• Gene id: 491

Gene Summary

• Gene Symbol: ATP2B2   Gene   UCSC   Ensembl
• Aliases: PMCA2, PMCA2a, PMCA2i
• Gene name: ATPase plasma membrane Ca2+ transporting 2
• Alternate names: plasma membrane calcium-transporting ATPase 2, ATPase, Ca++ transporting, plasma membrane 2, plasma membrane Ca(2+)-ATPase, plasma membrane Ca2+ pump 2, plasma membrane calcium ATPase, plasma membrane calcium pump,
• Gene location: 3p25.3 (10707961: 10324022)     Exons: 32     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells
• OMIM: 602337

SNPs

rs397514561

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

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs2292596

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

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: Q01814  
  • Name: Plasma membrane calcium transporting ATPase 2 (PMCA2) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2)
  • Length: 1243  
  • Mass: 136876
  • Tissue specificity: Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing se
• Sequence:

  MGDMTNSDFYSKNQRNESSHGGEFGCTMEELRSLMELRGTEAVVKIKETYGDTEAICRRLKTSPVEGLPGTAPDL
  EKRKQIFGQNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIISLGLSFYHPPGEGNEGCATAQGGAEDEGEAEAG
  WIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVVRAGQVVQIPVAEIVVGDIAQVKYGDLLPAD
  GLFIQGNDLKIDESSLTGESDQVRKSVDKDPMLLSGTHVMEGSGRMLVTAVGVNSQTGIIFTLLGAGGEEEEKKD
  KKGVKKGDGLQLPAADGAAASNAADSANASLVNGKMQDGNVDASQSKAKQQDGAAAMEMQPLKSAEGGDADDRKK
  ASMHKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFTVDTFVVNKKPWLPECTPVYVQYFVKFFIIGVTV
  LVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQAYVGDVHYKEIP
  DPSSINTKTMELLINAIAINSAYTTKILPPEKEGALPRQVGNKTECGLLGFVLDLKQDYEPVRSQMPEEKLYKVY
  TFNSVRKSMSTVIKLPDESFRMYSKGASEIVLKKCCKILNGAGEPRVFRPRDRDEMVKKVIEPMACDGLRTICVA
  YRDFPSSPEPDWDNENDILNELTCICVVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAIKCGIIHP
  GEDFLCLEGKEFNRRIRNEKGEIEQERIDKIWPKLRVLARSSPTDKHTLVKGIIDSTHTEQRQVVAVTGDGTNDG
  PALKKADVGFAMGIAGTDVAKEASDIILTDDNFSSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACIT
  QDSPLKAVQMLWVNLIMDTFASLALATEPPTETLLLRKPYGRNKPLISRTMMKNILGHAVYQLALIFTLLFVGEK
  MFQIDSGRNAPLHSPPSEHYTIIFNTFVMMQLFNEINARKIHGERNVFDGIFRNPIFCTIVLGTFAIQIVIVQFG
  GKPFSCSPLQLDQWMWCIFIGLGELVWGQVIATIPTSRLKFLKEAGRLTQKEEIPEEELNEDVEEIDHAERELRR
  GQILWFRGLNRIQTQIRVVKAFRSSLYEGLEKPESRTSIHNFMAHPEFRIEDSQPHIPLIDDTDLEEDAALKQNS
  SPPSSLNKNNSAIDSGINLTTDTSKSATSSSPGSPIHSLETSL

• Structural information:
  • Interpro: IPR030322  IPR022141  IPR006068  IPR004014  IPR023299   IPR018303  IPR023298  IPR008250  IPR036412  IPR023214  IPR006408  IPR001757  
  • Prosite: PS00154
  • STRING: ENSP00000353414
• Other Databases: GeneCards:  ATP2B2  Malacards:  ATP2B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0030165	PDZ domain binding	IBA	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IBA	molecular function
GO:0051480	regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0006816	calcium ion transport	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
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:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0030182	neuron differentiation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006816	calcium ion transport	NAS	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	NAS	molecular function
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005886	plasma membrane	NAS	cellular component
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905059	calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905059	calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905059	calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:1905059	calcium-transporting ATPase activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098982	GABA-ergic synapse	IMP	cellular component
GO:0098982	GABA-ergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq