In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within t... See more...

Aliases for SLC8A1 Gene

Aliases for SLC8A1 Gene

  • Solute Carrier Family 8 Member A1 2 3 5
  • Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 1 2 3
  • Solute Carrier Family 8 Member 1 3 4
  • Na(+)/Ca(2+)-Exchange Protein 1 3 4
  • Sodium/Calcium Exchanger 1 3 4
  • Na+/Ca++ Exchanger 2 3
  • NCX1 3 4
  • Na+/Ca2+ Exchanger 3
  • SLC8A1 5
  • CNC 4

External Ids for SLC8A1 Gene

Previous HGNC Symbols for SLC8A1 Gene

  • NCX1

Previous GeneCards Identifiers for SLC8A1 Gene

  • GC02M040318
  • GC02M040500
  • GC02M040316
  • GC02M040253
  • GC02M040339

Summaries for SLC8A1 Gene

Entrez Gene Summary for SLC8A1 Gene

  • In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]

GeneCards Summary for SLC8A1 Gene

SLC8A1 (Solute Carrier Family 8 Member A1) is a Protein Coding gene. Diseases associated with SLC8A1 include Heart Disease and Arrhythmogenic Right Ventricular Cardiomyopathy. 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 cytoskeletal protein binding. An important paralog of this gene is SLC8A3.

UniProtKB/Swiss-Prot Summary for SLC8A1 Gene

  • Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. 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. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions.

Tocris Summary for SLC8A1 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 SLC8A1 Gene

Genomics for SLC8A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC8A1 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
GH02J040449 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 608.8 +159.9 159852 3.6 ZSCAN4 EZH2 ARNT RAD21 ZBTB26 ZBTB17 PKNOX1 CTCF ZNF335 GABPA SLC8A1 HSALNG0014388 lnc-TMEM178A-5 THUMPD2
GH02J040511 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.2 +98.3 98278 2.9 CEBPB CHD2 RCOR1 EP300 RFX5 SPI1 STAT3 JUN POLR2A MAFF ENSG00000287255 LOC101929667 lnc-TMEM178A-6 SLC8A1 piR-32214-370 THUMPD2
GH02J040431 Promoter 0.3 EPDnew 600.1 +180.8 180770 0.1 SLC8A1 HSALNG0014388 lnc-TMEM178A-5 THUMPD2
GH02J040400 Enhancer 0.9 Ensembl ENCODE dbSUPER 9.9 +207.9 207853 6 TOE1 CEBPB JUND JUN USF1 FOS FOSL2 NR2F1 MAFK YY1 SLC8A1 lnc-TMEM178A-5 HSALNG0014388 THUMPD2
GH02J040433 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 6 +175.5 175538 4 SP1 SMARCC1 JUND ATF3 CEBPB FOS CHD2 JUN RCOR1 PKNOX1 SLC8A1 HSALNG0014388 lnc-TMEM178A-5 THUMPD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC8A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC8A1

Top Transcription factor binding sites by QIAGEN in the SLC8A1 gene promoter:
  • CREB
  • deltaCREB
  • E47
  • FOXD3
  • Hand1
  • Ik-2
  • ITF-2
  • Msx-1
  • MyoD
  • Sox9

Genomic Locations for SLC8A1 Gene

Genomic Locations for SLC8A1 Gene
chr2:40,094,523-40,611,053
(GRCh38/hg38)
Size:
516,531 bases
Orientation:
Minus strand
chr2:40,324,410-40,838,193
(GRCh37/hg19)
Size:
513,784 bases
Orientation:
Minus strand

Genomic View for SLC8A1 Gene

Genes around SLC8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC8A1 Gene

Proteins for SLC8A1 Gene

  • Protein details for SLC8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32418-NAC1_HUMAN
    Recommended name:
    Sodium/calcium exchanger 1
    Protein Accession:
    P32418
    Secondary Accessions:
    • A8K6N1
    • D6W595
    • O95849
    • Q4QQG6
    • Q587I6
    • Q59GN4
    • Q9UBL8
    • Q9UD55
    • Q9UDN1
    • Q9UDN2
    • Q9UKX6

    Protein attributes for SLC8A1 Gene

    Size:
    973 amino acids
    Molecular mass:
    108547 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH98308.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC8A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC8A1 Gene

Post-translational modifications for SLC8A1 Gene

  • Glycosylation at Asn44 and Asn160
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC8A1 Gene

Domains & Families for SLC8A1 Gene

Gene Families for SLC8A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC8A1 Gene

InterPro:
Blocks:
  • Sodium/calcium exchanger membrane region
  • Na-Ca exchanger/integrin-beta4
  • Na+/Ca2+ exchanger signature
  • Na+/Ca2+ exchanger isoform 1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC8A1 Gene

GenScript: Design optimal peptide antigens:
  • Na(+)/Ca(2+)-exchange protein 1 (NAC1_HUMAN)
  • SLC8A1 protein (Q4QQG6_HUMAN)
  • SLC8A1 protein (Q4QQH3_HUMAN)
  • Ncx1 protein (Q6LAJ8_HUMAN)
  • Ncx1 protein (Q6LAJ9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32418

