• Gene id: 6547

Gene Summary

• Gene Symbol: SLC8A3   Gene   UCSC   Ensembl
• Aliases: NCX3
• Gene name: solute carrier family 8 member A3
• Alternate names: sodium/calcium exchanger 3, Na(+)/Ca(2+)-exchange protein 3, sodium/calcium exchanger SLC8A3, solute carrier family 8 (sodium/calcium exchanger), member 3,
• Gene location: 14q24.2 (70189625: 70044214)     Exons: 8     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions an
• OMIM: 607991

Protein Summary

• Protein general information: P57103  
  • Name: Sodium/calcium exchanger 3 (Na(+)/Ca(2+) exchange protein 3) (Solute carrier family 8 member 3)
  • Length: 927  
  • Mass: 103010
  • Tissue specificity: Isoform 2 is expressed in brain and skeletal muscle. Isoform 3 is expressed in excitable cells of brain, retina and skeletal muscle. Isoform 4 is expressed in skeletal muscle. {ECO
• Sequence:

  MAWLRLQPLTSAFLHFGLVTFVLFLNGLRAEAGGSGDVPSTGQNNESCSGSSDCKEGVILPIWYPENPSLGDKIA
  RVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGETSTTTIRVWNETVSNLTLMALGSSAPEILL
  SLIEVCGHGFIAGDLGPSTIVGSAAFNMFIIIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMILAVFS
  PGVVQVWEGLLTLFFFPVCVLLAWVADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKGIEMDGKMMNSHFLDGN
  LVPLEGKEVDESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATRMMTGAGNILKKHAAE
  QAKKASSMSEVHTDEPEDFISKVFFDPCSYQCLENCGAVLLTVVRKGGDMSKTMYVDYKTEDGSANAGADYEFTE
  GTVVLKPGETQKEFSVGIIDDDIFEEDEHFFVRLSNVRIEEEQPEEGMPPAIFNSLPLPRAVLASPCVATVTILD
  DDHAGIFTFECDTIHVSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIRV
  KIVDEEEYERQENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYE
  FKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTE
  YCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVT
  GSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLA
  TTWLFVSLWLLYILFATLEAYCYIKGF

• Structural information:
  • Protein Domains: (386..48-)
    (/note="Calx-beta-1)
    (519..61-)
    (/note="Calx-beta-2")
  • Interpro: IPR038081  IPR003644  IPR004836  IPR032452  IPR004837  
  • STRING: ENSP00000370669
• Other Databases: GeneCards:  SLC8A3  Malacards:  SLC8A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045202	synapse	IDA	cellular component
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0098815	modulation of excitatory postsynaptic potential	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0043679	axon terminus	ISS	cellular component
GO:0050808	synapse organization	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:0071901	negative regulation of protein serine/threonine kinase activity	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0071456	cellular response to hypoxia	ISS	biological process
GO:0060291	long-term synaptic potentiation	ISS	biological process
GO:0051560	mitochondrial calcium ion homeostasis	ISS	biological process
GO:0042552	myelination	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0014819	regulation of skeletal muscle contraction	ISS	biological process
GO:0007613	memory	ISS	biological process
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0042383	sarcolemma	ISS	cellular component
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0005741	mitochondrial outer membrane	ISS	cellular component
GO:0005432	calcium:sodium antiporter activity	ISS	molecular function
GO:0070588	calcium ion transmembrane transport	ISS	biological process
GO:0048709	oligodendrocyte differentiation	ISS	biological process
GO:0007612	learning	ISS	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0015297	antiporter activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0030001	metal ion transport	IEA	biological process
GO:0015368	calcium:cation antiporter activity	IEA	molecular function
GO:0014819	regulation of skeletal muscle contraction	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:1990034	calcium ion export across plasma membrane	IEA	biological process
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0021537	telencephalon development	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0099580	ion antiporter activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0098815	modulation of excitatory postsynaptic potential	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:1905060	calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA	molecular function
GO:0098703	calcium ion import across plasma membrane	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0060402	calcium ion transport into cytosol	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005432	calcium:sodium antiporter activity	IEA	molecular function
GO:0016528	sarcoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005886	plasma membrane	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray