• Gene id: 6543

Gene Summary

• Gene Symbol: SLC8A2   Gene   UCSC   Ensembl
• Aliases: NCX2
• Gene name: solute carrier family 8 member A2
• Alternate names: sodium/calcium exchanger 2, Na(+)/Ca(2+)-exchange protein 2, Na+/Ca2+-exchanging protein Nac2, solute carrier family 8 (sodium/calcium exchanger), member 2, solute carrier family 8 member 2,
• Gene location: 19q13.32 (47471892: 47428016)     Exons: 11     NC_000019.10
• OMIM: 600968

Protein Summary

• Protein general information: Q9UPR5  
  • Name: Sodium/calcium exchanger 2 (Na(+)/Ca(2+) exchange protein 2) (Solute carrier family 8 member 2)
  • Length: 921  
  • Mass: 100368
• Sequence:

  MAPLALVGVTLLLAAPPCSGAATPTPSLPPPPANDSDTSTGGCQGSYRCQPGVLLPVWEPDDPSLGDKAARAVVY
  FVAMVYMFLGVSIIADRFMAAIEVITSKEKEITITKANGETSVGTVRIWNETVSNLTLMALGSSAPEILLSVIEV
  CGHNFQAGELGPGTIVGSAAFNMFVVIAVCIYVIPAGESRKIKHLRVFFVTASWSIFAYVWLYLILAVFSPGVVQ
  VWEALLTLVFFPVCVVFAWMADKRLLFYKYVYKRYRTDPRSGIIIGAEGDPPKSIELDGTFVGAEAPGELGGLGP
  GPAEARELDASRREVIQILKDLKQKHPDKDLEQLVGIANYYALLHQQKSRAFYRIQATRLMTGAGNVLRRHAADA
  SRRAAPAEGAGEDEDDGASRIFFEPSLYHCLENCGSVLLSVTCQGGEGNSTFYVDYRTEDGSAKAGSDYEYSEGT
  LVFKPGETQKELRIGIIDDDIFEEDEHFFVRLLNLRVGDAQGMFEPDGGGRPKGRLVAPLLATVTILDDDHAGIF
  SFQDRLLHVSECMGTVDVRVVRSSGARGTVRLPYRTVDGTARGGGVHYEDACGELEFGDDETMKTLQVKIVDDEE
  YEKKDNFFIELGQPQWLKRGISALLLNQGDGDRKLTAEEEEARRIAEMGKPVLGENCRLEVIIEESYDFKNTVDK
  LIKKTNLALVIGTHSWREQFLEAITVSAGDEEEEEDGSREERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWA
  CFGVSILVIGLLTALIGDLASHFGCTVGLKDSVNAVVFVALGTSIPDTFASKVAALQDQCADASIGNVTGSNAVN
  VFLGLGVAWSVAAVYWAVQGRPFEVRTGTLAFSVTLFTVFAFVGIAVLLYRRRPHIGGELGGPRGPKLATTALFL
  GLWLLYILFASLEAYCHIRGF

• Structural information:
  • Protein Domains: (384..48-)
    (/note="Calx-beta-1)
    (512..61-)
    (/note="Calx-beta-2")
  • Interpro: IPR038081  IPR003644  IPR004836  IPR032452  IPR004837  
  • STRING: ENSP00000236877
• Other Databases: GeneCards:  SLC8A2  Malacards:  SLC8A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098793	presynapse	IDA	cellular component
GO:0005886	plasma membrane	IC	is active in
GO:1905060	calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	ISS	molecular function
GO:0015081	sodium ion transmembrane transporter activity	ISS	molecular function
GO:0015085	calcium ion transmembrane transporter activity	ISS	molecular function
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0002931	response to ischemia	ISS	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0106056	regulation of calcineurin-mediated signaling	ISS	biological process
GO:0099608	regulation of action potential firing pattern	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0070050	neuron cellular homeostasis	ISS	biological process
GO:1990034	calcium ion export across plasma membrane	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0098815	modulation of excitatory postsynaptic potential	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0043679	axon terminus	ISS	cellular component
GO:0050808	synapse organization	ISS	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0060291	long-term synaptic potentiation	ISS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0010468	regulation of gene expression	ISS	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0050890	cognition	ISS	biological process
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	ISS	biological process
GO:0060291	long-term synaptic potentiation	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0007613	memory	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005432	calcium:sodium antiporter activity	ISS	molecular function
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	ISS	biological process
GO:0007612	learning	ISS	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007154	cell communication	IEA	biological process
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0015297	antiporter activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0098815	modulation of excitatory postsynaptic potential	IEA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0050890	cognition	IEA	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0015085	calcium ion transmembrane transporter activity	IEA	molecular function
GO:0007613	memory	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:1990034	calcium ion export across plasma membrane	IEA	biological process
GO:0106056	regulation of calcineurin-mediated signaling	IEA	biological process
GO:0099608	regulation of action potential firing pattern	IEA	biological process
GO:0070050	neuron cellular homeostasis	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04740	Olfactory transduction
hsa04371	Apelin signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Alzheimer's disease	PMID:21382638
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq