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Aliases for SLC24A4 Gene

Aliases for SLC24A4 Gene

  • Solute Carrier Family 24 Member 4 2 3 4
  • Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 4 2 3 5
  • Na(+)/K(+)/Ca(2+)-Exchange Protein 4 3 4
  • NCKX4 3 4
  • SLC24A2 3
  • AI2A5 3
  • SHEP6 3

External Ids for SLC24A4 Gene

Previous GeneCards Identifiers for SLC24A4 Gene

  • GC14P090403
  • GC14P086604
  • GC14P090778
  • GC14P091858
  • GC14P092788
  • GC14P072971

Summaries for SLC24A4 Gene

Entrez Gene Summary for SLC24A4 Gene

  • This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

GeneCards Summary for SLC24A4 Gene

SLC24A4 (Solute Carrier Family 24 Member 4) is a Protein Coding gene. Diseases associated with SLC24A4 include Amelogenesis Imperfecta, Type Iia5 and Amelogenesis Imperfecta Hypomaturation Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Olfactory Signaling Pathway. GO annotations related to this gene include symporter activity and calcium, potassium:sodium antiporter activity. An important paralog of this gene is SLC24A2.

UniProtKB/Swiss-Prot for SLC24A4 Gene

  • Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC24A4 Gene

Genomics for SLC24A4 Gene

Regulatory Elements for SLC24A4 Gene

Enhancers for SLC24A4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC24A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC24A4 Gene

Chromosome:
14
Start:
92,322,581 bp from pter
End:
92,501,483 bp from pter
Size:
178,903 bases
Orientation:
Plus strand

Genomic View for SLC24A4 Gene

Genes around SLC24A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC24A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC24A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC24A4 Gene

Proteins for SLC24A4 Gene

  • Protein details for SLC24A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFF2-NCKX4_HUMAN
    Recommended name:
    Sodium/potassium/calcium exchanger 4
    Protein Accession:
    Q8NFF2
    Secondary Accessions:
    • B4DHE7
    • B9ZVY2
    • Q8N8U6
    • Q8NCX1
    • Q8NFF0
    • Q8NFF1

    Protein attributes for SLC24A4 Gene

    Size:
    622 amino acids
    Molecular mass:
    69042 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH69653.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAM76070.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAM76071.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04715.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAD38903.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC24A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC24A4 Gene

Proteomics data for SLC24A4 Gene at MOPED

Post-translational modifications for SLC24A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC24A4 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC24A4

No data available for DME Specific Peptides for SLC24A4 Gene

Domains & Families for SLC24A4 Gene

Gene Families for SLC24A4 Gene

Protein Domains for SLC24A4 Gene

Suggested Antigen Peptide Sequences for SLC24A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFF2

UniProtKB/Swiss-Prot:

NCKX4_HUMAN :
  • Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.
Family:
  • Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.
genes like me logo Genes that share domains with SLC24A4: view

Function for SLC24A4 Gene

Molecular function for SLC24A4 Gene

UniProtKB/Swiss-Prot Function:
Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for SLC24A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008273 calcium, potassium:sodium antiporter activity IEA,TAS --
genes like me logo Genes that share ontologies with SLC24A4: view
genes like me logo Genes that share phenotypes with SLC24A4: view

Human Phenotype Ontology for SLC24A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC24A4 Gene

MGI Knock Outs for SLC24A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC24A4

CRISPR Products

miRNA for SLC24A4 Gene

miRTarBase miRNAs that target SLC24A4

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC24A4 Gene

Localization for SLC24A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC24A4 Gene

Cytoplasm. Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC24A4 Gene COMPARTMENTS Subcellular localization image for SLC24A4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for SLC24A4 Gene

Pathways & Interactions for SLC24A4 Gene

genes like me logo Genes that share pathways with SLC24A4: view

Interacting Proteins for SLC24A4 Gene

Gene Ontology (GO) - Biological Process for SLC24A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0007608 sensory perception of smell ISS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC24A4: view

No data available for SIGNOR curated interactions for SLC24A4 Gene

Drugs & Compounds for SLC24A4 Gene

(1) Drugs for SLC24A4 Gene - From: HMDB

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

(1) Additional Compounds for SLC24A4 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 SLC24A4: view

Transcripts for SLC24A4 Gene

Unigene Clusters for SLC24A4 Gene

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: -

Relevant External Links for SLC24A4 Gene

GeneLoc Exon Structure for
SLC24A4
ECgene alternative splicing isoforms for
SLC24A4

Expression for SLC24A4 Gene

mRNA expression in normal human tissues for SLC24A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC24A4 Gene

This gene is overexpressed in Whole Blood (x8.7) and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for SLC24A4 Gene

This gene is overexpressed in Liver (58.8) and Spinal cord (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC24A4 Gene



