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SLC24A5 Gene

protein-coding   GIFtS: 52
GCID: GC15P048413

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

(Previous names: solute carrier family 24, member 5)
  See SLC24A5-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
51 2
     OCA62 5
NCKX52 3 5     SHEP42 5
Solute Carrier Family 24, Member 51 2     Ion Transporter JSX2
Oculocutaneous Albinism 6 (Autosomal Recessive)1 2     Sodium/Potassium/Calcium Exchanger 52
JSX2 3     Solute Carrier Family 24 Member 53
Na(+)/K(+)/Ca(2+)-Exchange Protein 52 3     

External Ids:    HGNC: 206111   Entrez Gene: 2836522   Ensembl: ENSG000001884677   OMIM: 6098025   UniProtKB: Q71RS63   

Export aliases for SLC24A5 gene to outside databases

Previous GC identifers: GC00U900962 GC15P046118 GC15P046200 GC15P025246


(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 SLC24A5 Gene:
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular
membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence
variation in this gene has been associated with differences in skin pigmentation. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC24A5 Gene:
SLC24A5 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 5) is a protein-coding gene. Diseases associated with SLC24A5 include albinism, oculocutaneous, type vi, and oculocutaneous albinism. GO annotations related to this gene include antiporter activity and symporter activity. An important paralog of this gene is SLC24A3.

UniProtKB/Swiss-Prot: NCKX5_HUMAN, Q71RS6
Function: Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes.
Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in
exchange for 4 cytoplasmic Na(+)

Gene Wiki entry for SLC24A5 Gene


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the SLC24A5 gene promoter:
         STAT1   NCX/Ncx   MyoD   STAT1beta   POU6F1 (c2)   GATA-1   STAT1alpha   S8   Cart-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC24A5 promoter sequence
   Search Chromatin IP Primers for SLC24A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC24A5


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

SLC24A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC24A5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P048413:  view genomic region     (about GC identifiers)

Start:
48,413,169 bp from pter      End:
48,434,869 bp from pter
Size:
21,701 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: NCKX5_HUMAN, Q71RS6 (See protein sequence)
Recommended Name: Sodium/potassium/calcium exchanger 5 precursor  
Size: 500 amino acids; 54888 Da
Secondary accessions: A5X8Z8 A5X8Z9 Q14CT4 Q6DKH3
Alternative splicing: 2 isoforms:  Q71RS6-1   Q71RS6-2   

Explore the universe of human proteins at neXtProt for SLC24A5: NX_Q71RS6

Explore proteomics data for SLC24A5 at MOPED


See SLC24A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_995322.1  
ENSEMBL proteins: 
 ENSP00000341550   ENSP00000453395   ENSP00000389966  
Reactome Protein details: Q71RS6

SLC24A5 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for SLC24A5

 
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LSBio Antibodies in human, mouse, rat for SLC24A5

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Cloud-Clone Corp. CLIAs for SLC24A5
Search eBioscience for ELISAs for SLC24A5 


(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 5
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 Q71RS6

ProtoNet protein and cluster: Q71RS6

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

UniProtKB/Swiss-Prot: NCKX5_HUMAN, Q71RS6
Similarity: Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily


Find genes that share domains with SLC24A5           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: NCKX5_HUMAN, Q71RS6
Function: Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes.
Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in
exchange for 4 cytoplasmic Na(+)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008273calcium, potassium:sodium antiporter activity IDA18166528
GO:0015293symporter activity IEA--
     
Find genes that share ontologies with SLC24A5           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for SLC24A5:
 Small cells 

     5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc24a5):
 craniofacial  hearing/vestibular/ear  integument  pigmentation  vision/eye 

Find genes that share phenotypes with SLC24A5           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC24A5
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC24A5

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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC24A5

miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat SLC24A5

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OriGene ORF clones in mouse, rat for SLC24A5
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GenScript: all cDNA clones in your preferred vector: SLC24A5 (NM_205850)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC24A5

