• Gene id: 488

Gene Summary

• Gene Symbol: ATP2A2   Gene   UCSC   Ensembl
• Aliases: ATP2B, DAR, DD, SERCA2
• Gene name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
• Alternate names: sarcoplasmic/endoplasmic reticulum calcium ATPase 2, ATPase Ca++ transporting cardiac muscle slow twitch 2, ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2, SR Ca(2+)-ATPase 2, calcium pump 2, calcium-transporting ATPase sarcoplasmic reticulum type, slow,
• Gene location: 12q24.11 (110281246: 110351092)     Exons: 21     NC_000012.12
• Gene summary(Entrez): This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cyt
• OMIM: 108740

SNPs

rs10835638

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>A
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T|SEQ=[G/A/T]|GENE=FSHB
LOC105376607   105376607

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

Protein Summary

• Protein general information: P16615  
  • Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) (SR Ca(2+) ATPase 2) (EC 7.2.2.10) (Calcium pump 2) (Calcium transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase)
  • Length: 1042  
  • Mass: 114757
  • Tissue specificity: Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at low
• Sequence:

  MENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDLLVRILLLAACISFVL
  AWFEEGEETITAFVEPFVILLILVANAIVGVWQERNAENAIEALKEYEPEMGKVYRQDRKSVQRIKAKDIVPGDI
  VEIAVGDKVPADIRLTSIKSTTLRVDQSILTGESVSVIKHTDPVPDPRAVNQDKKNMLFSGTNIAAGKAMGVVVA
  TGVNTEIGKIRDEMVATEQERTPLQQKLDEFGEQLSKVISLICIAVWIINIGHFNDPVHGGSWIRGAIYYFKIAV
  ALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMSVCRMFILDRVEGD
  TCSLNEFTITGSTYAPIGEVHKDDKPVNCHQYDGLVELATICALCNDSALDYNEAKGVYEKVGEATETALTCLVE
  KMNVFDTELKGLSKIERANACNSVIKQLMKKEFTLEFSRDRKSMSVYCTPNKPSRTSMSKMFVKGAPEGVIDRCT
  HIRVGSTKVPMTSGVKQKIMSVIREWGSGSDTLRCLALATHDNPLRREEMHLEDSANFIKYETNLTFVGCVGMLD
  PPRIEVASSVKLCRQAGIRVIMITGDNKGTAVAICRRIGIFGQDEDVTSKAFTGREFDELNPSAQRDACLNARCF
  ARVEPSHKSKIVEFLQSFDEITAMTGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNFSTIVAAVEEGR
  AIYNNMKQFIRYLISSNVGEVVCIFLTAALGFPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMNKPPRNPKE
  PLISGWLFFRYLAIGCYVGAATVGAAAWWFIAADGGPRVSFYQLSHFLQCKEDNPDFEGVDCAIFESPYPMTMAL
  SVLVTIEMCNALNSLSENQSLLRMPPWENIWLVGSICLSMSLHFLILYVEPLPLIFQITPLNVTQWLMVLKISLP
  VILMDETLKFVARNYLEPGKECVQPATKSCSFSACTDGISWPFVLLIMPLVIWVYSTDTNFSDMFWS

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005782  IPR001757  IPR030332  
  • Prosite: PS00154
  • PDB: 5ZTF 6JJU
  • PDBsum: 5ZTF 6JJU
  • DIP: 33868
  • STRING: ENSP00000440045
• Other Databases: GeneCards:  ATP2A2  Malacards:  ATP2A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044325	ion channel binding	IPI	molecular function
GO:0006874	cellular calcium ion homeostasis	IMP	biological process
GO:1900121	negative regulation of receptor binding	IMP	biological process
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IBA	biological process
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	IBA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0016887	ATPase activity	IBA	molecular function
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0008544	epidermis development	TAS	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990036	calcium ion import into sarcoplasmic reticulum	IEA	biological process
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	IEA	biological process
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0034605	cellular response to heat	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0012506	vesicle membrane	IEA	cellular component
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0097470	ribbon synapse	IEA	cellular component
GO:0045822	negative regulation of heart contraction	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0033292	T-tubule organization	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0014898	cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0014883	transition between fast and slow fiber	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0120025	plasma membrane bounded cell projection	IEA	cellular component
GO:0086036	regulation of cardiac muscle cell membrane potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0070296	sarcoplasmic reticulum calcium ion transport	IEA	biological process
GO:0061831	apical ectoplasmic specialization	IEA	cellular component
GO:0055119	relaxation of cardiac muscle	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0031775	lutropin-choriogonadotropic hormone receptor binding	IEA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003009	skeletal muscle contraction	IEA	biological process
GO:1903233	regulation of calcium ion-dependent exocytosis of neurotransmitter	IEA	biological process
GO:0070296	sarcoplasmic reticulum calcium ion transport	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006996	organelle organization	IEA	biological process
GO:0006984	ER-nucleus signaling pathway	IEA	biological process
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IDA	molecular function
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	IC	molecular function
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	ISS	molecular function
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:1903515	calcium ion transport from cytosol to endoplasmic reticulum	IDA	biological process
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	ISS	biological process
GO:1990036	calcium ion import into sarcoplasmic reticulum	ISS	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	ISS	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:1990036	calcium ion import into sarcoplasmic reticulum	IC	biological process
GO:0010460	positive regulation of heart rate	TAS	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	IC	biological process
GO:0032470	positive regulation of endoplasmic reticulum calcium ion concentration	IDA	biological process
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0070296	sarcoplasmic reticulum calcium ion transport	TAS	biological process
GO:0070296	sarcoplasmic reticulum calcium ion transport	TAS	biological process
GO:0086036	regulation of cardiac muscle cell membrane potential	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0044548	S100 protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05017	Spinocerebellar ataxia
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04260	Cardiac muscle contraction
hsa04972	Pancreatic secretion
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Darier disease	KEGG:H00715
Acrokeratosis verruciformis	KEGG:H00755
Darier disease	KEGG:H00715
Acrokeratosis verruciformis	KEGG:H00755
Essential hypertension	PMID:20687374
Keratosis follicularis	PMID:10080178
Pulmonary hypertension	PMID:23804254
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)