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
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
Expression: Biased expression in brain (RPKM 19.6), endometrium (RPKM 1.5) and 1 other tissue See more
Orthologs: mouse all

Genomic context

Location:: 19q13.32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (47428017..47471893, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47931274..47975307, 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?

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.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The aim of this study was to investigate if NCX2 might be a tumour suppressor gene involved in glioma. Results indicate that DNA methylation may play a key role in the transcriptional silencing of NCX2.
Title: Molecular genetic and epigenetic analysis of NCX2/SLC8A2 at 19q13.3 in human gliomas.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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: 160 organisms have orthologs with human gene SLC8A2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium:sodium antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
cell communication	IEA Inferred from Electronic Annotation more info
cellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
ion transport	TAS Traceable Author Statement more info
learning	ISS Inferred from Sequence or Structural Similarity more info
long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
memory	ISS Inferred from Sequence or Structural Similarity more info
regulation of cardiac conduction	TAS Traceable Author Statement more info
regulation of short-term neuronal synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
sodium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cell	IEA Inferred from Electronic Annotation more info
dendritic spine	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
perikaryon	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement 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.

mRNA and Protein(s)

NM_015063.3 → NP_055878.1 sodium/calcium exchanger 2 precursor

See identical proteins and their annotated locations for NP_055878.1

Status: VALIDATED

Source sequence(s)

AB029010, AC073548, DC401065

Consensus CDS

CCDS33065.1

UniProtKB/Swiss-Prot

Q9UPR5

Related

ENSP00000236877.5, ENST00000236877.11

Conserved Domains (1) summary

TIGR00845
Location:1 → 921

caca; sodium/calcium exchanger 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p13 Primary Assembly

Range

47428017..47471893 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259172.2 → XP_005259229.1 sodium/calcium exchanger 2 isoform X1

Conserved Domains (5) summary

smart00237
Location:522 → 612

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:1 → 915

caca; sodium/calcium exchanger 1

pfam01699
Location:741 → 906

Na_Ca_ex; Sodium/calcium exchanger protein

pfam03160
Location:393 → 482

Calx-beta; Calx-beta domain

pfam16494
Location:248 → 373

Na_Ca_ex_C; C-terminal extension of sodium/calcium exchanger domain
XM_017027159.1 → XP_016882648.1 sodium/calcium exchanger 2 isoform X2