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Aliases for SLC24A5 Gene

Aliases for SLC24A5 Gene

  • Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 5 2 3
  • NCKX5 3 4 6
  • Oculocutaneous Albinism 6 (Autosomal Recessive) 2 3
  • Na(+)/K(+)/Ca(2+)-Exchange Protein 5 3 4
  • Solute Carrier Family 24, Member 5 2 3
  • SHEP4 3 6
  • OCA6 3 6
  • JSX 3 4
  • Sodium/Potassium/Calcium Exchanger 5 3
  • Solute Carrier Family 24 Member 5 4
  • Ion Transporter JSX 3

External Ids for SLC24A5 Gene

Previous GeneCards Identifiers for SLC24A5 Gene

  • GC00U900962
  • GC15P046118
  • GC15P046200
  • GC15P048413
  • GC15P025246

Summaries for SLC24A5 Gene

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 patent ductus arteriosus. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include symporter activity and antiporter activity. An important paralog of this gene is SLC24A4.

UniProtKB/Swiss-Prot for SLC24A5 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC24A5 Gene

Genomics for SLC24A5 Gene

Regulatory Elements for SLC24A5 Gene

Genomic Location for SLC24A5 Gene

Start:
48,120,972 bp from pter
End:
48,142,672 bp from pter
Size:
21,701 bases
Orientation:
Plus strand

Genomic View for SLC24A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC24A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC24A5 Gene

Proteins for SLC24A5 Gene

  • Protein details for SLC24A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71RS6-NCKX5_HUMAN
    Recommended name:
    Sodium/potassium/calcium exchanger 5
    Protein Accession:
    Q71RS6
    Secondary Accessions:
    • A5X8Z8
    • A5X8Z9
    • Q14CT4
    • Q6DKH3

    Protein attributes for SLC24A5 Gene

    Size:
    500 amino acids
    Molecular mass:
    54888 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC24A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC24A5 Gene

Proteomics data for SLC24A5 Gene at MOPED

Post-translational modifications for SLC24A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC24A5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC24A5 Gene

Domains for SLC24A5 Gene

Gene Families for SLC24A5 Gene

Protein Domains for SLC24A5 Gene

Suggested Antigen Peptide Sequences for SLC24A5 Gene

Graphical View of Domain Structure for InterPro Entry

Q71RS6

UniProtKB/Swiss-Prot:

NCKX5_HUMAN :
  • Q71RS6
Family:
  • Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.
genes like me logo Genes that share domains with SLC24A5: view

Function for SLC24A5 Gene

Molecular function for SLC24A5 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SLC24A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008273 calcium, potassium:sodium antiporter activity IDA 18166528
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC24A5: view

Phenotypes for SLC24A5 Gene

genes like me logo Genes that share phenotypes with SLC24A5: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC24A5 Gene

Localization for SLC24A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC24A5 Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Melanosome. Note=Enriched in late-stage melanosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC24A5 Gene COMPARTMENTS Subcellular localization image for SLC24A5 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC24A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network IDA 18166528
GO:0005886 plasma membrane --
GO:0016021 integral component of membrane IEA --
GO:0032588 trans-Golgi network membrane TAS --
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with SLC24A5: view

Pathways for SLC24A5 Gene

genes like me logo Genes that share pathways with SLC24A5: view

Interacting Proteins for SLC24A5 Gene

Gene Ontology (GO) - Biological Process for SLC24A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0034220 ion transmembrane transport IDA 18166528
GO:0035725 sodium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC24A5: view

Compounds for SLC24A5 Gene

(2) HMDB Compounds for SLC24A5 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Sodium
  • Sodium
7440-23-5
genes like me logo Genes that share compounds with SLC24A5: view

Transcripts for SLC24A5 Gene

Unigene Clusters for SLC24A5 Gene

Solute carrier family 24, member 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A5 Gene

No ASD Table

Relevant External Links for SLC24A5 Gene

GeneLoc Exon Structure for
SLC24A5
ECgene alternative splicing isoforms for
SLC24A5

Expression for SLC24A5 Gene

mRNA expression in normal human tissues for SLC24A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC24A5 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.5) and Brain - Cerebellum (5.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC24A5 Gene

SOURCE GeneReport for Unigene cluster for SLC24A5 Gene Hs.710240

genes like me logo Genes that share expressions with SLC24A5: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SLC24A5 Gene

Orthologs for SLC24A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC24A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC24A5 35
  • 99.6 (n)
  • 99.4 (a)
SLC24A5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC24A5 35
  • 90.05 (n)
  • 90.89 (a)
SLC24A5 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC24A5 35
  • 90.87 (n)
  • 90.6 (a)
SLC24A5 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc24a5 35
  • 83.83 (n)
  • 84.97 (a)
Slc24a5 16
Slc24a5 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC24A5 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC24A5 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC24A5 35
  • 71.81 (n)
  • 72.75 (a)
SLC24A5 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC24A5 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc24a5 35
  • 70.67 (n)
  • 71.67 (a)
zebrafish
(Danio rerio)
Actinopterygii slc24a5 35
  • 63.61 (n)
  • 68.64 (a)
slc24a5 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1090 36
  • 30 (a)
OneToOne
Species with no ortholog for SLC24A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SLC24A5 Gene

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

Paralogs for SLC24A5 Gene

Paralogs for SLC24A5 Gene

Selected SIMAP similar genes for SLC24A5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC24A5: view

Variants for SLC24A5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC24A5 Gene

Q71RS6-NCKX5_HUMAN
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

Sequence variations from dbSNP and Humsavar for SLC24A5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs938506 -- 48,130,665(+) CCCTG(A/T)TTTGA intron-variant
rs955940 -- 48,129,363(-) ACTGG(G/T)TCTGA intron-variant
rs965828 -- 48,136,394(+) TTTTC(A/C)TTGCA intron-variant
rs1365455 -- 48,125,299(+) TATAT(A/C)TATAT intron-variant
rs1426654 Pathogenic, - 48,134,287(+) CAGGC(A/G)CAACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC24A5 Gene

Variant ID Type Subtype PubMed ID
nsv832999 CNV Gain 17160897

Relevant External Links for SLC24A5 Gene

HapMap Linkage Disequilibrium report
SLC24A5
Human Gene Mutation Database (HGMD)
SLC24A5

Disorders for SLC24A5 Gene

(1) OMIM Diseases for SLC24A5 Gene (609802)

UniProtKB/Swiss-Prot

NCKX5_HUMAN
  • Albinism, oculocutaneous, 6 (OCA6) [MIM:113750]: A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. {ECO:0000269 PubMed:23364476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC24A5 Gene

Relevant External Links for SLC24A5

Genetic Association Database (GAD)
SLC24A5
Human Genome Epidemiology (HuGE) Navigator
SLC24A5
genes like me logo Genes that share disorders with SLC24A5: view

Publications for SLC24A5 Gene

  1. A genomewide association study of skin pigmentation in a South Asian population. (PMID: 17999355) Stokowski R.P. … Cox D.R. (Am. J. Hum. Genet. 2007) 3 4 48
  2. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. (PMID: 16357253) Lamason R.L. … Cheng K.C. (Science 2005) 3 4 23
  3. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A. … Hunt D.F. (J. Proteome Res. 2006) 3 4 23
  4. SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. (PMID: 18166528) Ginger R.S. … Green M.R. (J. Biol. Chem. 2008) 3 4 23
  5. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. (PMID: 23364476) Wei A.H. … Li W. (J. Invest. Dermatol. 2013) 2 3 4

Products for SLC24A5 Gene

Sources for SLC24A5 Gene

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