SLC24A5 (solute carrier family 24 member 5)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 283652
Gene name Solute carrier family 24 member 5
Gene symbol SLC24A5
Synonyms (NCBI Gene)
JSXNCKX5OCA6SHEP4
Chromosome 15
Chromosome location 15q21.1
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IBA
GO:0005802 Component Trans-Golgi network IDA 18166528
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609802 20611 ENSG00000188467
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q71RS6
Protein name Sodium/potassium/calcium exchanger 5 (Na(+)/K(+)/Ca(2+)-exchange protein 5) (Solute carrier family 24 member 5)
Protein function Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:1635725
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01699 Na_Ca_ex 71 → 216 Sodium/calcium exchanger protein Family
PF01699 Na_Ca_ex 333 → 484 Sodium/calcium exchanger protein Family
Sequence 
MQTKGGQTWARRALLLGILWATAHLPLSGTSLPQRLPRATGNSTQCVISPSSEFPEGFFT
RQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSA
PELVTAFLGVFITKGDIGISTILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYT
ISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYIIKKCSPCCACLAKAME
RSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSISLHGLSQVSEDPPSVFNMPE
ADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITG
ETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLCLGIPWFI
KTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLAT
LSVLYELGIIGNNKIRGCGG
Sequence length 500
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Sodium/Calcium exchangers
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Oculocutaneous albinism Likely pathogenic rs1450652793 RCV000826128
Oculocutaneous albinism type 6 Pathogenic; Likely pathogenic rs2504597755, rs2038684395, rs1555452574, rs772398324, rs1555452572, rs886037643, rs886037644 RCV003129571
RCV003889360
RCV000500925
RCV000508792
RCV000508896
RCV000054447
RCV000054448
Skin/hair/eye pigmentation, variation in, 4 Pathogenic rs977118193 RCV000851387
SLC24A5-related disorder Pathogenic rs772398324 RCV004758029
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Uterine corpus endometrial carcinoma Uncertain significance rs373895181 RCV005924087
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 32966289, 35488210
Albinism Ocular Associate 30679655
Albinism Oculocutaneous Associate 22734612, 27129268, 30679655, 31077556
Carcinoma Squamous Cell Associate 33318654
Color Vision Defects Associate 23555287
Medulloblastoma Associate 28683437
Melanoma Associate 32966289, 33167923
Melanoma Amelanotic Associate 32966289
Melanosis Associate 39940926
Oculocutaneous albinism type 1 Associate 31077556