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Aliases for SLC8B1 Gene

Aliases for SLC8B1 Gene

  • Solute Carrier Family 8 Member B1 2 3 4 5
  • Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 6 2 3
  • Solute Carrier Family 24 (Sodium/Lithium/Calcium Exchanger), Member 6 2 3
  • Solute Carrier Family 8 (Sodium/Lithium/Calcium Exchanger), Member B1 2 3
  • Sodium/Calcium Exchanger Protein, Mitochondrial 3 4
  • Na(+)/K(+)/Ca(2+)-Exchange Protein 6 3 4
  • Solute Carrier Family 24 Member 6 3 4
  • SLC24A6 3 4
  • NCKX6 3 4
  • NCLX 3 4
  • Sodium/Potassium/Calcium Exchanger 6, Mitochondrial 3
  • Mitochondrial Sodium/Calcium Exchanger Protein 3
  • Sodium/Potassium/Calcium Exchanger 6 4

External Ids for SLC8B1 Gene

Previous HGNC Symbols for SLC8B1 Gene

  • SLC24A6

Previous GeneCards Identifiers for SLC8B1 Gene

  • GC12M113741

Summaries for SLC8B1 Gene

Entrez Gene Summary for SLC8B1 Gene

  • SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC8B1 Gene

SLC8B1 (Solute Carrier Family 8 Member B1) is a Protein Coding gene. Diseases associated with SLC8B1 include Swine Influenza. 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 protein homodimerization activity and calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential. An important paralog of this gene is SLC24A1.

UniProtKB/Swiss-Prot for SLC8B1 Gene

  • Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion (PubMed:20018762, PubMed:22829870, PubMed:23056385, PubMed:24898248, PubMed:28219928). Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leads to promote calcium-shuttling that modulates mitochondrial redox status, thereby regulating SOCE activity (PubMed:28219928). Involved in B-lymphocyte chemotaxis (By similarity). Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange (PubMed:15060069). In contrast to other members of the family its function is independent of K(+) (PubMed:15060069).

Additional gene information for SLC8B1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC8B1 Gene

Genomics for SLC8B1 Gene

Regulatory Elements for SLC8B1 Gene

Enhancers for SLC8B1 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
GH12H113270 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +87.5 87455 2 ELF3 ARID4B DMAP1 ZSCAN9 RAD21 EGR1 EGR2 CEBPB USF2 REST SDSL RASAL1 RITA1 SLC8B1 RBM19 OAS2 OAS3 OAS1 PLBD2 SDS
GH12H112407 1.4 Ensembl ENCODE 11.6 +950.8 950760 2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 MAPKAPK5 ADAM1A NAA25 RPL6 SLC8B1 DDX54 TMEM116 PTPN11 HECTD4
GH12H113417 1.5 FANTOM5 Ensembl ENCODE 9.7 -58.9 -58920 0 ELF3 FOXA2 ARID4B DNMT3B RAD21 RARA YY1 RCOR1 ATF7 THAP11 SDSL PLBD2 SLC8B1 SDS OAS2 OAS3 LOC105369989
GH12H113183 1.1 ENCODE 12.1 +173.8 173839 3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 FOS SP3 RBM19 HECTD4 RPL6 RITA1 SLC8B1 CFAP73 DDX54 DYNLL1P4 GC12M113186
GH12H113141 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +217.0 216987 2 ZNF121 POLR2A ZMYM3 MNT SDSL RASAL1 SLC8B1 CFAP73 OAS2 OAS3 OAS1 SDS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC8B1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC8B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057626 793 1401 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A ZNF2 YY1 GTF3C2 ZNF766

Genomic Location for SLC8B1 Gene

Chromosome:
12
Start:
113,298,759 bp from pter
End:
113,359,493 bp from pter
Size:
60,735 bases
Orientation:
Minus strand

Genomic View for SLC8B1 Gene

Genes around SLC8B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC8B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC8B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC8B1 Gene

Proteins for SLC8B1 Gene

  • Protein details for SLC8B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6J4K2-NCLX_HUMAN
    Recommended name:
    Mitochondrial sodium/calcium exchanger protein
    Protein Accession:
    Q6J4K2
    Secondary Accessions:
    • A6NP50
    • Q4KMS9
    • Q6J4K1
    • Q9H6I8

    Protein attributes for SLC8B1 Gene

    Size:
    584 amino acids
    Molecular mass:
    64231 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15271.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC8B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC8B1 Gene

Post-translational modifications for SLC8B1 Gene

No data available for DME Specific Peptides for SLC8B1 Gene

Domains & Families for SLC8B1 Gene

Gene Families for SLC8B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for SLC8B1 Gene

Suggested Antigen Peptide Sequences for SLC8B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6J4K2

UniProtKB/Swiss-Prot:

NCLX_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 SLC8B1: view

Function for SLC8B1 Gene

Molecular function for SLC8B1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the sodium/calcium exchanger inhibitor CGP-37157 (PubMed:24898248). Strongly inhibited by zinc (PubMed:15060069).
UniProtKB/Swiss-Prot Function:
Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion (PubMed:20018762, PubMed:22829870, PubMed:23056385, PubMed:24898248, PubMed:28219928). Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of calcium from mitochondrion, thereby affecting cytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC) channel regulation: sodium transport by SLC8B1 leads to promote calcium-shuttling that modulates mitochondrial redox status, thereby regulating SOCE activity (PubMed:28219928). Involved in B-lymphocyte chemotaxis (By similarity). Able to transport Ca(2+) in exchange of either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange (PubMed:15060069). In contrast to other members of the family its function is independent of K(+) (PubMed:15060069).

Gene Ontology (GO) - Molecular Function for SLC8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005432 calcium:sodium antiporter activity TAS --
GO:0015297 antiporter activity IEA --
GO:0015368 calcium:cation antiporter activity TAS --
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IPI 20018762
genes like me logo Genes that share ontologies with SLC8B1: view
genes like me logo Genes that share phenotypes with SLC8B1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC8B1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC8B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC8B1 Gene

Localization for SLC8B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC8B1 Gene

Mitochondrion inner 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 SLC8B1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC8B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC8B1 Gene

Pathways & Interactions for SLC8B1 Gene

genes like me logo Genes that share pathways with SLC8B1: view

Interacting Proteins for SLC8B1 Gene

Gene Ontology (GO) - Biological Process for SLC8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transport TAS,IMP --
genes like me logo Genes that share ontologies with SLC8B1: view

No data available for SIGNOR curated interactions for SLC8B1 Gene

Drugs & Compounds for SLC8B1 Gene

(3) Drugs for SLC8B1 Gene - From: HMDB and Novoseek

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

(1) Additional Compounds for SLC8B1 Gene - From: 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 SLC8B1: view

Transcripts for SLC8B1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC8B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC8B1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7: -
SP8: -
SP9: -
SP10:

ExUns: 18a · 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SLC8B1 Gene

GeneLoc Exon Structure for
SLC8B1
ECgene alternative splicing isoforms for
SLC8B1

Expression for SLC8B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC8B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC8B1 Gene

This gene is overexpressed in Adrenal Gland (x4.7).

Protein differential expression in normal tissues from HIPED for SLC8B1 Gene

This gene is overexpressed in Adrenal (38.3), Testis (20.4), and Placenta (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC8B1 Gene



Protein tissue co-expression partners for SLC8B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC8B1 Gene:

SLC8B1

mRNA Expression by UniProt/SwissProt for SLC8B1 Gene:

Q6J4K2-NCLX_HUMAN
Tissue specificity: Present in pancreatic beta-cells (at protein level).

Evidence on tissue expression from TISSUES for SLC8B1 Gene

  • Nervous system(3.8)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with SLC8B1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC8B1 Gene

Orthologs for SLC8B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC8B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC24A6 33 34
  • 98.92 (n)
cow
(Bos Taurus)
Mammalia SLC24A6 33
  • 86.42 (n)
SLC8B1 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC8B1 33 34
  • 85.62 (n)
mouse
(Mus musculus)
Mammalia Slc8b1 33 16 34
  • 81.13 (n)
rat
(Rattus norvegicus)
Mammalia Slc24a6 33
  • 80.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC8B1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC24A6 33
  • 69.92 (n)
SLC8B1 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC8B1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc8b1 33
  • 64.81 (n)
Str.16130 33
zebrafish
(Danio rerio)
Actinopterygii LOC560601 33
  • 62.12 (n)
FP103011.3 34
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007338 33
  • 45.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14744 33 34
  • 45.37 (n)
CG13223 34
  • 24 (a)
OneToMany
CG12376 34
  • 20 (a)
OneToMany
CG14743 34
  • 18 (a)
OneToMany
CG5348 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-7 33 34
  • 43.37 (n)
ncx-6 34
  • 29 (a)
OneToMany
ncx-9 34
  • 25 (a)
OneToMany
ncx-10 34
  • 24 (a)
OneToMany
ncx-8 34
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons CAX9 33
  • 44.47 (n)
rice
(Oryza sativa)
Liliopsida Os03g0180000 33
  • 43.53 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02826 33
  • 50.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToOne
Species where no ortholog for SLC8B1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC8B1 Gene

ENSEMBL:
Gene Tree for SLC8B1 (if available)
TreeFam:
Gene Tree for SLC8B1 (if available)

Paralogs for SLC8B1 Gene

Paralogs for SLC8B1 Gene

genes like me logo Genes that share paralogs with SLC8B1: view

Variants for SLC8B1 Gene

Sequence variations from dbSNP and Humsavar for SLC8B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000008973 -- 113,310,541(+) AGAGA(C/G)ACACA intron-variant
rs1000159972 -- 113,329,172(+) TCAGT(C/T)TTCAT intron-variant
rs1000170698 -- 113,298,814(+) GTTGA(A/T)TCCCT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000256390 -- 113,316,084(+) CCAGG(C/T)GTGGT intron-variant
rs1000286385 -- 113,322,336(+) TCTAG(A/G)GCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC8B1 Gene

Variant ID Type Subtype PubMed ID
esv2746379 CNV deletion 23290073
esv2746380 CNV deletion 23290073
esv3334504 CNV duplication 20981092
esv3350535 CNV duplication 20981092
esv3630792 CNV gain 21293372
esv3630796 CNV loss 21293372
esv3892265 CNV gain 25118596
nsv519540 CNV gain+loss 19592680
nsv560269 CNV loss 21841781

Variation tolerance for SLC8B1 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC8B1 Gene

Human Gene Mutation Database (HGMD)
SLC8B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC8B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC8B1 Gene

Disorders for SLC8B1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC8B1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
swine influenza
  • influenza due to influenza a virus subtype h1n1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC8B1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC8B1
genes like me logo Genes that share disorders with SLC8B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC8B1 Gene

Publications for SLC8B1 Gene

  1. Lithium-calcium exchange is mediated by a distinct potassium-independent sodium-calcium exchanger. (PMID: 15060069) Palty R … Sekler I (The Journal of biological chemistry 2004) 3 4 22 60
  2. 2++ (PMID: 28219928) Ben-Kasus Nissim T … Sekler I (The EMBO journal 2017) 3 4 60
  3. NCLX protein, but not LETM1, mediates mitochondrial Ca2+ extrusion, thereby limiting Ca2+-induced NAD(P)H production and modulating matrix redox state. (PMID: 24898248) De Marchi U … Demaurex N (The Journal of biological chemistry 2014) 3 4 60
  4. The SLC8 gene family of sodium-calcium exchangers (NCX) - structure, function, and regulation in health and disease. (PMID: 23506867) Khananshvili D (Molecular aspects of medicine 2013) 2 3 60
  5. The mitochondrial Na+/Ca2+ exchanger upregulates glucose dependent Ca2+ signalling linked to insulin secretion. (PMID: 23056385) Nita II … Sekler I (PloS one 2012) 3 4 60

Products for SLC8B1 Gene

Sources for SLC8B1 Gene

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