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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC24A4 Gene

protein-coding   GIFtS: 57
GCID: GC14P092788

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

  See 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)
About This Section

Aliases
Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member
41 2
     SLC24A22 5
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 rosacea, and oculocutaneous albinism, and among its related super-pathways are Sodium/Calcium exchangers and Transmembrane transport of small molecules. 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(+)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC24A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2 (See protein sequence)
Recommended Name: Sodium/potassium/calcium exchanger 4 precursor  
Size: 622 amino acids; 69042 Da
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFF2

  • SLC24A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC24A4 Protein Expression
    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
    Human Recombinant Protein Products for SLC24A4: 
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    Novus Biologicals SLC24A4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC24A4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    SLC24A4 for ontologies           About GeneDecksing



    SLC24A4 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SLC24A4 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NCKX4_HUMAN, Q8NFF2
    Function: Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015293symporter activity IEA--
    GO:0015297antiporter activity IEA--
         
    SLC24A4 for ontologies           About GeneDecksing


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

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

    SLC24A4 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC24A4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC24A4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC24A4 

    miRNA
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    8/110 QIAGEN miScript miRNA 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
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC24A4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC24A4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sodium-coupled transporters and pumps
    Sodium/Calcium exchangers0.30
    Sodium-coupled transporters and pumps0.30
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    4Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC24A4
        Sodium-coupled transporters and pumps

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

    4        Reactome Pathways for SLC24A4
        Sodium/Calcium exchangers
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC24A4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC24A4

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006813potassium ion transport IEA--
    GO:0006814sodium ion transport IEA--
    GO:0006816calcium ion transport IEA--
    GO:0055085transmembrane transport TAS--

    SLC24A4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for SLC24A4:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about SLC24A4 / NCKX4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/110 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC24A4
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    GenScript: all cDNA clones in your preferred vector (see all 3): SLC24A4 (NM_153648)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC24A4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC24A4
    Sirion Biotech Customized lentivirus for stable overexpression of SLC24A4 
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    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 

    24/28 AceView cDNA sequences (see all 28):

    BC069653 NM_153647 BX103620 NM_153648 AL042630 AL834225 AF520705 AF520706 
    NM_153646 M79260 BM720360 AF520704 AW337854 BX509825 M79261 BX493831 
    CD000254 BX648995 BC037863 AK096171 BI753920 W90717 BI461118 BF990322 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC24A4 expression in normal human tissues (normalized intensities)      SLC24A4 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             lens   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See SLC24A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC24A4

    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

        SABiosciences Custom PCR Arrays for SLC24A4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC24A4

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC24A4 gene from 5/13 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 88.82(n)1
    94.38(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 76.31(n)
    82.09(a)
      772279  XM_001235437.2  XP_001235438.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC24A46
    Uncharacterized protein
    71(a)
    1 ↔ 1
    1(11398121-11433810)
    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
    55.35(n)1
    47.71(a)1
      405511  NM_141202.31  NP_649459.31 


    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)
    About This Section
    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

    SLC24A4 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: NCKX4_HUMAN, Q8NFF2
    Polymorphism: 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


    10/4282 SNPs in SLC24A4 are shown (see all 4282)    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) 10/21 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609840   
    OMIM disorders: 210750  
    7 diseases for SLC24A4:    About MalaCards
    rosacea    oculocutaneous albinism    cutaneous malignant melanoma    albinism
    melanoma    hypertension    retinitis

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

    SLC24A4 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC24A4 gene, integrated from 9 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. (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. (2002)
    3. 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. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. 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. (2010)
    6. A genome-wide association study of hypertension and b lood pressure in African Americans. (PubMed id 19609347)1, 4 Adeyemo A....Rotimi C. (2009)
    7. 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. (2008)
    8. 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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Genome-wide association studies identify several new l oci associated with pigmentation traits and skin cancer risk in European America ns. (PubMed id 23548203)1 Zhang M....Han J. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 123041 HGNC: 10978 AceView: SLC24A4 Ensembl:ENSG00000140090 euGenes: HUgn123041
    ECgene: SLC24A4 H-InvDB: SLC24A4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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