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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC8A3 Gene

protein-coding   GIFtS: 59
GCID: GC14M070510

solute carrier family 8 (sodium/calcium exchanger), member...
 Explore 13 diseases affiliated with
SLC8A3 via
MalaCards
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 Human Malady Compendium 
Biological research products
for SLC8A3    

Aliases
for SLC8A3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 31 2     Sodium/Calcium Exchanger 32
NCX31 2 3     Sodium/Calcium Exchanger SLC8A32
Na(+)/Ca(2+)-Exchange Protein 32 3     Solute Carrier Family 8 (Sodium-Calcium Exchanger), Member 32
Na+/Ca2+ Exchanger 32     

External Ids:    HGNC: 110701   Entrez Gene: 65472   Ensembl: ENSG000001006787   OMIM: 6079915   UniProtKB: P571033   

Export aliases for SLC8A3 gene to outside databases

Previous GC identifers: GC14M068017 GC14M064307 GC14M068500 GC14M069580 GC14M050679


Summaries
for SLC8A3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC8A3:
This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Three mammalian isoforms
in family 8 have been identified. 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, Jul 2008)

UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103
Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during
relaxation so as to prevent overloading of intracellular stores (By similarity)

summary for SLC8A3:
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. Using the electrochemical gradient of Na+, one Ca2+ ion
is transported in exchange for three Na+ ions. The Na+/Ca2+ exchanger compliments the high affinity, low
capacitance Ca2+-ATPase and together, they are involved in a variety of cellular functions including control
of neurosecretion, relaxation of cardiac muscle, maintenance of intracellular Ca2+ stores in the endoplasmic
and sarcoplasmic reticuli and excitation-relaxation coupling. Under normal physiological conditions,
Na+/Ca2+ exchangers export Ca+ from the cell. However, under cellular stress, such as excitotoxicity, they
can switch to 'reverse mode', which has a protective effect.




Genomic Views
for SLC8A3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC8A3 gene promoter:
         CP2   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC8A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC8A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC8A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.1   Ensembl cytogenetic band:  14q24.2   HGNC cytogenetic band: 14q24.1

SLC8A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC8A3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M070510:  view genomic region     (about GC identifiers)

Start:
 70,510,934 bp from pter      End:
 70,655,787 bp from pter
Size:
 144,854 bases      Orientation:
 minus strand

Proteins
for SLC8A3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103 (See protein sequence)
Recommended Name: Sodium/calcium exchanger 3 precursor  
Size: 927 amino acids; 103010 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q5K3P6 Q5K3P7 Q8IUE9 Q8IUF0 Q8NFI7 Q96QG1 Q96QG2
Alternative splicing: 7 isoforms:  P57103-1   P57103-2   P57103-3   P57103-4   P57103-5   P57103-6   P57103-7   (Expressed in fetal brain)

Explore the universe of human proteins at neXtProt for SLC8A3: NX_P57103

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57103

    • SLC8A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_001123889.1  NP_150287.1  NP_489479.1  NP_891977.1  NP_891981.1  NP_892114.1  

    ENSEMBL proteins: 
     ENSP00000349392   ENSP00000436332   ENSP00000370669   ENSP00000216568   ENSP00000377863  
     ENSP00000436688   ENSP00000433531   ENSP00000437103   ENSP00000350560  
    Reactome Protein details: P57103
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC8A3

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005874microtubule IEA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--


    SLC8A3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC8A3

    Protein Domains /
    Families
    for SLC8A3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC8A3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003644 Calx_beta
     IPR004837 NaCa_Exmemb
     IPR004836 Na_Ca_Ex

    Graphical View of Domain Structure for InterPro Entry P57103

    ProtoNet protein and cluster: P57103

    3 Blocks protein families:
    IPB003644 Na-Ca exchanger/integrin-beta4
    IPB004836 Na+/Ca2+ exchanger signature
    IPB004837 Sodium/calcium exchanger membrane region


    UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103
    Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily
    Similarity: Contains 2 Calx-beta domains


    Function
    for SLC8A3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103
    Function: Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during
    relaxation so as to prevent overloading of intracellular stores (By similarity)
    Enzyme regulation: By intracellular calcium ions (By similarity)

         Genatlas biochemistry entry for SLC8A3:
    solute carrier family 8 (sodium-calcium exchange),member 3,expressed in brain and skeletal muscle

    miRNA
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    hsa-miR-505 hsa-miR-3934 hsa-miR-425 hsa-miR-4282 hsa-miR-3918 hsa-miR-3692 hsa-miR-21 hsa-miR-590-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC8A3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005432calcium:sodium antiporter activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0015368calcium:cation antiporter activity ----


    SLC8A3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc8a3tm1Sso for SLC8A3
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc8a3):
     behavior/neurological  homeostasis/metabolism  muscle  nervous system 

    SLC8A3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC8A3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet calcium homeostasis
    		Platelet calcium homeostasis1.00
    		Reduction of cytosolic Ca++ levels0.53
    2SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    3Sodium-coupled transporters and pumps
    		Sodium-coupled transporters and pumps1.00
    		Sodium/Calcium exchangers0.30
    4Antiarrhythmic Pathway, Pharmacodynamics
    		Antiarrhythmic Pathway, Pharmacodynamics1.00
    5Visual Cycle in Retinal Rods
    		Visual Cycle in Retinal Rods1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SLC8A3
        Sodium-coupled transporters and pumps

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC8A3
        Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    Alpha-Adrenergic Signaling

    1 BioSystems Pathway for SLC8A3 
        Calcium Regulation in the Cardiac Cell

    5/8        Reactome Pathways for SLC8A3 (see all 8)
        Hemostasis
    Sodium/Calcium exchangers
    Transmembrane transport of small molecules
    SLC-mediated transmembrane transport
    Transport of inorganic cations/anions and amino acids/oligopeptides

    1 PharmGKB Pathway for SLC8A3
        Antiarrhythmic Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for SLC8A3):
        Calcium signaling pathway
    Protein digestion and absorption


    SLC8A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC8A3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for SLC8A3 (P571033 ENSP000003706694) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP3CBP162983, ENSP000003783064I2D: score=1 STRING: ENSP00000378306
    YWHAEP622583, ENSP000002643354I2D: score=1 STRING: ENSP00000264335
    YWHABP319463, ENSP000003001614I2D: score=1 STRING: ENSP00000300161
    YWHAQP273483, ENSP000002380814I2D: score=1 STRING: ENSP00000238081
    CAPN1P073843I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ----
    GO:0007154cell communication IEA--
    GO:0007596blood coagulation TAS--
    GO:0021537telencephalon development IEA--


    SLC8A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC8A3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC8A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SLC8A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KB-R7943 mesylateNa+/Ca2+ exchange inhibitor (reverse mode)[182004-65-5]
    SN-6Selective Na+/Ca2+ exchange inhibitor (reverse mode)[415697-08-4]
    CGP 37157Antagonist of mitochondrial Na+/Ca2+ exchange[75450-34-9]

    2 HMDB Compounds for SLC8A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--
    3 Novoseek chemical compound relationships for SLC8A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 52.4 29 17446490 (3), 15247490 (3), 9486131 (2), 12558991 (2) (see all 12)
    atp 23.7 1 9486131 (1)
    sodium 0 1 15472108 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC8A3 / NAC3 

    Transcripts
    for SLC8A3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC8A3 gene (7 alternative transcripts): 
    NM_001130417.1  NM_033262.3  NM_058240.2  NM_182932.1  NM_182936.1  NM_183002.1  NM_182933.1  

    Unigene Cluster for SLC8A3:

    Solute carrier family 8 (sodium/calcium exchanger), member 3
    Hs.337696  [show with all ESTs]
    Unigene Representative Sequence: NM_183002
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356921(uc001xlz.3) ENST00000494208(uc010ara.3) ENST00000381269(uc001xlw.3 uc001xly.3)
    ENST00000216568(uc001xlv.3 uc001xlu.3) ENST00000394330 ENST00000534137
    ENST00000528359 ENST00000533541(uc001xma.2) ENST00000533899 ENST00000357887(uc001xlx.3)


    miRNA
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    hsa-miR-505 hsa-miR-3934 hsa-miR-425 hsa-miR-4282 hsa-miR-3918 hsa-miR-3692 hsa-miR-21 hsa-miR-590-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF086064.1 AF510501.1 AF510502.1 AJ304852.1 AJ304853.1 AJ508602.1 AJ745101.1 AJ745102.1 
    AK096553.1 AK122728.1 BC036783.1 BC142969.1 BC150183.1 BC150193.1 BX248763.1 

    6 DOTS entries:

    DT.75166096  DT.95162184  DT.95162185  DT.100805460  DT.95162183  DT.40202628 

    24/57 AceView cDNA sequences (see all 57):

    BQ189572 AK122728 AF510502 BM930281 NM_182936 NM_183002 Z25288 BX248763 
    AJ304853 AJ430443 BC036783 T07666 BC023215 AJ304852 AF510503 NM_182933 
    AF510501 NM_033262 NM_058240 NM_182932 BX098112 AL712986 BM698518 BQ187487 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC8A3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC8A3

    Expression
    for SLC8A3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC8A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATAAGCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC8A3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMandibular FossaBone
    BoneThoracic RibBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

    See SLC8A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC8A3

    SOURCE GeneReport for Unigene cluster: Hs.337696

    UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103
    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

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    Orthologs
    for SLC8A3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC8A3 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC8A31 solute carrier family 8 (sodium/calcium exchanger), more 82.57(n)
    92.05(a)    		   395759  XM_001231413.2  XP_001231414.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 93(a)
    93(a)
    (see all 3)    		 1 ↔ many
    1 ↔ many
    (see all 3)    		 GL343318.1(1068963-1069724)
    GL343318.1(902601-910863)
    zebrafish
    (Danio rerio)    		 Actinopterygii slc8a31 solute carrier family 8 (sodium-calcium exchanger), more 72.57(n)
    79.54(a)    		   560561  NM_001123256.1  NP_001116728.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Calx3 calcium:sodium antiporter 48(a)   93B3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea Y113G7A.43
    ncx-21    		 Protein NCX-21 46(a)3
    55.67(n)1
    50.98(a)1    		   V(20097897-20112759)3
    1789181  NM_072014.31  NP_504415.21 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MHX1 magnesium/proton exchanger 47.78(n)
    38.92(a)    		   819373  NM_130328.2  NP_566105.1 
    rice
    (Oryza sativa)    		 Liliopsida Os11g06600001 hypothetical protein 48.48(n)
    38.83(a)    		   4351058  NM_001074934.1  NP_001068402.1 


    ENSEMBL Gene Tree for SLC8A3 (if available)
    TreeFam Gene Tree for SLC8A3 (if available) 

    Paralogs
    for SLC8A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC8A3 gene
    SLC24A52  SLC24A42  SLC8A22  SLC24A22  SLC24A32  SLC24A62  SLC8A12  SLC24A12  
    4 SIMAP similar genes for SLC8A3 using alignment to 5 protein entries:     NAC3_HUMAN (see all proteins):
    NACAIS4    SLC8A2    DKFZp761D171    SLC8A1

