Interactioni

Subunit structurei

Interacts with sarcolipin (SLN) (By similarity). Interacts with phospholamban (PLN) (By similarity). Interacts with myoregulin (MRLN) (By similarity). Interacts with DWORF (By similarity). Isoform 1 interacts with TRAM2 (via C-terminus) (PubMed:14749390). Interacts with HAX1 (PubMed:18971376). Interacts with S100A8 and S100A9 (By similarity). Interacts with SLC35G1 and STIM1 (PubMed:22084111). Interacts with TMEM203 (PubMed:25996873). Interacts with TMEM64 and PDIA3 (By similarity).By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
OPRD1P411433EBI-358933,EBI-2624456

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106978, 82 interactors
CORUMiP16615
DIPiDIP-33868N
IntActiP16615, 81 interactors
MINTiP16615
STRINGi9606.ENSP00000440045

Structurei

3D structure databases

ProteinModelPortaliP16615
SMRiP16615
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni370 – 400Interaction with phospholamban 1By similarityAdd BLAST31
Regioni575 – 594Interaction with HAX11 PublicationAdd BLAST20
Regioni787 – 807Interaction with phospholamban 2By similarityAdd BLAST21
Regioni788 – 1042Interaction with TMEM64 and PDIA3By similarityAdd BLAST255

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0202 Eukaryota
COG0474 LUCA
GeneTreeiENSGT00890000139334
HOGENOMiHOG000265621
HOVERGENiHBG105648
InParanoidiP16615
KOiK05853
OMAiDPPTPLW
OrthoDBiEOG091G01LE
PhylomeDBiP16615
TreeFamiTF300651

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR006068 ATPase_P-typ_cation-transptr_C
IPR004014 ATPase_P-typ_cation-transptr_N
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR005782 P-type_ATPase_IIA
IPR001757 P_typ_ATPase
IPR030332 SERCA1/2
PANTHERiPTHR42861:SF18 PTHR42861:SF18, 1 hit
PfamiView protein in Pfam
PF00689 Cation_ATPase_C, 1 hit
PF00690 Cation_ATPase_N, 1 hit
PRINTSiPR00120 HATPASE
SMARTiView protein in SMART
SM00831 Cation_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01116 ATPase-IIA1_Ca, 1 hit
TIGR01494 ATPase_P-type, 2 hits
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket
Note: SERCA2 transcripts differ only in their 3'-UTR region and are expressed in a tissue-specific manner.

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P16615-1) [UniParc]FASTAAdd to basket
Also known as: ATP2A2B, Class 2-4, HK1, SERCA2b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MENAHTKTVE EVLGHFGVNE STGLSLEQVK KLKERWGSNE LPAEEGKTLL
60 70 80 90 100
ELVIEQFEDL LVRILLLAAC ISFVLAWFEE GEETITAFVE PFVILLILVA
110 120 130 140 150
NAIVGVWQER NAENAIEALK EYEPEMGKVY RQDRKSVQRI KAKDIVPGDI
160 170 180 190 200
VEIAVGDKVP ADIRLTSIKS TTLRVDQSIL TGESVSVIKH TDPVPDPRAV
210 220 230 240 250
NQDKKNMLFS GTNIAAGKAM GVVVATGVNT EIGKIRDEMV ATEQERTPLQ
260 270 280 290 300
QKLDEFGEQL SKVISLICIA VWIINIGHFN DPVHGGSWIR GAIYYFKIAV
310 320 330 340 350
ALAVAAIPEG LPAVITTCLA LGTRRMAKKN AIVRSLPSVE TLGCTSVICS
360 370 380 390 400
DKTGTLTTNQ MSVCRMFILD RVEGDTCSLN EFTITGSTYA PIGEVHKDDK
410 420 430 440 450
PVNCHQYDGL VELATICALC NDSALDYNEA KGVYEKVGEA TETALTCLVE
460 470 480 490 500
KMNVFDTELK GLSKIERANA CNSVIKQLMK KEFTLEFSRD RKSMSVYCTP
510 520 530 540 550
NKPSRTSMSK MFVKGAPEGV IDRCTHIRVG STKVPMTSGV KQKIMSVIRE
560 570 580 590 600
WGSGSDTLRC LALATHDNPL RREEMHLEDS ANFIKYETNL TFVGCVGMLD
610 620 630 640 650
PPRIEVASSV KLCRQAGIRV IMITGDNKGT AVAICRRIGI FGQDEDVTSK
660 670 680 690 700
AFTGREFDEL NPSAQRDACL NARCFARVEP SHKSKIVEFL QSFDEITAMT
710 720 730 740 750
GDGVNDAPAL KKAEIGIAMG SGTAVAKTAS EMVLADDNFS TIVAAVEEGR
760 770 780 790 800
AIYNNMKQFI RYLISSNVGE VVCIFLTAAL GFPEALIPVQ LLWVNLVTDG
810 820 830 840 850
LPATALGFNP PDLDIMNKPP RNPKEPLISG WLFFRYLAIG CYVGAATVGA
860 870 880 890 900
AAWWFIAADG GPRVSFYQLS HFLQCKEDNP DFEGVDCAIF ESPYPMTMAL
910 920 930 940 950
SVLVTIEMCN ALNSLSENQS LLRMPPWENI WLVGSICLSM SLHFLILYVE
960 970 980 990 1000
PLPLIFQITP LNVTQWLMVL KISLPVILMD ETLKFVARNY LEPGKECVQP
1010 1020 1030 1040
ATKSCSFSAC TDGISWPFVL LIMPLVIWVY STDTNFSDMF WS
Note: Ubiquitous housekeeping isoform.
Length:1,042
Mass (Da):114,757
Last modified:August 1, 1990 - v1
Checksum:i5462FF2DA7FB630A
GO
Isoform 2 (identifier: P16615-2) [UniParc]FASTAAdd to basket
Also known as: ATP2A2A, Class 1, HK2, SERCA2a

