Human Gene SLC8A3 (ENST00000533541.1) from GENCODE V38
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F2Z391)
RefSeq Summary (NM_182936): 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].
Gencode Transcript: ENST00000533541.1
Gencode Gene: ENSG00000100678.19
Transcript (Including UTRs)
   Position: hg38 chr14:70,046,075-70,080,180 Size: 34,106 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr14:70,048,612-70,052,091 Size: 3,480 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:70,046,075-70,080,180)mRNA (may differ from genome)Protein (210 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F2Z391_HUMAN
DESCRIPTION: SubName: Full=Sodium/calcium exchanger 3;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC8A3
Diseases sorted by gene-association score: corneal dystrophy, schnyder type (11), spastic paraplegia 24, autosomal recessive (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.16 RPKM in Muscle - Skeletal
Total median expression: 29.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.90239-0.230 Picture PostScript Text
3' UTR -755.602537-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004836 - Na_Ca_Ex

ModBase Predicted Comparative 3D Structure on F2Z391
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005432 calcium:sodium antiporter activity

Biological Process:
GO:0006816 calcium ion transport
GO:0035725 sodium ion transmembrane transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF510501 - Homo sapiens Na+/Ca2+ exchanger isoform 3 splice variant 2 (SLC8A3) mRNA, complete cds; alternatively spliced.
AF510502 - Homo sapiens Na+/Ca2+ exchanger isoform 3 splice variant 3 (SLC8A3) mRNA, complete cds; alternatively spliced.
AF510503 - Homo sapiens Na+/Ca2+ exchanger isoform 3 splice variant 4 (SLC8A3) mRNA, complete cds; alternatively spliced.
AJ508602 - Homo sapiens partial mRNA for Na+/Ca2+ exchanger isoform 4 (NACAIS4 gene).
AJ304852 - Homo sapiens mRNA for sodium/calcium exchanger SCL8A3, alternative splice form A (SCL8A3 gene).
AJ304853 - Homo sapiens mRNA for sodium/calcium exchanger, SCL8A3, alternative splice form B (SCL8A3 gene).
BC160014 - Synthetic construct Homo sapiens clone IMAGE:100063950, MGC:193129 solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3) mRNA, encodes complete protein.
BC150183 - Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3, mRNA (cDNA clone IMAGE:40148239), partial cds.
BC150193 - Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3, mRNA (cDNA clone IMAGE:40148714), partial cds.
BC036783 - Homo sapiens solute carrier family 8 (sodium-calcium exchanger), member 3, mRNA (cDNA clone IMAGE:5732743).
AK122728 - Homo sapiens cDNA FLJ16234 fis, clone FEBRA2028503, highly similar to SODIUM/CALCIUM EXCHANGER 3 PRECURSOR.
BC142969 - Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3, mRNA (cDNA clone IMAGE:8860390), complete cds.
AK096553 - Homo sapiens cDNA FLJ39234 fis, clone OCBBF2007762, highly similar to SODIUM/CALCIUM EXCHANGER 3 PRECURSOR.
AJ745101 - Homo sapiens mRNA for Na+/Ca2+ exchanger 3, variant NCX3-tN.1 (SLC8A3 gene).
AJ745102 - Homo sapiens mRNA for Na+/Ca2+ exchanger 3, variant NCX3-tN.2 (SLC8A3 gene).
KJ897569 - Synthetic construct Homo sapiens clone ccsbBroadEn_06963 SLC8A3 gene, encodes complete protein.
BC023215 - Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3, mRNA (cDNA clone IMAGE:4932133), with apparent retained intron.
BC114217 - Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3, mRNA (cDNA clone IMAGE:5194668), with apparent retained intron.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: BC023215, F2Z391, F2Z391_HUMAN, uc001xma.1, uc001xma.2, uc001xma.3, uc001xma.4
UCSC ID: ENST00000533541.1
RefSeq Accession: NM_182936
Protein: F2Z391

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.