    SLC8A3 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC8A3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2739 NCBI SNPs in SLC8A3 are shown (see all 2739)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs760868861,2
    		C,unknown70633450(+) GGGGAC/TGATGA 8 I V mis10--------
    rs1924211701,2
    		--70510475(+) ACCATA/GCCCAG 6 -- ds50010--------
    rs1160851891,2
    		F,--70510516(+) CTATGT/ACTTGC 6 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1393712401,2
    		--70510522(+) CTTGCC/TCTTCT 6 -- ds50010--------
    rs1834193581,2
    		--70510550(+) CATTCA/GATATA 6 -- ds50010--------
    rs1496323431,2
    		--70510578(+) TTTTTC/TGTTGA 6 -- ds50010--------
    rs793682091,2
    		F,--70510592(+) AATGAT/AGAGTA 6 -- ds50012Minor allele frequency- A:0.02WA NA 238
    rs1156553091,2
    		F,--70510632(+) AATAGG/ATGCAG 6 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1867238261,2
    		--70510639(+) GCAGGA/GCACTG 6 -- ds50010--------
    rs1461633931,2
    		--70510668(+) GTCACA/GGCCAA 6 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC8A3 (70510934 - 70655787 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SLC8A3
         2 CNVs: 87261 76669
         1 Indel: 87262

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    Disorders / Diseases
    for SLC8A3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC8A3 for disorders           About GeneDecksing

    OMIM gene information: 607991    OMIM disorders: --

    13 diseases for SLC8A3:    About MalaCards
    axonal neuropathy    brain ischemia    cystic fibrosis    anoxia
    ischemia    fibrosis    alzheimer's disease    neuropathy
    cerebritis    hypoxia    neuroblastoma    neuronitis
    retinitis

    2 Novoseek disease relationships for SLC8A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cell damage 32.9 6 16973719 (3)
    ischemia 7.61 2 17343909 (1), 15472108 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC8A3 (1 document)

    Export disorders for SLC8A3 gene to outside databases

    Publications
    for SLC8A3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC8A3 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with SLC8A3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of two novel truncated isoforms of human Na+/Ca2+ exchanger 3, expressed in fetal brain. (PubMed id 15777725)1, 2, 9 Lindgren R.M.... Nister M. (2005)
    2. Control of the Na+/Ca2+ exchanger 3 promoter by cyclic adenosine monophosphate and Ca2+ in differentiating neurons. (PubMed id 12558991)1, 2, 9 Gabellini N.... Carafoli E. (2003)
    3. The human SLC8A3 gene and the tissue-specific Na+/Ca2+ exchanger 3 isoforms. (PubMed id 12406570)1, 2, 9 Gabellini N.... Carafoli E. (2002)
    4. Cloning of a third mammalian Na+-Ca2+ exchanger, NCX3. (PubMed id 8798769)1, 3 Nicoll D.A....Philipson K.D. (1996)
    5. Transcriptional regulation by cAMP and Ca2+ links the Na+/Ca2+ exchanger 3 to memory and sensory pathways. (PubMed id 15247490)1, 9 Gabellini N. (2004)
    6. Inhibitory interaction of the plasma membrane Na+/Ca2+ exchangers with the 14-3-3 proteins. (PubMed id 16679322)1, 9 Pulina M.V....Carafoli E. (2006)
    7. The gene promoter of human Na+/Ca2+ exchanger isoform 3 (SLC8A3) is controlled by cAMP and calcium. (PubMed id 12502570)1, 9 Gabellini N....Carafoli E. (2002)
    8. Silencing or knocking out the Na(+)/Ca(2+) exchanger-3 (NCX3) impairs oligodendrocyte differentiation. (PubMed id 21959935)1 Boscia F....Annunziato L. (2012)
    9. Molecular and functional characterization of the human platelet Na(+) /Ca(2+) exchangers. (PubMed id 21790537)1 Roberts D.E....Bose R. (2012)
    10. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PubMed id 21602797)1 Wright F.A....Cutting G.R. (2011)

    External Searches for SLC8A3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SLC8A3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6547 HGNC: 11070 AceView: SLC8A3 Ensembl:ENSG00000100678 euGenes: HUgn6547
    ECgene: SLC8A3 Kegg: 6547 H-InvDB: SLC8A3

    Other Databases showing SLC8A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC8A3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC8A3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC8A3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC8A3 gene:
    Search GeneIP for patents involving SLC8A3

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