The sequence of this isoform differs from the canonical sequence as follows:
     994-1042: GKECVQPATKSCSFSACTDGISWPFVLLIMPLVIWVYSTDTNFSDMFWS → AILE

Note: Cardiac/slow twitch, muscle specific isoform. Has a lower affinity for calcium and a higher catalytic turnover rate.
Show »
Length:997
Mass (Da):109,691
Checksum:iDD57D12A2B24FEC1
GO
Isoform 3 (identifier: P16615-3) [UniParc]FASTAAdd to basket
Also known as: SERCA2C

The sequence of this isoform differs from the canonical sequence as follows:
     994-1042: GKECVQPATKSCSFSACTDGISWPFVLLIMPLVIWVYSTDTNFSDMFWS → VLSSEL

Note: May be due to intron retention. Shows a lower apparent affinity for cytosolic calcium than isoform 2 and a catalytic turnover rate similar to isoform 1.
Show »
Length:999
Mass (Da):109,893
Checksum:iF6BE03E546453B24
GO
Isoform 4 (identifier: P16615-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     155-181: Missing.

Note: No experimental confirmation available.
Show »
Length:1,015
Mass (Da):111,847
Checksum:i6C99B5C382834A63
GO
Isoform 5 (identifier: P16615-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     994-1042: GKECVQPATKSCSFSACTDGISWPFVLLIMPLVIWVYSTDTNFSDMFWS → DIIK

Note: No experimental confirmation available.
Show »
Length:997
Mass (Da):109,734
Checksum:iD570A12D5B24FEC1
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C5W9H7C5W9_HUMAN
Sarcoplasmic/endoplasmic reticulum ...
ATP2A2
933Annotation score:
J3QSY6J3QSY6_HUMAN
Sarcoplasmic/endoplasmic reticulum ...
ATP2A2
50Annotation score:
A0A0C4DH86A0A0C4DH86_HUMAN
Sarcoplasmic/endoplasmic reticulum ...
ATP2A2
46Annotation score:
F8W1Z7F8W1Z7_HUMAN
Sarcoplasmic/endoplasmic reticulum ...
ATP2A2
44Annotation score:

