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Aliases for SLC8A2 Gene

Aliases for SLC8A2 Gene

  • Solute Carrier Family 8 Member A2 2 3 5
  • Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 2 2 3
  • Solute Carrier Family 8 Member 2 3 4
  • Na(+)/Ca(2+)-Exchange Protein 2 3 4
  • Sodium/Calcium Exchanger 2 3 4
  • NCX2 3 4
  • Na+/Ca2+-Exchanging Protein Nac2 3
  • KIAA1087 4

External Ids for SLC8A2 Gene

Previous GeneCards Identifiers for SLC8A2 Gene

  • GC19M048578
  • GC19M048322
  • GC19M052607
  • GC19M052623
  • GC19M047931
  • GC19M044359

Summaries for SLC8A2 Gene

GeneCards Summary for SLC8A2 Gene

SLC8A2 (Solute Carrier Family 8 Member A2) is a Protein Coding gene. Among its related pathways are CREB Pathway and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calcium:sodium antiporter activity. An important paralog of this gene is SLC8A3.

UniProtKB/Swiss-Prot for SLC8A2 Gene

  • Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion.

Tocris Summary for SLC8A2 Gene

  • The Na+/Ca2+ exchanger (NCX) is a low affinity, high capacitance calcium antiporter membrane protein that functions to regulate intracellular calcium concentrations. It is located on the plasma, mitochondrial and endoplasmic reticular membranes of excitable cells.

Additional gene information for SLC8A2 Gene

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC8A2 Gene

Genomics for SLC8A2 Gene

GeneHancer (GH) Regulatory Elements for SLC8A2 Gene

Promoters and enhancers for SLC8A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J047471 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.2 249 1.6 ZNF148 GTF2F1 ZSCAN21 CDC5L ZBTB7A SP7 KLF14 EGR1 SMARCA4 CREB1 SLC8A2 ZC3H4 GRWD1 BICRA EHD2 SNORD23 NOP53 KCNJ14 MEIS3
GH19J047225 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.7 +242.7 242702 8.3 HDGF SP1 ZNF652 ZFX CC2D1A ELF3 ZKSCAN8 MNT CBFA2T2 ZNF148 BBC3 BICRA ENSG00000268810 NOP53-AS1 CCDC9 NOP53 PPP5D1 INAFM1 LIG1 SNORD23
GH19J047741 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -272.1 -272054 5.4 SP1 ZFX CTCF ELF3 MNT SIX5 ZNF148 NKRF POLR2A MLLT1 NOP53 ZC3H4 BICRA SELENOW GRWD1 RASIP1 CA11 ENSG00000268093 ZSWIM9 NOP53-AS1
GH19J046600 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.6 +869.8 869797 4.9 ZFX SP1 CC2D1A ELF3 MNT ZKSCAN8 SIX5 ZNF148 NKRF POLR2A PPP5D1 CALM3 GC19M046598 ENSG00000268423 ZC3H4 CCDC61 ENSG00000268810 ENSG00000269148 FBXO46 CCDC9
GH19J048328 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -859.6 -859636 5.8 HDGF SP1 CC2D1A SIX5 CBFA2T2 ZNF148 NKRF MLLT1 GTF2F1 ZNF687 BICRA SNRNP70 GRWD1 TMEM143 NOP53-AS1 CYTH2 CA11 NOP53 KDELR1 RPL18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC8A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC8A2 gene promoter:
  • GATA-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for SLC8A2 Gene

Genomic Locations for SLC8A2 Gene
chr19:47,428,017-47,472,050
(GRCh38/hg38)
Size:
44,034 bases
Orientation:
Minus strand
chr19:47,931,274-47,975,425
(GRCh37/hg19)
Size:
44,152 bases
Orientation:
Minus strand

Genomic View for SLC8A2 Gene

Genes around SLC8A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC8A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC8A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC8A2 Gene

