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Aliases for SLC24A3 Gene

Aliases for SLC24A3 Gene

  • Solute Carrier Family 24 Member 3 2 3 4 5
  • Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 3 2 3
  • Na(+)/K(+)/Ca(2+)-Exchange Protein 3 3 4
  • NCKX3 3 4
  • Sodium/Potassium/Calcium Exchanger 3 3
  • Sodium Calcium Exchanger 3

External Ids for SLC24A3 Gene

Previous GeneCards Identifiers for SLC24A3 Gene

  • GC20P019181
  • GC20P019188

Summaries for SLC24A3 Gene

Entrez Gene Summary for SLC24A3 Gene

  • Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC24A3 Gene

SLC24A3 (Solute Carrier Family 24 Member 3) is a Protein Coding gene. Diseases associated with SLC24A3 include Corneal Dystrophy, Posterior Polymorphous, 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Visual Cycle in Retinal Rods. GO annotations related to this gene include symporter activity and calcium, potassium:sodium antiporter activity. An important paralog of this gene is SLC24A4.

UniProtKB/Swiss-Prot for SLC24A3 Gene

  • Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC24A3 Gene

Genomics for SLC24A3 Gene

Regulatory Elements for SLC24A3 Gene

Enhancers for SLC24A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC24A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC24A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC24A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC24A3 Gene

Chromosome:
20
Start:
19,212,646 bp from pter
End:
19,722,937 bp from pter
Size:
510,292 bases
Orientation:
Plus strand

Genomic View for SLC24A3 Gene

Genes around SLC24A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC24A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC24A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC24A3 Gene

Proteins for SLC24A3 Gene

  • Protein details for SLC24A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC58-NCKX3_HUMAN
    Recommended name:
    Sodium/potassium/calcium exchanger 3
    Protein Accession:
    Q9HC58
    Secondary Accessions:
    • B1AKV7
    • Q9BQJ9
    • Q9BQL7
    • Q9BQY3
    • Q9H519

    Protein attributes for SLC24A3 Gene

    Size:
    644 amino acids
    Molecular mass:
    71992 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC24A3 Gene

Post-translational modifications for SLC24A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC24A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC24A3 Gene

Domains & Families for SLC24A3 Gene

Gene Families for SLC24A3 Gene

Protein Domains for SLC24A3 Gene

Suggested Antigen Peptide Sequences for SLC24A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HC58

UniProtKB/Swiss-Prot:

NCKX3_HUMAN :
  • Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.
Family:
  • Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily.
genes like me logo Genes that share domains with SLC24A3: view

Function for SLC24A3 Gene

Molecular function for SLC24A3 Gene

UniProtKB/Swiss-Prot Function:
Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).

Gene Ontology (GO) - Molecular Function for SLC24A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
GO:0005509 calcium ion binding IBA --
GO:0008273 calcium, potassium:sodium antiporter activity TAS --
GO:0015293 symporter activity IEA --
GO:0030955 potassium ion binding IBA --
genes like me logo Genes that share ontologies with SLC24A3: view
genes like me logo Genes that share phenotypes with SLC24A3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC24A3

CRISPR Products

miRNA for SLC24A3 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC24A3 Gene

Localization for SLC24A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC24A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC24A3 Gene COMPARTMENTS Subcellular localization image for SLC24A3 gene
Compartment Confidence
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC24A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with SLC24A3: view

Pathways & Interactions for SLC24A3 Gene

genes like me logo Genes that share pathways with SLC24A3: view

Interacting Proteins for SLC24A3 Gene

Selected Interacting proteins: Q9HC58-NCKX3_HUMAN for SLC24A3 Gene via IID

Symbol External ID(s) Details
CXCL5
PROSC

Gene Ontology (GO) - Biological Process for SLC24A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0035725 sodium ion transmembrane transport IEA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC24A3: view

No data available for SIGNOR curated interactions for SLC24A3 Gene

Drugs & Compounds for SLC24A3 Gene

(9) Drugs for SLC24A3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(8) Additional Compounds for SLC24A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC24A3: view

Transcripts for SLC24A3 Gene

mRNA/cDNA for SLC24A3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(68) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC24A3 Gene

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A3 Gene

No ASD Table

Relevant External Links for SLC24A3 Gene

GeneLoc Exon Structure for
SLC24A3
ECgene alternative splicing isoforms for
SLC24A3

Expression for SLC24A3 Gene

mRNA expression in normal human tissues for SLC24A3 Gene

mRNA differential expression in normal tissues according to GTEx for SLC24A3 Gene

