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SLC8A3 Gene

protein-coding   GIFtS: 61
GCID: GC14M070510

Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 31 2     Na+/Ca2+ Exchanger 32
Solute Carrier Family 8 Member 32 3     Sodium/Calcium Exchanger 32
NCX32 3     Sodium/Calcium Exchanger SLC8A32
Na(+)/Ca(2+)-Exchange Protein 32 3     Solute Carrier Family 8 (Sodium-Calcium Exchanger), Member 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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (sodium/calcium exchanger), member 3) is a protein-coding gene. GO annotations related to this gene include calcium:sodium antiporter activity and calmodulin binding. An important paralog of this gene is SLC8A1.

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 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. 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.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC8A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAC3_HUMAN, P57103 (See protein sequence)
Recommended Name: Sodium/calcium exchanger 3 precursor  
Size: 927 amino acids; 103010 Da
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

Explore proteomics data for SLC8A3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn45, Asn823
  • Modification sites at PhosphoSitePlus

  • See SLC8A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/calcium exchanger 3
    SLC8 family of sodium/calcium exchangers

    3 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with SLC8A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005432calcium:sodium antiporter activity IEA--
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with SLC8A3           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc8a3):
     behavior/neurological  homeostasis/metabolism  muscle  nervous system 

    Find genes that share phenotypes with SLC8A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc8a3tm1Sso for SLC8A3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC8A3
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NAC3_HUMAN, P57103: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (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 component of membrane IEA--

    Find genes that share ontologies with SLC8A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC8A3 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Sodium/Calcium exchangers0.00
    2Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Hemostasis
    Hemostasis0.43
    5Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43


    Find genes that share SuperPaths with SLC8A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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

    2 Reactome Pathways for SLC8A3
        Sodium/Calcium exchangers
    Reduction of cytosolic Ca++ levels

    1 PharmGKB Pathway for SLC8A3
        Antiarrhythmic Pathway, Pharmacodynamics

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC8A3
    Interactions:

        GeneGlobe Interaction Network for SLC8A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for SLC8A3 (P571033 ENSP000003706694) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ----
    GO:0006816calcium ion transport ----
    GO:0007154cell communication IEA--
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with SLC8A3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SLC8A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KB-R7943 mesylateNa+/Ca2+ exchange inhibitor (reverse mode)[182004-65-5]
    YM 244769Na+/Ca2+ exchange inhibitor (reverse mode); neuroprotective[837424-39-2]
    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 inferred 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)



    Find genes that share compounds with SLC8A3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC8A3 gene (7 alternative transcripts): 
    NM_001130417.2  NM_033262.4  NM_058240.3  NM_182932.2  NM_182936.2  NM_183002.2  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)

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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 57):

    T07666 AF510503 BQ189572 NM_183002 AK122728 Z25288 AJ304852 AJ304853 
    NM_058240 BC036783 NM_033262 NM_182932 NM_182936 AF510501 NM_182933 BC023215 
    BX248763 AF510502 BM930281 AJ430443 BQ187487 BI522813 BM698518 N50099 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC8A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATAAGCTA
    SLC8A3 Expression
    About this image


    SLC8A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Rib
     
     Skeletal Muscle (Muscoskeletal System)
    SLC8A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC8A3 Protein Expression

    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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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC8A3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc8a31 , 5 solute carrier family 8 (sodium/calcium exchanger), more1, 5 90.01(n)1
    95.13(a)1
      12 (37.44 cM)5
    1108931  NM_080440.31  NP_536688.21 
     811979155 
    chicken
    (Gallus gallus)
    Aves SLC8A31 solute carrier family 8 (sodium/calcium exchanger), more 82.57(n)
    92.05(a)
      395759  XM_001231413.3  XP_001231414.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC8A36
    Uncharacterized protein
    91(a)
    1 ↔ 1
    GL343318.1(902601-1124592)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc8a31 solute carrier family 8 (sodium/calcium exchanger), more 76.76(n)
    88.67(a)
      100487508  XM_004917262.1  XP_004917319.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc8a31 solute carrier family 8 (sodium-calcium exchanger), more 72.57(n)
    79.43(a)
      560561  NM_001123256.1  NP_001116728.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Calx1 , 3 calcium:sodium antiporter3
    Na/Ca-exchange protein1
    48(a)3
    56.88(n)1
    51.37(a)1
      93B33
    424811  NM_001260286.11  NP_001247215.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y113G7A.43
    ncx-21
    ncx-21 46(a)3
    56.15(n)1
    51.1(a)1
      V(20097897-20112759)3
    1789181  NM_072014.41  NP_504415.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC8A3 gene
    SLC8A12  SLC8A22  GPR982  
    4 SIMAP similar genes for SLC8A3 using alignment to 5 protein entries:     NAC3_HUMAN (see all proteins):
    NACAIS4    SLC8A2    DKFZp761D171    SLC8A1

    Find genes that share paralogs with SLC8A3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC8A3 (see all 3184)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364634
    A breast cancer sample4--see VAR_0364632 E Q mis40--------
    rs760868861,2
    Cuntested170633450(+) GGGGAC/TGATGA 8 I V mis10--------
    rs58094771,2
    C--50822638(+) tgtgt-/GT/GTGT/G
    TTT
    /TGTT/TT
    ccgcg
    4 -- int10--------
    rs751231741,2
    C--70510436(+) CCTCAA/G/TCCTCC 6 -- ds50011NA 2
    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
    C--70510578(+) TTTTTC/TGTTGA 6 -- ds50010--------
    rs793682091,2
    C,F--70510592(+) AATGAT/AGAGTA 6 -- ds50012Minor allele frequency- A:0.02WA NA 238

    HapMap Linkage Disequilibrium report for SLC8A3 (70510934 - 70655787 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SLC8A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670724CNV Deletion23128226
    nsv1338CNV Insertion18451855
    esv1009218CNV Insertion20482838
    nsv519644CNV Loss19592680
    nsv902075CNV Gain21882294
    nsv832824CNV Gain17160897
    nsv832826CNV Gain17160897
    nsv456336CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SLC8A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC8A3

    (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.)
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    OMIM gene information: 607991    OMIM disorders: --


    Find genes that share disorders with SLC8A3           About GenesLikeMe

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): SLC8A3
    Human Genome Epidemiology (HuGE) Navigator: SLC8A3 (1 document)

    Export disorders for SLC8A3 gene to outside databases

    (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)
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    PubMed articles for SLC8A3 gene, integrated from 10 sources (see all 59):
    (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. (Gene 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. (J. Neurochem. 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. (Gene 2002)
    4. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PubMed id 21602797)1, 4 Wright F.A....Cutting G.R. (Nat. Genet. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Cloning of a third mammalian Na+-Ca2+ exchanger, NCX3. (PubMed id 8798769)1, 3 Nicoll D.A....Philipson K.D. (J. Biol. Chem. 1996)
    7. Transcriptional regulation by cAMP and Ca2+ links the Na+/Ca2+ exchanger 3 to memory and sensory pathways. (PubMed id 15247490)1, 9 Gabellini N. (Mol. Neurobiol. 2004)
    8. 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. (J. Biol. Chem. 2006)
    9. 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. (Ann. N. Y. Acad. Sci. 2002)
    10. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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