Proteins for SLC8A2 Gene

  • Protein details for SLC8A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPR5-NAC2_HUMAN
    Recommended name:
    Sodium/calcium exchanger 2
    Protein Accession:
    Q9UPR5
    Secondary Accessions:
    • B4DYQ9

    Protein attributes for SLC8A2 Gene

    Size:
    921 amino acids
    Molecular mass:
    100368 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA83039.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC8A2 Gene

Post-translational modifications for SLC8A2 Gene

  • Glycosylation at posLast=817817 and isoforms=34
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC8A2 Gene

No data available for DME Specific Peptides for SLC8A2 Gene

Domains & Families for SLC8A2 Gene

Gene Families for SLC8A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC8A2 Gene

GenScript: Design optimal peptide antigens:
  • Na(+)/Ca(2+)-exchange protein 2 (NAC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPR5

UniProtKB/Swiss-Prot:

NAC2_HUMAN :
  • The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange.
  • Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily.
Domain:
  • The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange.
Family:
  • Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC8 subfamily.
genes like me logo Genes that share domains with SLC8A2: view

Function for SLC8A2 Gene

Molecular function for SLC8A2 Gene

UniProtKB/Swiss-Prot Function:
Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion.
UniProtKB/Swiss-Prot EnzymeRegulation:
Calcium transport is down-regulated by Na(+) and stimulated by Ca(2+).
GENATLAS Biochemistry:
solute carrier family 8 (sodium-calcium exchange),member 2,brain

Phenotypes From GWAS Catalog for SLC8A2 Gene

Gene Ontology (GO) - Molecular Function for SLC8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005432 calcium:sodium antiporter activity ISS --
GO:0005516 calmodulin binding IEA --
GO:0015297 antiporter activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SLC8A2: view
genes like me logo Genes that share phenotypes with SLC8A2: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SLC8A2 - Now 50% OFF >
  • * SLC8A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC8A2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC8A2 Gene

Localization for SLC8A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC8A2 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Perikaryon. Cell projection, dendrite. Cell projection, dendritic spine.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC8A2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC8A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC8A2 Gene

Pathways & Interactions for SLC8A2 Gene

genes like me logo Genes that share pathways with SLC8A2: view

Gene Ontology (GO) - Biological Process for SLC8A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA,ISS --
GO:0007154 cell communication IEA --
genes like me logo Genes that share ontologies with SLC8A2: view

No data available for SIGNOR curated interactions for SLC8A2 Gene

Drugs & Compounds for SLC8A2 Gene

(9) Drugs for SLC8A2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Chlorthalidone Approved Pharma 72
Benzamil Pharma Channel blocker NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 0
CGP 37157 Pharma Antagonist of mitochondrial Na+-Ca2+ exchanger, Antagonist of mitochondrial Na+/Ca2+ exchange 0
KB-R7943 mesylate Pharma Inhibitor of the reverse mode of the Na+/Ca2+ exchanger, Na+/Ca2+ exchange inhibitor (reverse mode) 0

(1) Additional Compounds for SLC8A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for SLC8A2 Gene

Compound Action Cas Number
Benzamil NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 161804-20-2
CGP 37157 Antagonist of mitochondrial Na+/Ca2+ exchange 75450-34-9
KB-R7943 mesylate Na+/Ca2+ exchange inhibitor (reverse mode) 182004-65-5
SN-6 Selective Na+/Ca2+ exchange inhibitor (reverse mode) 415697-08-4

(7) ApexBio Compounds for SLC8A2 Gene

Compound Action Cas Number
Benzamil 161804-20-2
CGP 37157 Antagonist of mitochondrial Na+-Ca2+ exchanger 75450-34-9
Chlorthalidone 77-36-1
KB-R7943 mesylate Inhibitor of the reverse mode of the Na+/Ca2+ exchanger 182004-65-5
SN-6 415697-08-4
YM 244769 837424-39-2
Zoniporide dihydrochloride 241799-10-0
genes like me logo Genes that share compounds with SLC8A2: view

