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SLC24A4 Gene

protein-coding   GIFtS: 57
GCID: GC14P092788

Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger),...

  See SLC24A4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member
41 2
     SLC24A22
NCKX42 3 5     Sodium/Potassium/Calcium Exchanger 42
Na(+)/K(+)/Ca(2+)-Exchange Protein 42 3     Solute Carrier Family 24 Member 43
SHEP62 5     

External Ids:    HGNC: 109781   Entrez Gene: 1230412   Ensembl: ENSG000001400907   OMIM: 6098405   UniProtKB: Q8NFF23   

Export aliases for SLC24A4 gene to outside databases

Previous GC identifers: GC14P090403 GC14P086604 GC14P090778 GC14P091858 GC14P072971


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (sodium/potassium/calcium exchanger), member 4) is a protein-coding gene. Diseases associated with SLC24A4 include amelogenesis imperfecta, type ia5, and amelogenesis imperfecta, type iii. GO annotations related to this gene include antiporter activity and symporter activity. An important paralog of this gene is SLC24A3.

UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC24A4 gene promoter:
         HSF2   HOXA5   ARP-1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC24A4 promoter sequence
   Search Chromatin IP Primers for SLC24A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC24A4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.12

SLC24A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC24A4 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P092788:  view genomic region     (about GC identifiers)

Start:
92,788,925 bp from pter      End:
92,967,825 bp from pter
Size:
178,901 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2 (See protein sequence)
Recommended Name: Sodium/potassium/calcium exchanger 4 precursor  
Size: 622 amino acids; 69042 Da
Caution: It is uncertain whether Met-1 or Met-18 is the initiator
Sequence caution: Sequence=AAH69653.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAM76070.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAM76071.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04715.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact; Sequence=CAD38903.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: B4DHE7 B9ZVY2 Q8N8U6 Q8NCX1 Q8NFF0 Q8NFF1
Alternative splicing: 4 isoforms:  Q8NFF2-1   Q8NFF2-2   Q8NFF2-3   Q8NFF2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC24A4: NX_Q8NFF2

Explore proteomics data for SLC24A4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn69, Asn76
  • Modification sites at PhosphoSitePlus

  • See SLC24A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_705932.2  NP_705933.2  NP_705934.1  

    ENSEMBL proteins: 
     ENSP00000376948   ENSP00000433302   ENSP00000431840   ENSP00000452099   ENSP00000432464  
     ENSP00000298877   ENSP00000337789  
    Reactome Protein details: Q8NFF2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium/potassium/calcium exchanger 4
    SLC24 family of sodium/potassium/calcium exchangers

    2 InterPro protein domains:
     IPR004481 K/Na/Ca-exchanger
     IPR004837 NaCa_Exmemb

    Graphical View of Domain Structure for InterPro Entry Q8NFF2

    ProtoNet protein and cluster: Q8NFF2

    1 Blocks protein domain: IPB004837 Sodium/calcium exchanger membrane region

    UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2
    Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily


    Find genes that share domains with SLC24A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NCKX4_HUMAN, Q8NFF2
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008273calcium, potassium:sodium antiporter activity IEA--
    GO:0015293symporter activity IEA--
    GO:0015297antiporter activity ----
         
    Find genes that share ontologies with SLC24A4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC24A4:
     Increased Salmonella enterica  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc24a4):
     craniofacial  growth/size/body  nervous system  taste/olfaction 

    Find genes that share phenotypes with SLC24A4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc24a4tm1.1Hazh for SLC24A4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC24A4
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    hsa-miR-194* hsa-miR-607 hsa-miR-193a-3p hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-3921 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSLC24A4 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NCKX4_HUMAN, Q8NFF2: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC24A4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC24A4 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Sodium/Calcium exchangers0.00
    2Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods
    3Sodium coupled transporters and pumps
    Sodium coupled transporters and pumps


    Find genes that share SuperPaths with SLC24A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SLC24A4
        Visual Cycle in Retinal Rods

    1 Reactome Pathway for SLC24A4
        Sodium/Calcium exchangers


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC24A4
    Interactions:

        Search GeneGlobe Interaction Network for SLC24A4

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0006816calcium ion transport ----
    GO:0006874cellular calcium ion homeostasis IEA--

    Find genes that share ontologies with SLC24A4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC24A4 (NCKX4)

    2 HMDB Compounds for SLC24A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC24A4 gene (3 alternative transcripts): 
    NM_153646.3  NM_153647.3  NM_153648.3  

    Unigene Cluster for SLC24A4:

    Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
    Hs.385530  [show with all ESTs]
    Unigene Representative Sequence: NM_153647
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393265(uc001yai.3 uc010twn.2) ENST00000531433(uc010twm.2)
    ENST00000532405(uc001yak.3) ENST00000554461 ENST00000525557(uc010auj.3)
    ENST00000554925 ENST00000556739 ENST00000526482(uc001yan.3) ENST00000298877
    ENST00000351924
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC24A4 (see all 110):
    hsa-miR-194* hsa-miR-607 hsa-miR-193a-3p hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-3921 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSLC24A4 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SLC24A4

    Additional mRNA sequence: 

    AF520704.1 AF520705.1 AF520706.1 AK093061.1 AK096171.1 AK295059.1 AK295234.1 BC034805.1 
    BC050357.1 BC069653.1 BX648995.1 

    8 DOTS entries:

    DT.100019942  DT.91996294  DT.435079  DT.100019941  DT.99935501  DT.101979936  DT.99932774  DT.100019944 

    Selected AceView cDNA sequences (see all 28):