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC24A5


(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
NCKX5_HUMAN, Q71RS6: Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Melanosome.
Note=Enriched in late-stage melanosomes
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane4
endoplasmic reticulum1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005794Golgi apparatus IEA--
GO:0005802trans-Golgi network IDA18166528
GO:0005886plasma membrane TAS--
GO:0016021integral component of membrane IEA--
GO:0042470melanosome IEA--

Find genes that share ontologies with SLC24A5           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 SLC24A5 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


Find genes that share SuperPaths with SLC24A5           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for SLC24A5
    Sodium/Calcium exchangers


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC24A5
Interactions:

    Search GeneGlobe Interaction Network for SLC24A5

Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006811ion transport TAS--
GO:0034220ion transmembrane transport IDA18166528
GO:0035725sodium ion transmembrane transport IDA18166528
GO:0050896response to stimulus IEA--
GO:0055085transmembrane transport TAS--

Find genes that share ontologies with SLC24A5           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
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SLC24A5 (NCKX5)

2 HMDB Compounds for SLC24A5    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 SLC24A5 gene: 
NM_205850.2  

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000341459(uc001zwe.3 uc010bel.3) ENST00000482911(uc001zwd.3)
ENST00000449382(uc001zwk.3) ENST00000463289
miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat SLC24A5
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Primer
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  QuantiTect SYBR Green Assays in human, mouse, rat SLC24A5
  QuantiFast Probe-based Assays in human, mouse, rat SLC24A5

Selected AceView cDNA sequences (see all 42):

AF348468 AI969605 NM_205850 BI858597 BF445399 BU188045 BC073944 BM263399 
BE221473 AA625302 AA885702 AI240404 AI302242 BU183014 BF979157 BF938949 
H96671 BE897278 BE327994 BU608093 BQ423791 BG762279 AI082695 BF732396 

GeneLoc Exon Structure


(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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SLC24A5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SLC24A5 Expression
About this image


SLC24A5 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
 
 Brain (Nervous System)
         Mature Choroid Plexus Cells Choroid Plexus
 
 Liver (Hepatobiliary System)
SLC24A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SLC24A5 Protein Expression
    Custom PCR Arrays for SLC24A5
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC24A5

(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 SLC24A5 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Slc24a51 , 5 solute carrier family 24, member 51, 5 83.83(n)1
84.97(a)1
  2 (61.14 cM)5
3177501  NM_175034.31  NP_778199.21 
 1250681245 
chicken
(Gallus gallus)
Aves SLC24A51 solute carrier family 24, member 5 71.81(n)
72.75(a)
  415431  NM_001038497.2  NP_001033586.2 
lizard
(Anolis carolinensis)
Reptilia SLC24A56
solute carrier family 24 (sodium/potassium/calcium...
72(a)
1 ↔ 1
GL343561.1(305815-321076)
tropical clawed frog
(Xenopus tropicalis)
Amphibia BX739745.12   -- 72.7(n)    BX739745.1 
zebrafish
(Danio rerio)
Actinopterygii slc24a51 solute carrier family 24, member 5 63.61(n)
68.64(a)
  570312  NM_001030280.1  NP_001025451.1 
fruit fly
(Drosophila melanogaster)
Insecta CG10906
--
30(a)
1 ↔ 1
3R(185605-192577)


ENSEMBL Gene Tree for SLC24A5 (if available)
TreeFam Gene Tree for SLC24A5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SLC24A5 gene
SLC24A32  SLC8B12  SLC24A42  SLC24A12  SLC24A22  
4 SIMAP similar genes for SLC24A5 using alignment to 2 protein entries:     NCKX5_HUMAN (see all proteins):
SLC24A1    SLC24A4    SLC24A3    SLC24A2

Find genes that share paralogs with SLC24A5           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
NCKX5_HUMAN, Q71RS6: Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4)
[MIM:113750]. 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
NCKX5_HUMAN, Q71RS6: The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the
Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction
in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations


Selected SNPs for SLC24A5 (see all 352)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs14266541,2,,4
C,F,A,Hother128492523(+) CAGGCA/GCAACT 2 T A mis1 ese336Minor allele frequency- G:0.39WA NA EA CA CSAM NS EU 9077
rs73592711,2
C--28477649(+) ATGTAA/GGCCAC 1 -- us2k10--------
rs798754561,2
F--28477654(+) GGCCAC/GTCCCC 1 -- us2k12Minor allele frequency- G:0.15CSA WA 120
rs1394929971,2
--28477688(+) CGAGTA/GTAGAC 1 -- us2k10--------
rs1880954241,2
--28477780(+) CATACA/CTCTGA 1 -- us2k10--------
rs557284041,2
C--28477854(+) AAAAGT/GAGTTT 1 -- us2k13Minor allele frequency- G:0.15CSA WA EA 240
rs26753461,2
C,F,A,H--28477870(+) ACTTTC/TTTCCG 1 -- us2k130Minor allele frequency- T:0.38NS EA NA WA CSA 3095
rs1428892531,2
C--28477874(+) TCTTCC/TGACCC 1 -- us2k10--------
rs73592781,2
C,F,H--28477954(+) TACTAG/AGCATA 1 -- us2k18Minor allele frequency- A:0.01NS EA NA 836
rs1924030501,2
--28477971(+) TTTGTA/GTTTTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SLC24A5 (48413169 - 48434869 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SLC24A5:    About this table    
Variant IDTypeSubtypePubMed ID
nsv832999CNV Gain17160897

Human Gene Mutation Database (HGMD): SLC24A5
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SLC24A5
DNA2.0 Custom Variant and Variant Library Synthesis for SLC24A5

(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: 609802   
OMIM disorders: 113750  
4 diseases for SLC24A5:    
About MalaCards
albinism, oculocutaneous, type vi    oculocutaneous albinism    patent ductus arteriosus    albinism

2 diseases from the University of Copenhagen DISEASES database for SLC24A5:
Oculocutaneous albinism     Ocular albinism

Find genes that share disorders with SLC24A5           About GenesLikeMe

Genetic Association Database (GAD): SLC24A5
Human Genome Epidemiology (HuGE) Navigator: SLC24A5 (10 documents)

Export disorders for SLC24A5 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 SLC24A5 gene, integrated from 10 sources (see all 22):
(articles sorted by number of sources associating them with SLC24A5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A genomewide association study of skin pigmentation in a South Asian population. (PubMed id 17999355)1, 2, 4 Stokowski R.P....Cox D.R. (Am. J. Hum. Genet. 2007)
  2. SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. (PubMed id 18166528)1, 2, 9 Ginger R.S....Green M.R. (J. Biol. Chem. 2008)
  3. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. (PubMed id 16357253)1, 2, 9 Lamason R.L.... Cheng K.C. (Science 2005)
  4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2, 9 Chi A....Hunt D.F. (J. Proteome Res. 2006)
  5. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. (PubMed id 23364476)1, 3 Wei A.H....Li W. (J. Invest. Dermatol. 2013)
  6. A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. (PubMed id 19944766)1, 4 Meda S.A....Pearlson G.D. (Neuroimage 2010)
  7. Genetic associations of brain structural networks in schizophrenia: a preliminary study. (PubMed id 20691427)1, 4 Jagannathan K....Pearlson G.D. (Biol. Psychiatry 2010)
  8. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. (PubMed id 19060277)1, 4 GrA...Rosenberg T. (amp 2009)
  9. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. (PubMed id 19384953)1, 4 Nan H....Han J. (Int. J. Cancer 2009)
  10. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 283652 HGNC: 20611 AceView: SLC24A5 Ensembl:ENSG00000188467 euGenes: HUgn283652
ECgene: SLC24A5 H-InvDB: SLC24A5

(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 SLC24A5 Pharmacogenomics, SNPs, Pathways
Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/074

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