Transcripts for SLC8A2 Gene

mRNA/cDNA for SLC8A2 Gene

Unigene Clusters for SLC8A2 Gene

Solute carrier family 8 (sodium/calcium exchanger), member 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SLC8A2 - Now 50% OFF >
  • * SLC8A2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC8A2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SLC8A2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for SLC8A2 Gene

GeneLoc Exon Structure for
SLC8A2
ECgene alternative splicing isoforms for
SLC8A2

Expression for SLC8A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC8A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC8A2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.4), Brain - Cerebellum (x9.9), Brain - Cortex (x5.1), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for SLC8A2 Gene

This gene is overexpressed in Frontal cortex (43.3) and Brain (23.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC8A2 Gene



Protein tissue co-expression partners for SLC8A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC8A2 Gene:

SLC8A2

SOURCE GeneReport for Unigene cluster for SLC8A2 Gene:

Hs.172884

Evidence on tissue expression from TISSUES for SLC8A2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with SLC8A2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC8A2 Gene

Orthologs for SLC8A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC8A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC8A2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC8A2 35 34
  • 93.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC8A2 35 34
  • 93.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc8a2 34
  • 89.03 (n)
mouse
(Mus musculus)
Mammalia Slc8a2 17 35 34
  • 88.2 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC8A2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SLC8A2 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc8a2 34
  • 68.81 (n)
zebrafish
(Danio rerio)
Actinopterygii slc8a2b 34 35
  • 72.78 (n)
slc8a2a 35
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Calx 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea Y113G7A.4 36
  • 47 (a)
ncx-1 35
  • 46 (a)
ManyToMany
ncx-2 35
  • 44 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
Species where no ortholog for SLC8A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC8A2 Gene

ENSEMBL:
Gene Tree for SLC8A2 (if available)
TreeFam:
Gene Tree for SLC8A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC8A2: view image

Paralogs for SLC8A2 Gene

Paralogs for SLC8A2 Gene

(5) SIMAP similar genes for SLC8A2 Gene using alignment to 5 proteins:

  • NAC2_HUMAN
  • F5GYS4_HUMAN
  • F5H6L7_HUMAN
  • M0R1Z4_HUMAN
  • M0R211_HUMAN
genes like me logo Genes that share paralogs with SLC8A2: view

Variants for SLC8A2 Gene

Sequence variations from dbSNP and Humsavar for SLC8A2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000057688 -- 47,443,039(-) C/T intron_variant
rs1000154369 -- 47,442,234(-) A/G intron_variant
rs1000202611 -- 47,472,182(-) CCCCC/CCCC upstream_transcript_variant
rs1000284176 -- 47,437,241(-) A/G intron_variant
rs1000334946 -- 47,448,505(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC8A2 Gene

Variant ID Type Subtype PubMed ID
esv1000004 CNV deletion 20482838
esv1055822 CNV deletion 17803354
esv2718663 CNV deletion 23290073
esv2758765 CNV loss 17122850
nsv1057003 CNV loss 25217958
nsv1134802 CNV deletion 24896259
nsv428366 CNV loss 18775914
nsv517901 CNV loss 19592680
nsv579888 CNV gain 21841781

Variation tolerance for SLC8A2 Gene

Residual Variation Intolerance Score: 4.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC8A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC8A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC8A2 Gene

Disorders for SLC8A2 Gene

Additional Disease Information for SLC8A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC8A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC8A2 Gene

Publications for SLC8A2 Gene

  1. Cloning of the NCX2 isoform of the plasma membrane Na(+)-Ca2+ exchanger. (PMID: 8021246) Li Z … Philipson KD (The Journal of biological chemistry 1994) 2 3 23 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  3. Inhibitory interaction of the plasma membrane Na+/Ca2+ exchangers with the 14-3-3 proteins. (PMID: 16679322) Pulina MV … Carafoli E (The Journal of biological chemistry 2006) 3 23 58
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SLC8A2 Gene

Sources for SLC8A2 Gene

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