Sequence cautioni

The sequence BAG57266 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00860823G → E in DD. 1 PublicationCorresponds to variant dbSNP:rs28929478EnsemblClinVar.1
Natural variantiVAR_00860939N → T in DD. 1 Publication1
Natural variantiVAR_06339841Missing in DD; comedonal type. 1 Publication1
Natural variantiVAR_00861047K → KMFLTGK in DD. 1
Natural variantiVAR_00861165L → S in DD; severe form. 1
Natural variantiVAR_07968574 – 108Missing in DD. 1 PublicationAdd BLAST35
Natural variantiVAR_079686101N → S in DD. 1 Publication1
Natural variantiVAR_008612131R → Q in DD. 1 PublicationCorresponds to variant dbSNP:rs121912738EnsemblClinVar.1
Natural variantiVAR_008613160P → L in DD. 1
Natural variantiVAR_008614186S → P in DD. 1
Natural variantiVAR_079687194 – 197Missing in DD. 1 Publication4
Natural variantiVAR_008615211G → D in DD; severe form. 1
Natural variantiVAR_008616223V → M in DD. 1
Natural variantiVAR_008617268C → F in DD; haemorrhagic lesions. Corresponds to variant dbSNP:rs121912733EnsemblClinVar.1
Natural variantiVAR_008618310G → V in DD. 1
Natural variantiVAR_008619318C → R in DD; severe form. 1
Natural variantiVAR_008620348I → T in DD. 1
Natural variantiVAR_009508357T → K in DD. 1 Publication1
Natural variantiVAR_008621412E → G in DD. 1
Natural variantiVAR_008622495S → F in DD. 1 Publication1
Natural variantiVAR_008623560C → R in DD; neuropsychiatric phenotype. 1 PublicationCorresponds to variant dbSNP:rs121912734EnsemblClinVar.1
Natural variantiVAR_079688590L → P in DD. 1 Publication1
Natural variantiVAR_017532602P → L in AKV; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912737EnsemblClinVar.1
Natural variantiVAR_079689625G → A in DD. 1 Publication1
Natural variantiVAR_079690626D → E in DD. 1 Publication1
Natural variantiVAR_079691666 – 1042Missing in DD. 1 PublicationAdd BLAST377
Natural variantiVAR_079692672A → P in DD. 1 Publication1
Natural variantiVAR_008624675F → S in DD; multiple neuropsychiatric features. 1
Natural variantiVAR_008625683K → E in DD; depression. 1
Natural variantiVAR_079693691Q → P in DD. 1 Publication1
Natural variantiVAR_008626702D → N in DD; moderate form. 1
Natural variantiVAR_008627745A → D in DD; moderate form. 1
Natural variantiVAR_009509749G → R in DD. 1 Publication1
Natural variantiVAR_079694750R → W in DD. 1 Publication1
Natural variantiVAR_008628754Missing in DD. 1
Natural variantiVAR_008629765S → L in DD. 1 Publication1
Natural variantiVAR_079695765S → W in DD. 1 Publication1
Natural variantiVAR_008630767N → S in DD; haemorrhagic lesions and neuropsychiatric phenotype. Corresponds to variant dbSNP:rs121912732EnsemblClinVar.1
Natural variantiVAR_008631769G → R in DD. Corresponds to variant dbSNP:rs121912736EnsemblClinVar.1
Natural variantiVAR_008632803A → T in DD; mild/moderate form. 1
Natural variantiVAR_008633838A → P in DD; severe form; petit mal epilepsy. 1
Natural variantiVAR_008634843V → F in DD; depression. 1
Natural variantiVAR_079696849G → GG in DD. 1 Publication1
Natural variantiVAR_008635875C → G in DD; retinitis pigmentosa. 1
Natural variantiVAR_079697900L → P in DD. 1 Publication1
Natural variantiVAR_008636920S → Y in DD; mild/moderate/severe form; one patient with epilepsy. 1
Natural variantiVAR_008637943H → R in DD; learning difficulties. 1 Publication1
Natural variantiVAR_008638975P → R in DD. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039392155 – 181Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_000358994 – 1042GKECV…DMFWS → AILE in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_039393994 – 1042GKECV…DMFWS → VLSSEL in isoform 3. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_039394994 – 1042GKECV…DMFWS → DIIK in isoform 5. CuratedAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M23114 mRNA Translation: AAA53193.1
M23116 Genomic DNA Translation: AAA52757.1
M23115 mRNA Translation: AAA53194.1
M23278, M23116 Genomic DNA Translation: AAA52758.1
AC006088 Genomic DNA No translation available.
BC035588 mRNA Translation: AAH35588.1
AK293877 mRNA Translation: BAG57266.1 Different initiation.
AY186578 mRNA Translation: AAO47398.1
CCDSiCCDS9143.1 [P16615-2]
CCDS9144.1 [P16615-1]
PIRiA31981
B31981
RefSeqiNP_001672.1, NM_001681.3 [P16615-2]
NP_733765.1, NM_170665.3 [P16615-1]
XP_005253945.1, XM_005253888.2 [P16615-3]
XP_011536704.1, XM_011538402.2 [P16615-3]
UniGeneiHs.506759