    AL042630 M79260 NM_153647 AF520704 AF520706 BC069653 AF520705 BX103620 
    BM720360 AL834225 NM_153646 NM_153648 AK096171 BC037863 M79261 CD000254 
    AW337854 BI753920 BX493831 BX648995 BX509825 W90717 BI461118 W90718 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A4    About this scheme

    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:                                                                                                                          -               


    ECgene alternative splicing isoforms for SLC24A4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC24A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC24A4 Expression
    About this image


    SLC24A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
    SLC24A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC24A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.385530

    UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2
    Tissue specificity: Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower
    levels in the stomach and intestine

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC24A4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc24a41 , 5 solute carrier family 24 (sodium/potassium/calcium more1, 5 88.62(n)1
    94.37(a)1
      12 (51.42 cM)5
    2383841  NM_172152.21  NP_742164.11 
     1021287335 
    chicken
    (Gallus gallus)
    Aves SLC24A41 solute carrier family 24 (sodium/potassium/calcium more 75.66(n)
    79.86(a)
      772279  XM_004941876.1  XP_004941933.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC24A46
    solute carrier family 24 (sodium/potassium/calcium...
    72(a)
    1 ↔ 1
    1(11398121-11433810)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc24a41 solute carrier family 24 (sodium/potassium/calcium more 70.47(n)
    74.39(a)
      100489343  XM_002933226.2  XP_002933272.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.127072 Transcribed sequence with moderate similarity to protein more 78.54(n)    BI878483.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG28933
    CG10901
    calcium, potassium:sodium antiporter3
    CG10901
    48(a)
    (best of 3)3
    55.11(n)1
    47.62(a)1
      405511  NM_001275323.11  NP_001262252.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC24A4 gene
    SLC24A32  SLC24A52  SLC8B12  SLC24A12  SLC24A22  
    4 SIMAP similar genes for SLC24A4 using alignment to 3 protein entries:     NCKX4_HUMAN (see all proteins):
    SLC24A3    SLC24A1    SLC24A2    SLC24A5

    Find genes that share paralogs with SLC24A4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for SLC24A4 (see all 4283)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2000441481,2
    --72999677(+) AAGAG-/AGGGTC 3 -- int10--------
    rs1901780591,2
    --73002666(+) TCACCC/TCGCAG 3 -- int10--------
    rs1822266701,2
    C--73002667(+) CACCTC/TGCAGT 3 -- int10--------
    rs803366151,2
    F--73007406(+) TTTTTG/TTTTTT 3 -- int11Minor allele frequency- T:0.50NA 4
    rs1118808421,2
    F--73021574(+) GTCCCC/TTCCTT 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1837802711,2
    --73021597(+) CCTTCC/GTTCCT 3 -- int10--------
    rs560922571,2
    C--73021641(+) TTTCTT/CTTTCT 3 -- int11Minor allele frequency- C:0.00NA 2
    rs348836931,2
    C--73118212(+) AAAAAA/-GGTTA 3 -- int11Minor allele frequency- -:0.00NA 2
    rs1999980661,2
    C--73123492(+) TGTAT-/ATA   
       TATAC
    ATATA
    3 -- int10--------
    rs346353491,2
    C--73126455(+) TTCTC-/TTTTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC24A4 (92788925 - 92967825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC24A4 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749022CNV Deletion23290073
    esv2670270CNV Deletion23128226
    esv1013454CNV Deletion17803354
    esv2172968CNV Deletion18987734
    esv2749020CNV Deletion23290073
    esv2749021CNV Deletion23290073
    esv2664947CNV Deletion23128226
    esv2678086CNV Deletion23128226
    esv2749023CNV Deletion23290073
    esv274487CNV Insertion20981092

    Human Gene Mutation Database (HGMD): SLC24A4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC24A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC24A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609840   
    OMIM disorders: 210750  
    UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2
  • Note=SLC24A4 mutations may be a cause of autosomal recessive hypomineralized amelogenesis imperfecta
    (AI), a defect of enamel formation characterized by variable degrees of incomplete mineralization of the enamel
    matrix, typically with a near-normal enamel matrix volume prior to posteruptive changes and premature failure

  • 2 diseases for SLC24A4:    
    About MalaCards
    amelogenesis imperfecta, type ia5    amelogenesis imperfecta, type iii

    1 disease from the University of Copenhagen DISEASES database for SLC24A4:
    Oculocutaneous albinism

    Find genes that share disorders with SLC24A4           About GenesLikeMe

    Genetic Association Database (GAD): SLC24A4
    Human Genome Epidemiology (HuGE) Navigator: SLC24A4 (9 documents)

    Export disorders for SLC24A4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC24A4 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with SLC24A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (Nat. Genet. 2007)
    2. Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. (PubMed id 12379639)1, 2, 9 Li X.-F.... Lytton J. (J. Biol. Chem. 2002)
    3. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (PubMed id 23375655)1, 2 Parry D.A....Mighell A.J. (Am. J. Hum. Genet. 2013)
    4. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PubMed id 21546767)1, 4 Murea M....Freedman B.I. (Am. J. Nephrol. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PubMed id 19710684)1, 4 Duffy D.L....Montgomery G.W. (J. Invest. Dermatol. 2010)
    7. A genome-wide association study of hypertension and blood pressure in African Americans. (PubMed id 19609347)1, 4 Adeyemo A....Rotimi C. (PLoS Genet. 2009)
    8. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. (PubMed id 18483556)1, 4 Han J....Hunter D.J. (PLoS Genet. 2008)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 123041 HGNC: 10978 AceView: SLC24A4 Ensembl:ENSG00000140090 euGenes: HUgn123041
    ECgene: SLC24A4 H-InvDB: SLC24A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC24A4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC24A4 gene:
    Search GeneIP for patents involving SLC24A4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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