SLC8A2 solute carrier family 8 member A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC8A2provided by HGNC
Official Full Name: solute carrier family 8 member A2provided by HGNC
Primary source: HGNC:HGNC:11069
See related: Ensembl:ENSG00000118160 MIM:601901; AllianceGenome:HGNC:11069
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCX2
Summary: Predicted to enable calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration and calcium:sodium antiporter activity. Predicted to be involved in several processes, including inorganic cation transmembrane transport; learning or memory; and regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within several processes, including modulation of chemical synaptic transmission; regulation of action potential firing pattern; and response to ischemia. Part of presynapse. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Nov 2021]
Expression: Biased expression in brain (RPKM 19.6), endometrium (RPKM 1.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (47428017..47471893, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47931274..47975150, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The downregulation of NCXs is positively correlated with the prognosis of stage II-IV colon cancer.
Title: The downregulation of NCXs is positively correlated with the prognosis of stage II-IV colon cancer.
miR-206 Reduces the Severity of Motor Neuron Degeneration in the Facial Nuclei of the Brainstem in a Mouse Model of SMA.
Title: miR-206 Reduces the Severity of Motor Neuron Degeneration in the Facial Nuclei of the Brainstem in a Mouse Model of SMA.
Methylation on SLC8A2 is associated with the development of anti-tuberculosis drug-induced liver injury.
Title: Genome-Wide Analysis of DNA Methylation and Antituberculosis Drug-Induced Liver Injury in the Han Chinese Population.
Structure-Dynamic Coupling Through Ca(2+)-Binding Regulatory Domains of Mammalian NCX Isoform/Splice Variants
Title: Structure-Dynamic Coupling Through Ca<sup>2+</sup>-Binding Regulatory Domains of Mammalian NCX Isoform/Splice Variants.
SLC8A2 inhibited the angiogenesis of U87MG cells, probably through combined inhibition of endothelium-dependent and endothelium-nondependent angiogenesis (vascular mimicry pattern). Totally, SLC8A2 serves as a tumor suppressor gene and inhibits invasion, angiogenesis and growth of glioblastoma
Title: The Candidate Tumor Suppressor Gene SLC8A2 Inhibits Invasion, Angiogenesis and Growth of Glioblastoma.
Functional studies, as well as mRNA and protein expression analyses, revealed that NCX1 and NCX3, but not NCX2, were divergently modulated during OPC differentiation into oligodendrocyte.
Title: New roles of NCX in glial cells: activation of microglia in ischemia and differentiation of oligodendrocytes.
the large cytosolic loop of NCX1, NCX2, and NCX3 is involved in acquisition of immunosuppressive drug specificity
Title: Immunosuppressive drugs, immunophilins, and functional expression of NCX isoforms.
NCX isoforms (NCX2, NCX3) contribute to mitochondrial Na(+)/Ca(2+) exchange in human DAergic neurons and may act downstream of PINK1 in the prevention of neurodegeneration by m[Ca(2+)] accumulation.
Title: The role of the mitochondrial NCX in the mechanism of neurodegeneration in Parkinson's disease.
Data suggest that NCX-mediated Ca(2+) fluxes normally exist in human ASM (potentially contributing to rapid Ca(2+) fluxes), and contribute to enhanced [Ca(2+)](i) regulation in airway inflammation.
Title: Sodium-calcium exchange in intracellular calcium handling of human airway smooth muscle.
Results demonstrate a selective regulation of NCX1, NCX2 and NCX3 isoforms in Alzheimer's disease cortex, specifically in terminals containing amyloid-beta.
Title: High levels of synaptosomal Na(+)-Ca(2+) exchangers (NCX1, NCX2, NCX3) co-localized with amyloid-beta in human cerebral cortex affected by Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19404 (e-PCR)
- UniSTS:4363

WI-13762 (e-PCR)
- UniSTS:77595

RH66264 (e-PCR)
- UniSTS:47735

D19S596 (e-PCR)
- UniSTS:15315

SLC8A2_3864 (e-PCR)
- UniSTS:462552

Homology

Homologs of the SLC8A2 gene: The SLC8A2 gene is conserved in dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 216 organisms have orthologs with human gene SLC8A2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
enables calcium:sodium antiporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables calcium:sodium antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium:sodium antiporter activity	TAS Traceable Author Statement more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables cation:cation antiporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sodium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cell communication	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in ion transport	TAS Traceable Author Statement more info
involved_in learning	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within learning or memory	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in metal ion transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within modulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron cellular homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of action potential firing pattern	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of calcineurin-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac conduction	TAS Traceable Author Statement more info
acts_upstream_of_or_within regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of short-term neuronal synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in sodium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within synapse organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
is_active_in integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in integral component of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IC Inferred by Curator more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/calcium exchanger 2

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.