This gene is overexpressed in Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for SLC24A3 Gene

This gene is overexpressed in Heart (52.9) and Peripheral blood mononuclear cells (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC24A3 Gene



Protein tissue co-expression partners for SLC24A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC24A3 Gene:

SLC24A3

SOURCE GeneReport for Unigene cluster for SLC24A3 Gene:

Hs.654790

mRNA Expression by UniProt/SwissProt for SLC24A3 Gene:

Q9HC58-NCKX3_HUMAN
Tissue specificity: Abundant in the brain. Expressed at low levels in the aorta, uterus and intestine.
genes like me logo Genes that share expression patterns with SLC24A3: view

Primer Products

Orthologs for SLC24A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC24A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC24A3 34
  • 88.8 (n)
  • 92.68 (a)
SLC24A3 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC24A3 34
  • 90.44 (n)
  • 96.29 (a)
SLC24A3 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc24a3 34
  • 89.47 (n)
  • 96.45 (a)
Slc24a3 16
Slc24a3 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC24A3 34
  • 98.71 (n)
  • 98.71 (a)
SLC24A3 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc24a3 34
  • 89.25 (n)
  • 95.33 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC24A3 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC24A3 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC24A3 34
  • 79.34 (n)
  • 88.79 (a)
SLC24A3 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC24A3 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc24a3 34
  • 68.72 (n)
  • 70.87 (a)
slc24a3 35
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1090 36
  • 35 (a)
CG12061 36
  • 37 (a)
CG2893 36
  • 46 (a)
CG2893 34
  • 52.8 (n)
  • 46 (a)
CG12061 35
  • 37 (a)
ManyToMany
CG2893 35
  • 38 (a)
ManyToMany
CG17167 35
  • 29 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010975 34
  • 53.09 (n)
  • 47.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1993 35
  • 32 (a)
OneToMany
Species where no ortholog for SLC24A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC24A3 Gene

ENSEMBL:
Gene Tree for SLC24A3 (if available)
TreeFam:
Gene Tree for SLC24A3 (if available)

Paralogs for SLC24A3 Gene

Paralogs for SLC24A3 Gene

(4) SIMAP similar genes for SLC24A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC24A3: view

Variants for SLC24A3 Gene

Sequence variations from dbSNP and Humsavar for SLC24A3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_028024 -
VAR_028025 -
rs3790267 - 19,585,049(+) CATCG(A/G)TCATA reference, missense
rs6136807 - 19,681,901(+) CAAAA(A/G)GTGCC reference, missense
rs8994 -- 19,722,691(+) AACCT(A/G)CTACA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC24A3 Gene

Variant ID Type Subtype PubMed ID
esv2652551 CNV insertion 19546169
esv2670085 CNV deletion 23128226
esv3303482 CNV mobile element insertion 20981092
esv3309667 CNV mobile element insertion 20981092
esv3423159 CNV insertion 20981092
esv3645455 CNV loss 21293372
esv3645457 CNV gain 21293372
nsv1056243 CNV gain 25217958
nsv1072527 CNV deletion 25765185
nsv1109356 CNV deletion 24896259
nsv1119487 CNV insertion 24896259
nsv3315 CNV deletion 18451855
nsv3316 CNV insertion 18451855
nsv3317 CNV insertion 18451855
nsv474514 CNV novel sequence insertion 20440878
nsv527125 CNV loss 19592680
nsv585671 CNV loss 21841781
nsv833937 CNV gain 17160897
nsv833938 CNV loss 17160897
nsv952996 CNV deletion 24416366

Variation tolerance for SLC24A3 Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.90; 94.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC24A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC24A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC24A3 Gene

Disorders for SLC24A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC24A3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior polymorphous, 1
  • corneal endothelial dystrophy 1, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC24A3

Genetic Association Database (GAD)
SLC24A3
Human Genome Epidemiology (HuGE) Navigator
SLC24A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC24A3
genes like me logo Genes that share disorders with SLC24A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC24A3 Gene

Publications for SLC24A3 Gene

  1. Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3. (PMID: 11294880) Kraev A. … Lytton J. (J. Biol. Chem. 2001) 3 4 22 65
  2. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M. … Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012) 3 46 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels. (PMID: 20031604) Cheng Y.C. … Pollin T.I. (Circ Cardiovasc Genet 2009) 3 46 65
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 65

Products for SLC24A3 Gene

Sources for SLC24A3 Gene

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