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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
  • Na+/Ca++ Exchanger 2 3
  • NCX1 3 4
  • Sodium/Calcium Exchanger 1 3
  • Na+/Ca2+ Exchanger 3
  • 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 Long Qt Syndrome 9 and Corneal Dystrophy, Schnyder Type. Among its related pathways are Calcium signaling pathway and Collagen chain trimerization. GO annotations related to this gene include calmodulin binding and cytoskeletal protein binding. An important paralog of this gene is SLC8A3.

UniProtKB/Swiss-Prot 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.

Additional gene information for SLC8A1 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC8A1 Gene

Genomics for SLC8A1 Gene

Regulatory Elements for SLC8A1 Gene

Enhancers for SLC8A1 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
GH02H040400 1.1 Ensembl ENCODE dbSUPER 9.9 +208.8 208777 4 JUND POLR2A JUN NR2F1 FOS MAFK SLC8A1 GC02P040407 GC02P040371
GH02H040430 1 Ensembl ENCODE dbSUPER 10.7 +179.4 179362 2 JUND POLR2A RCOR1 SPI1 SLC8A1 GC02P040417 GC02P040490
GH02H040449 1.2 FANTOM5 ENCODE dbSUPER 8.8 +159.9 159851 3 MXI1 PKNOX1 L3MBTL2 ARNT ZSCAN4 EBF1 GABPA POLR2A MAFK ZBTB26 SLC8A1 GC02P040417 GC02P040490
GH02H040393 1 Ensembl ENCODE dbSUPER 9.4 +216.2 216220 2 STAT1 GATA3 MAFK SLC8A1 TMEM178A GC02P040407 GC02P040371
GH02H040487 1.4 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +122.3 122302 2 CTCF TFAP4 SAP130 HLF MAX ZNF384 RAD21 SMC3 SLC8A1 GC02P040490 LOC101929667
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC8A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC8A1 Gene

Chromosome:
2
Start:
40,097,270 bp from pter
End:
40,611,053 bp from pter
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=Translation N-terminally extended.; 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 isoforms=4, 2, 5, 344 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 membrane proteins
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC8A1 Gene

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

GENATLAS Biochemistry:
solute carrier family 8 (sodium-calcium exchange),member 1,cardiac,expressed in sarcolemma
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by micromolar levels of Ca(2+).
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.

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 TAS --
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 25589784
GO:0005516 calmodulin binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC8A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
endoplasmic reticulum 2
cytosol 2
extracellular 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:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane TAS 19095005
GO:0005887 integral component of plasma membrane IDA 1374913
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

Gene Ontology (GO) - Biological Process for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0006810 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

(60) 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 Nutra Full agonist, Agonist, Target 0
Icosapent Approved Nutra Target, inhibitor Endogenous polyunsaturated fatty acid; stimulates ERK1/2 phosphorylation 0
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
Chlorthalidone Approved Pharma 65

(24) Additional Compounds for SLC8A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(5) 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
YM 244769 Na+/Ca2+ exchange inhibitor (reverse mode); neuroprotective 837424-39-2

(7) ApexBio Compounds for SLC8A1 Gene

Compound Action Cas Number
Benzamil 161804-20-2
CGP 37157 Antagonist of mitochondrial Na+-Ca2+ exchanger 75450-34-9
Chlorthalidone 77-36-1
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

Unigene Clusters for SLC8A1 Gene

Solute carrier family 8 (sodium/calcium exchanger), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC8A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for SLC8A1 Gene

GeneLoc Exon Structure for
SLC8A1
ECgene alternative splicing isoforms for
SLC8A1

Expression for SLC8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC8A1 Gene



Protein tissue co-expression partners for SLC8A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC8A1 Gene:

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(4.8)
  • Heart(4.7)
  • Muscle(3.3)
  • Kidney(2.8)
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 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia SLC8A1 33 34
  • 93.31 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC8A1 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SLC8A1 33 34
  • 91.96 (n)
mouse
(Mus musculus)
Mammalia Slc8a1 33 16 34
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Slc8a1 33
  • 89.42 (n)
chicken
(Gallus gallus)
Aves NCX1 34
  • 89 (a)
OneToOne
SLC8A1 33
  • 80.43 (n)
lizard
(Anolis carolinensis)
Reptilia SLC8A1 34
  • 94 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc8a1 33
  • 78.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23650 33
zebrafish
(Danio rerio)
Actinopterygii slc8a1a 34
  • 76 (a)
OneToMany
slc8a1b 33 34
  • 71.44 (n)
slc8a4a 34
  • 69 (a)
OneToMany
slc8a4b 34
  • 69 (a)
OneToMany
Dr.19052 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11654 33
fruit fly
(Drosophila melanogaster)
Insecta Calx 35 34
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea ncx-1 33 34
  • 54.05 (n)
ncx-2 35 34
  • 45 (a)
Y113G7A.4 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 72 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
Species where no ortholog for SLC8A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC8A1 Gene

Paralogs for SLC8A1 Gene

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

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

Variants for SLC8A1 Gene

Sequence variations from dbSNP and Humsavar for SLC8A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000002747 -- 40,246,013(+) ATTAT(A/G)CCATA intron-variant
rs1000003101 -- 40,161,829(+) TTTCC(A/G)CTAAT intron-variant
rs1000029411 -- 40,277,099(+) AGGAA(A/G)AGAAA intron-variant
rs1000038691 -- 40,365,893(+) ACTAG(C/G)GAGGC intron-variant
rs1000039932 -- 40,499,797(+) ATAAC(A/C/T)GAGTC intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
long qt syndrome 9
  • lqt9
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
aromatase deficiency
  • congenital estrogen deficiency
heart disease
  • congestive heart failure
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC8A1

Genetic Association Database (GAD)
SLC8A1
Human Genome Epidemiology (HuGE) Navigator
SLC8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC8A1
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 22 45 60
  2. 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 22 45 60
  3. NCX1 Na/Ca exchanger splice variants in pancreatic islet cells. (PMID: 11241183) Van Eylen F … Herchuelz A (The Journal of endocrinology 2001) 3 4 22 60
  4. 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 22 60
  5. The topology of the cardiac Na⁺/Ca²⁺ exchanger, NCX1. (PMID: 23376057) Ren X … Philipson KD (Journal of molecular and cellular cardiology 2013) 3 4 60

Products for SLC8A1 Gene

Sources for SLC8A1 Gene

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