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 and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an el... See more...

Aliases for SLC8A3 Gene

Aliases for SLC8A3 Gene

  • Solute Carrier Family 8 Member A3 2 3 5
  • NCX3 2 3 4
  • Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 3 2 3
  • Na(+)/Ca(2+)-Exchange Protein 3 3 4
  • Sodium/Calcium Exchanger 3 3 4
  • Solute Carrier Family 8 Member 3 4
  • Sodium/Calcium Exchanger SLC8A3 3
  • SLC8A3 5

External Ids for SLC8A3 Gene

Previous GeneCards Identifiers for SLC8A3 Gene

  • GC14M068017
  • GC14M064307
  • GC14M068500
  • GC14M069580
  • GC14M070510
  • GC14M050679

Summaries for SLC8A3 Gene

Entrez Gene Summary for SLC8A3 Gene

  • 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 and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]

GeneCards Summary for SLC8A3 Gene

SLC8A3 (Solute Carrier Family 8 Member A3) is a Protein Coding gene. Diseases associated with SLC8A3 include Spastic Paraplegia 24, Autosomal Recessive and Epilepsy With Generalized Tonic-Clonic Seizures. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calcium:cation antiporter activity. An important paralog of this gene is SLC8A1.

UniProtKB/Swiss-Prot Summary for SLC8A3 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, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In neurons, 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 (By similarity). Required for normal oligodendrocyte differentiation and for normal myelination (PubMed:21959935). Mediates Ca(2+) efflux from mitochondria and contributes to mitochondrial Ca(2+) ion homeostasis (By similarity).

Tocris Summary for SLC8A3 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.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC8A3 Gene

Genomics for SLC8A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC8A3 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
GH14J070186 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 605.2 +1.3 1288 4.6 ZNF629 ZIC2 POLR2A PATZ1 EZH2 ZNF600 ZNF341 PKNOX1 ZBTB20 SP2 ENSG00000258422 SLC8A3 LOC646548 COX16 SMOC1
GH14J070080 Promoter 0.5 EPDnew 600.1 +109.4 109411 0.1 RFX1 BMI1 SLC8A3 HSALNG0102201 lnc-SLC10A1-2 SMOC1
GH14J070254 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 12 -65.5 -65453 1.6 ZBTB33 PHF21A RBFOX2 PATZ1 REST ZNF600 KMT2B KLF9 ZFX ZBTB20 ENSG00000259033 LOC101928046 piR-33735-026 piR-35564-045 piR-58297-163 COX16 SRSF5 SLC8A3 RNU2-51P ADAM20
GH14J070358 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.6 -169.6 -169574 2.8 ZNF221 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 SIX5 IKZF1 COX16 RF00004-043 RNU2-51P SRSF5 MED6 SUSD6 RPL7AP6 ADAM20P1 PTTG4P ERH
GH14J070223 Promoter 0.9 Ensembl 12 -34.1 -34074 1 CTCF PRDM10 LEF1 IKZF1 POLR2A ZNF341 SP2 HMBOX1 MTA3 ZSCAN29 LOC107984686 lnc-SLC8A3-2 SLC8A3 ENSG00000258422 LOC646548 COX16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC8A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC8A3

Top Transcription factor binding sites by QIAGEN in the SLC8A3 gene promoter:
  • CP2
  • NRSF form 1
  • NRSF form 2

Genomic Locations for SLC8A3 Gene

Genomic Locations for SLC8A3 Gene
chr14:70,044,215-70,189,626
(GRCh38/hg38)
Size:
145,412 bases
Orientation:
Minus strand
chr14:70,510,934-70,655,787
(GRCh37/hg19)
Size:
144,854 bases
Orientation:
Minus strand

Genomic View for SLC8A3 Gene

Genes around SLC8A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC8A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC8A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC8A3 Gene

Proteins for SLC8A3 Gene

  • Protein details for SLC8A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57103-NAC3_HUMAN
    Recommended name:
    Sodium/calcium exchanger 3
    Protein Accession:
    P57103
    Secondary Accessions:
    • Q5K3P6
    • Q5K3P7
    • Q8IUE9
    • Q8IUF0
    • Q8NFI7
    • Q96QG1
    • Q96QG2

    Protein attributes for SLC8A3 Gene

    Size:
    927 amino acids
    Molecular mass:
    103010 Da
    Quaternary structure:
    • Interacts with AKAP1.
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 5]: Expressed in fetal brain.
    • [Isoform 6]: Expressed in fetal brain.