Genome annotation databases

EnsembliENST00000308664; ENSP00000311186; ENSG00000174437 [P16615-2]
ENST00000539276; ENSP00000440045; ENSG00000174437 [P16615-1]
GeneIDi488
KEGGihsa:488
UCSCiuc001tqk.5 human [P16615-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M23114 mRNA Translation: AAA53193.1
M23116 Genomic DNA Translation: AAA52757.1
M23115 mRNA Translation: AAA53194.1
M23278, M23116 Genomic DNA Translation: AAA52758.1
AC006088 Genomic DNA No translation available.
BC035588 mRNA Translation: AAH35588.1
AK293877 mRNA Translation: BAG57266.1 Different initiation.
AY186578 mRNA Translation: AAO47398.1
CCDSiCCDS9143.1 [P16615-2]
CCDS9144.1 [P16615-1]
PIRiA31981
B31981
RefSeqiNP_001672.1, NM_001681.3 [P16615-2]
NP_733765.1, NM_170665.3 [P16615-1]
XP_005253945.1, XM_005253888.2 [P16615-3]
XP_011536704.1, XM_011538402.2 [P16615-3]
UniGeneiHs.506759

3D structure databases

ProteinModelPortaliP16615
SMRiP16615
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106978, 82 interactors
CORUMiP16615
DIPiDIP-33868N
IntActiP16615, 81 interactors
MINTiP16615
STRINGi9606.ENSP00000440045

Chemistry databases

ChEMBLiCHEMBL3901

Protein family/group databases

TCDBi3.A.3.2.7 the p-type atpase (p-atpase) superfamily

PTM databases

iPTMnetiP16615
PhosphoSitePlusiP16615
SwissPalmiP16615

Polymorphism and mutation databases

BioMutaiATP2A2
DMDMi114312

Proteomic databases

EPDiP16615
MaxQBiP16615
PaxDbiP16615
PeptideAtlasiP16615
PRIDEiP16615
ProteomicsDBi53385
53386 [P16615-2]
53387 [P16615-3]
53388 [P16615-4]
53389 [P16615-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308664; ENSP00000311186; ENSG00000174437 [P16615-2]
ENST00000539276; ENSP00000440045; ENSG00000174437 [P16615-1]
GeneIDi488
KEGGihsa:488
UCSCiuc001tqk.5 human [P16615-1]

Organism-specific databases

CTDi488
DisGeNETi488
EuPathDBiHostDB:ENSG00000174437.16
GeneCardsiATP2A2
HGNCiHGNC:812 ATP2A2
HPAiHPA062605
HPA067892
MalaCardsiATP2A2
MIMi101900 phenotype
108740 gene
124200 phenotype
neXtProtiNX_P16615
OpenTargetsiENSG00000174437
Orphaneti79151 Acrokeratosis verruciformis of Hopf
218 Darier disease
PharmGKBiPA71
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0202 Eukaryota
COG0474 LUCA
GeneTreeiENSGT00890000139334
HOGENOMiHOG000265621
HOVERGENiHBG105648
InParanoidiP16615
KOiK05853
OMAiDPPTPLW
OrthoDBiEOG091G01LE
PhylomeDBiP16615
TreeFamiTF300651

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-5578775 Ion homeostasis
R-HSA-936837 Ion transport by P-type ATPases
SignaLinkiP16615
SIGNORiP16615

Miscellaneous databases

ChiTaRSiATP2A2 human
GenomeRNAii488
PROiPR:P16615
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174437 Expressed in 244 organ(s), highest expression level in heart
CleanExiHS_ATP2A2
ExpressionAtlasiP16615 baseline and differential
GenevisibleiP16615 HS

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR006068 ATPase_P-typ_cation-transptr_C
IPR004014 ATPase_P-typ_cation-transptr_N
IPR023299 ATPase_P-typ_cyto_dom_N
IPR018303 ATPase_P-typ_P_site
IPR023298 ATPase_P-typ_TM_dom_sf
IPR008250 ATPase_P-typ_transduc_dom_A_sf
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR005782 P-type_ATPase_IIA
IPR001757 P_typ_ATPase
IPR030332 SERCA1/2
PANTHERiPTHR42861:SF18 PTHR42861:SF18, 1 hit
PfamiView protein in Pfam
PF00689 Cation_ATPase_C, 1 hit
PF00690 Cation_ATPase_N, 1 hit
PRINTSiPR00120 HATPASE
SMARTiView protein in SMART
SM00831 Cation_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01116 ATPase-IIA1_Ca, 1 hit
TIGR01494 ATPase_P-type, 2 hits
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAT2A2_HUMAN
AccessioniPrimary (citable) accession number: P16615
Secondary accession number(s): A6NDN7
, B4DF05, P16614, Q86VJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: November 7, 2018
This is version 220 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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