SOURCE GeneReport for Unigene cluster for SLC24A4 Gene Hs.385530

mRNA Expression by UniProt/SwissProt for SLC24A4 Gene

Q8NFF2-NCKX4_HUMAN
Tissue specificity: Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.
genes like me logo Genes that share expression patterns with SLC24A4: view

Protein tissue co-expression partners for SLC24A4 Gene

Primer Products

Orthologs for SLC24A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC24A4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC24A4 35
  • 88.85 (n)
  • 92.32 (a)
SLC24A4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC24A4 35
  • 88.97 (n)
  • 93.88 (a)
SLC24A4 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc24a4 35
  • 88.62 (n)
  • 94.37 (a)
Slc24a4 16
Slc24a4 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC24A4 35
  • 99.17 (n)
  • 99.24 (a)
SLC24A4 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC24A4 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC24A4 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC24A4 35
  • 75.66 (n)
  • 79.86 (a)
SLC24A4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC24A4 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc24a4 35
  • 70.47 (n)
  • 74.39 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.12707 35
slc24a4b 35
  • 68.58 (n)
  • 69.69 (a)
slc24a4a 36
  • 67 (a)
OneToMany
slc24a4b 36
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1090 37
  • 43 (a)
CG12061 37
  • 38 (a)
CG2893 37
  • 48 (a)
CG1090 35
  • 55.11 (n)
  • 47.62 (a)
CG12061 36
  • 37 (a)
ManyToMany
CG17167 36
  • 27 (a)
ManyToMany
CG2893 36
  • 37 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004518 35
  • 48.96 (n)
  • 38.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1993 36
  • 32 (a)
OneToMany
Species with no ortholog for SLC24A4:
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SLC24A4 Gene

ENSEMBL:
Gene Tree for SLC24A4 (if available)
TreeFam:
Gene Tree for SLC24A4 (if available)

Paralogs for SLC24A4 Gene

Paralogs for SLC24A4 Gene

(4) SIMAP similar genes for SLC24A4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC24A4: view

Variants for SLC24A4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC24A4 Gene

NCKX4_HUMAN-Q8NFF2
Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

Sequence variations from dbSNP and Humsavar for SLC24A4 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs4900130 - 92,493,596(+) CCTTC(A/G)TCAAC downstream-variant-500B, reference, missense, utr-variant-3-prime
VAR_070183 Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5)
VAR_071475 Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5)
rs7140690 -- 92,456,896(+) CCACA(C/T)TTAAA intron-variant
rs7141594 -- 92,487,426(+) AATGG(C/G)GTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC24A4 Gene

Variant ID Type Subtype PubMed ID
nsv832859 CNV Loss 17160897
nsv902194 CNV Gain 21882294
esv2678086 CNV Deletion 23128226
nsv902195 CNV Loss 21882294
nsv902196 CNV Gain 21882294
esv2670270 CNV Deletion 23128226
esv2749020 CNV Deletion 23290073
nsv827026 CNV Loss 20364138
nsv902197 CNV Loss 21882294
esv2749021 CNV Deletion 23290073
nsv832860 CNV Gain 17160897
nsv85147 CNV Loss 16902084
nsv902198 CNV Gain 21882294
nsv902199 CNV Loss 21882294
esv2664947 CNV Deletion 23128226
esv2749022 CNV Deletion 23290073
esv2172968 CNV Deletion 18987734
nsv84566 CNV Loss 16902084
esv2749023 CNV Deletion 23290073
esv1013454 CNV Deletion 17803354
esv274487 CNV Insertion 20981092

Variation tolerance for SLC24A4 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC24A4 Gene

Human Gene Mutation Database (HGMD)
SLC24A4

Disorders for SLC24A4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC24A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia5
  • amelogenesis imperfecta, hypomaturation type, 2a5
amelogenesis imperfecta hypomaturation type
  • aih
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NCKX4_HUMAN
  • Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:23375655, ECO:0000269 PubMed:24621671}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC24A4

Genetic Association Database (GAD)
SLC24A4
Human Genome Epidemiology (HuGE) Navigator
SLC24A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC24A4
genes like me logo Genes that share disorders with SLC24A4: view

No data available for Genatlas for SLC24A4 Gene

Publications for SLC24A4 Gene

  1. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PMID: 17952075) Sulem P. … Stefansson K. (Nat. Genet. 2007) 3 4 48 67
  2. Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. (PMID: 12379639) Li X.-F. … Lytton J. (J. Biol. Chem. 2002) 3 23
  3. Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease. (PMID: 25365775) Yu L. … Bennett D.A. (JAMA Neurol 2015) 3
  4. Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients. (PMID: 25500693) Hong H. … Zhang H. (Pediatr Cardiol 2015) 3
  5. STIM1 and SLC24A4 are critical for enamel maturation. (PMID: 24621671) Wang S. … Hu J.C. (J. Dent. Res. 2014) 3

Products for SLC24A4 Gene

Sources for SLC24A4 Gene

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