    Alternative splice isoforms for SLC8A3 Gene

neXtProt entry for SLC8A3 Gene

Post-translational modifications for SLC8A3 Gene

  • Glycosylation at Asn45 and Asn823
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC8A3 Gene

Domains & Families for SLC8A3 Gene

Gene Families for SLC8A3 Gene

Protein Domains for SLC8A3 Gene

InterPro:
Blocks:
  • Sodium/calcium exchanger membrane region
  • Na-Ca exchanger/integrin-beta4
  • Na+/Ca2+ exchanger signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC8A3 Gene

GenScript: Design optimal peptide antigens:
  • SLC8A3 protein (A7E240_HUMAN)
  • SLC8A3 protein (A7E249_HUMAN)
  • Na(+)/Ca(2+)-exchange protein 3 (NAC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57103

UniProtKB/Swiss-Prot:

NAC3_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 SLC8A3: view

Function for SLC8A3 Gene

Molecular function for SLC8A3 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, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In neurons, 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 (By similarity). Required for normal oligodendrocyte differentiation and for normal myelination (PubMed:21959935). Mediates Ca(2+) efflux from mitochondria and contributes to mitochondrial Ca(2+) ion homeostasis (By similarity).
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 3,expressed in brain and skeletal muscle

Phenotypes From GWAS Catalog for SLC8A3 Gene

Gene Ontology (GO) - Molecular Function for SLC8A3 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:0015368 calcium:cation antiporter activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SLC8A3: view
genes like me logo Genes that share phenotypes with SLC8A3: view

Animal Models for SLC8A3 Gene

MGI Knock Outs for SLC8A3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC8A3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC8A3 Gene

Localization for SLC8A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC8A3 Gene

Cell membrane. Multi-pass membrane protein. Perikaryon. Cell projection, dendrite. Cell projection, dendritic spine. Cell membrane, sarcolemma. Cytoplasm, sarcoplasm. Cell junction. Mitochondrion outer membrane. Multi-pass membrane protein. Cytoplasm, perinuclear region. Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Detected at neuromuscular junctions. {ECO:0000250 UniProtKB:S4R2P9}.

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 SLC8A3 gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
endoplasmic reticulum 4
cytoskeleton 3
cytosol 2
extracellular 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC8A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane ISS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with SLC8A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC8A3 Gene

Pathways & Interactions for SLC8A3 Gene

genes like me logo Genes that share pathways with SLC8A3: view

Pathways by source for SLC8A3 Gene

1 BioSystems pathway for SLC8A3 Gene
1 PharmGKB pathway for SLC8A3 Gene
3 Qiagen pathways for SLC8A3 Gene
  • Alpha-Adrenergic Signaling
  • Intracellular Calcium Signaling
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for SLC8A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport ISS --
genes like me logo Genes that share ontologies with SLC8A3: view

No data available for SIGNOR curated interactions for SLC8A3 Gene

Drugs & Compounds for SLC8A3 Gene

(8) Drugs for SLC8A3 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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
SN-6 Pharma Selective Na+/Ca2+ exchange inhibitor (reverse mode) 0
Calcium Nutra 6556

(1) Additional Compounds for SLC8A3 Gene - From: Novoseek and HMDB

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

(4) Tocris Compounds for SLC8A3 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

(6) ApexBio Compounds for SLC8A3 Gene

Compound Action Cas Number
Benzamil 161804-20-2
CGP 37157 Antagonist of mitochondrial Na+-Ca2+ exchanger 75450-34-9
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 SLC8A3: view

Drug Products

Transcripts for SLC8A3 Gene

mRNA/cDNA for SLC8A3 Gene

7 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC8A3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC8A3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5:
SP6:

Relevant External Links for SLC8A3 Gene

GeneLoc Exon Structure for
SLC8A3

Expression for SLC8A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC8A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC8A3 Gene

This gene is overexpressed in Muscle - Skeletal (x12.9).