UniProtKB/Swiss-Prot:

NAC1_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 SLC8A1: view

Function for SLC8A1 Gene

Molecular function for SLC8A1 Gene

UniProtKB/Swiss-Prot Function:
Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. 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. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by micromolar levels of Ca(2+).
GENATLAS Biochemistry:
solute carrier family 8 (sodium-calcium exchange),member 1,cardiac,expressed in sarcolemma

Phenotypes From GWAS Catalog for SLC8A1 Gene

Gene Ontology (GO) - Molecular Function for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005432 calcium:sodium antiporter activity IDA,IMP 25589784
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 16292983
GO:0005516 calmodulin binding IDA 26421717
GO:0008092 cytoskeletal protein binding IDA 16292983
genes like me logo Genes that share ontologies with SLC8A1: view
genes like me logo Genes that share phenotypes with SLC8A1: view

Animal Models for SLC8A1 Gene

MGI Knock Outs for SLC8A1:

Animal Model Products

CRISPR Products

miRNA for SLC8A1 Gene

miRTarBase miRNAs that target SLC8A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC8A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC8A1 Gene

Localization for SLC8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC8A1 Gene

Cell membrane. Multi-pass membrane protein.

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 SLC8A1 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytoskeleton 3
mitochondrion 3
extracellular 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane TAS 19095005
genes like me logo Genes that share ontologies with SLC8A1: view

Pathways & Interactions for SLC8A1 Gene

genes like me logo Genes that share pathways with SLC8A1: view

Pathways by source for SLC8A1 Gene

1 GeneGo (Thomson Reuters) pathway for SLC8A1 Gene
  • Signal transduction Calcium signaling
3 Qiagen pathways for SLC8A1 Gene
  • Alpha-Adrenergic Signaling
  • Intracellular Calcium Signaling
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002026 regulation of the force of heart contraction ISS --
GO:0002027 regulation of heart rate ISS --
GO:0002028 regulation of sodium ion transport IEA --
GO:0006811 ion transport TAS --
genes like me logo Genes that share ontologies with SLC8A1: view

No data available for SIGNOR curated interactions for SLC8A1 Gene

Drugs & Compounds for SLC8A1 Gene

(64) Drugs for SLC8A1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-linolenic acid Approved, Investigational Nutra Target 0
Icosapent Approved Nutra Target, inhibitor Endogenous polyunsaturated fatty acid; stimulates ERK1/2 phosphorylation 0
Calcium citrate Approved, Investigational Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
Calcium phosphate dihydrate Approved Pharma Transporter 0

(23) Additional Compounds for SLC8A1 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 SLC8A1 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 SLC8A1 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 SLC8A1: view

Drug Products

Transcripts for SLC8A1 Gene

mRNA/cDNA for SLC8A1 Gene

18 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
12 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 SLC8A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC8A1 Gene

No ASD Table

Relevant External Links for SLC8A1 Gene

GeneLoc Exon Structure for
SLC8A1

Expression for SLC8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC8A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC8A1 Gene

This gene is overexpressed in Heart - Left Ventricle (x12.0) and Heart - Atrial Appendage (x7.3).

Protein differential expression in normal tissues from HIPED for SLC8A1 Gene

This gene is overexpressed in Fetal heart (34.8) and Frontal cortex (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC8A1 Gene



Protein tissue co-expression partners for SLC8A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC8A1

SOURCE GeneReport for Unigene cluster for SLC8A1 Gene:

Hs.31961

mRNA Expression by UniProt/SwissProt for SLC8A1 Gene:

P32418-NAC1_HUMAN
Tissue specificity: Detected primarily in heart and at lower levels in brain (PubMed:1374913). Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung (PubMed:1476165).

Evidence on tissue expression from TISSUES for SLC8A1 Gene

  • Nervous system(4.9)
  • Heart(4.8)
  • Muscle(3.5)
  • Kidney(3)
  • Intestine(2.5)
  • Stomach(2.2)
  • Spleen(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with SLC8A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC8A1 Gene

Orthologs for SLC8A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC8A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC8A1 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC8A1 30 31
  • 93.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC8A1 31
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SLC8A1 30 31
  • 91.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc8a1 30 17 31
  • 89.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc8a1 30
  • 89.42 (n)
Chicken
(Gallus gallus)
Aves NCX1 31
  • 89 (a)
OneToOne
SLC8A1 30
  • 80.43 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC8A1 31
  • 94 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc8a1 30
  • 78.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23650 30
Zebrafish
(Danio rerio)
Actinopterygii slc8a1a 31
  • 76 (a)
OneToMany
slc8a1b 30 31
  • 71.44 (n)
OneToMany
slc8a4b 31
  • 69 (a)
OneToMany
slc8a4a 31
  • 69 (a)
OneToMany
Dr.19052 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11654 30
Fruit Fly
(Drosophila melanogaster)
Insecta Calx 31 32
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ncx-1 30 31
  • 54.05 (n)
ManyToMany
ncx-2 31 32
  • 45 (a)
ManyToMany
Y113G7A.4 32
  • 45 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
Species where no ortholog for SLC8A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 SLC8A1 Gene

ENSEMBL:
Gene Tree for SLC8A1 (if available)
TreeFam:
Gene Tree for SLC8A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC8A1: view image

Paralogs for SLC8A1 Gene

Paralogs for SLC8A1 Gene

(6) SIMAP similar genes for SLC8A1 Gene using alignment to 6 proteins:

  • NAC1_HUMAN
  • E7EV41_HUMAN
  • E9PB98_HUMAN
  • E9PCL8_HUMAN
  • F5H5B3_HUMAN
  • Q4QQH3_HUMAN
genes like me logo Genes that share paralogs with SLC8A1: view

Variants for SLC8A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC8A1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
726605 Likely Benign: not provided 40,160,778(-) G/A SYNONYMOUS_VARIANT
731689 Benign: not provided 40,428,718(-) G/A SYNONYMOUS_VARIANT
734794 Benign: not provided 40,115,390(-) G/T SYNONYMOUS_VARIANT
734795 Likely Benign: not provided 40,164,983(-) G/A SYNONYMOUS_VARIANT
741256 Benign: not provided 40,115,550(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC8A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC8A1 Gene

Variant ID Type Subtype PubMed ID
dgv215n21 CNV loss 19592680
dgv6795n54 CNV loss 21841781
dgv688e214 CNV gain 21293372
esv1125657 CNV deletion 17803354
esv1427276 CNV deletion 17803354
esv2234750 CNV deletion 18987734
esv2536757 CNV deletion 19546169
esv25665 CNV loss 19812545
esv2672782 CNV deletion 23128226
esv2719954 CNV deletion 23290073
esv2719955 CNV deletion 23290073
esv2719956 CNV deletion 23290073
esv2719957 CNV deletion 23290073
esv2719958 CNV deletion 23290073
esv2719959 CNV deletion 23290073
esv2719960 CNV deletion 23290073
esv2719961 CNV deletion 23290073
esv2719963 CNV deletion 23290073
esv2759044 CNV loss 17122850
esv2760574 CNV loss 21179565
esv2763455 CNV loss 21179565
esv3012077 CNV deletion 24192839
esv34071 CNV loss 18971310
esv3555356 CNV deletion 23714750
esv3555367 CNV deletion 23714750
esv3575236 CNV gain 25503493
esv3583750 CNV loss 25503493
esv3583751 CNV loss 25503493
esv3590452 CNV loss 21293372
esv3590453 CNV loss 21293372
esv3590457 CNV loss 21293372
esv3590458 CNV loss 21293372
esv3590460 CNV loss 21293372
esv3590461 CNV loss 21293372
esv4917 CNV loss 18987735
esv991008 CNV deletion 20482838
esv995388 CNV deletion 20482838
nsv1001866 CNV loss 25217958
nsv1005758 CNV loss 25217958
nsv1007027 CNV gain 25217958
nsv1008190 CNV loss 25217958
nsv1116374 CNV deletion 24896259
nsv1123317 CNV deletion 24896259
nsv1134860 CNV deletion 24896259
nsv2698 CNV insertion 18451855
nsv2700 CNV deletion 18451855
nsv478274 CNV novel sequence insertion 20440878
nsv516330 CNV loss 19592680
nsv524586 CNV loss 19592680
nsv581502 CNV gain 21841781
nsv833892 CNV loss 17160897
nsv955091 CNV deletion 24416366
nsv9658 CNV loss 18304495

Variation tolerance for SLC8A1 Gene

Residual Variation Intolerance Score: 6.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC8A1 Gene

Human Gene Mutation Database (HGMD)
SLC8A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC8A1 Gene

Disorders for SLC8A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC8A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
heart disease
  • congenital heart disease
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
penile cancer
  • ca penis
episodic kinesigenic dyskinesia 2
  • ekd2
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC8A1

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 SLC8A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC8A1 Gene

Publications for SLC8A1 Gene

  1. Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. (PMID: 20109173) Kepp K … Laan M (BMC medical genetics 2010) 3 23 41
  2. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PMID: 15824464) Matayoshi T … Kawano Y (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 23 41
  3. Association of genetic polymorphisms of sodium-calcium exchanger 1 gene, NCX1, with hypertension in a Japanese general population. (PMID: 15785003) Kokubo Y … Miyata T (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 23 41
  4. NCX1 Na/Ca exchanger splice variants in pancreatic islet cells. (PMID: 11241183) Van Eylen F … Herchuelz A (The Journal of endocrinology 2001) 3 4 23
  5. Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA. (PMID: 1374913) Komuro I … Izumo S (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23

Products for SLC8A1 Gene

Sources for SLC8A1 Gene