Protein differential expression in normal tissues from HIPED for SLC8A3 Gene

This gene is overexpressed in Frontal cortex (38.4), Retina (17.3), and Heart (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC8A3 Gene



Protein tissue co-expression partners for SLC8A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC8A3

SOURCE GeneReport for Unigene cluster for SLC8A3 Gene:

Hs.337696

mRNA Expression by UniProt/SwissProt for SLC8A3 Gene:

P57103-NAC3_HUMAN
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.

Evidence on tissue expression from TISSUES for SLC8A3 Gene

  • Nervous system(4.7)
  • Muscle(2.8)
genes like me logo Genes that share expression patterns with SLC8A3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC8A3 Gene

Orthologs for SLC8A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC8A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC8A3 30 31
  • 99.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC8A3 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC8A3 30 31
  • 93.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc8a3 30
  • 91.41 (n)
Dog
(Canis familiaris)
Mammalia SLC8A3 30 31
  • 90.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc8a3 30 17 31
  • 90.01 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC8A3 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NCX3 31
  • 92 (a)
OneToOne
SLC8A3 30
  • 82.57 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC8A3 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc8a3 30
  • 76.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc8a3 30 31
  • 72.57 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002859 30
  • 57.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Calx 30 31 32
  • 56.88 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ncx-2 30 31
  • 56.15 (n)
ManyToMany
ncx-1 31
  • 48 (a)
ManyToMany
Y113G7A.4 32
  • 46 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
CSA.8047 31
  • 51 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2312 30
Species where no ortholog for SLC8A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SLC8A3 Gene

ENSEMBL:
Gene Tree for SLC8A3 (if available)
TreeFam:
Gene Tree for SLC8A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC8A3: view image

Paralogs for SLC8A3 Gene

Paralogs for SLC8A3 Gene

(4) SIMAP similar genes for SLC8A3 Gene using alignment to 5 proteins:

  • NAC3_HUMAN
  • A7E240_HUMAN
  • A7E249_HUMAN
  • F2Z391_HUMAN
  • L8E9C0_HUMAN
genes like me logo Genes that share paralogs with SLC8A3: view

Variants for SLC8A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC8A3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
708581 Benign: not provided 70,167,718(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
718671 Benign: not provided 70,168,267(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
719222 Benign: not provided 70,168,393(-) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
727243 Likely Benign: not provided 70,167,851(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
734933 Likely Benign: not provided 70,045,983(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC8A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC8A3 Gene

Variant ID Type Subtype PubMed ID
esv1009218 CNV insertion 20482838
esv2670724 CNV deletion 23128226
esv3634850 CNV loss 21293372
esv3634851 CNV loss 21293372
esv3634852 CNV loss 21293372
nsv1338 CNV insertion 18451855
nsv456336 CNV gain 19166990
nsv472023 CNV novel sequence insertion 20440878
nsv476500 CNV novel sequence insertion 20440878
nsv519644 CNV loss 19592680
nsv565007 CNV gain 21841781
nsv832824 CNV gain 17160897
nsv832826 CNV gain 17160897

Variation tolerance for SLC8A3 Gene

Residual Variation Intolerance Score: 7.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC8A3 Gene

Human Gene Mutation Database (HGMD)
SLC8A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC8A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC8A3 Gene

Disorders for SLC8A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC8A3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC8A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC8A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC8A3 Gene

Publications for SLC8A3 Gene

  1. Molecular cloning and characterization of two novel truncated isoforms of human Na+/Ca2+ exchanger 3, expressed in fetal brain. (PMID: 15777725) Lindgren RM … Nistér M (Gene 2005) 3 4 23
  2. Control of the Na+/Ca2+ exchanger 3 promoter by cyclic adenosine monophosphate and Ca2+ in differentiating neurons. (PMID: 12558991) Gabellini N … Carafoli E (Journal of neurochemistry 2003) 3 4 23
  3. The human SLC8A3 gene and the tissue-specific Na+/Ca2+ exchanger 3 isoforms. (PMID: 12406570) Gabellini N … Carafoli E (Gene 2002) 3 4 23
  4. Silencing or knocking out the Na(+)/Ca(2+) exchanger-3 (NCX3) impairs oligodendrocyte differentiation. (PMID: 21959935) Boscia F … Annunziato L (Cell death and differentiation 2012) 3 4
  5. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PMID: 21602797) Wright FA … Cutting GR (Nature genetics 2011) 3 41

Products for SLC8A3 Gene

Sources for SLC8A3 Gene