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SLC24A5 (solute carrier family 24 member 5)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283652
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 24 member 5
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC24A5
SynonymsGene synonyms aliases
JSX, NCKX5, OCA6, SHEP4
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
SummarySummary of gene provided in NCBI Entrez 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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005802 Component Trans-Golgi network IBA 21873635
GO:0005802 Component Trans-Golgi network IDA 18166528
GO:0006811 Process Ion transport TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Sodium/Calcium exchangers
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculocutaneous albinism Albinism, Oculocutaneous, Oculocutaneous albinism type 6, ALBINISM, OCULOCUTANEOUS, TYPE VI rs387906240, rs121918167, rs121918169, rs121918170, rs28940876, rs104894314, rs61754388, rs61753185, rs104894313, rs61754393, rs28940879, rs61753178, rs61753180, rs61754375, rs61754387, rs104894316, rs104894317, rs61754399, rs28940881, rs730880270, rs387906317, rs387906318, rs121912621, rs730880271, rs387906560, rs104894130, rs121912778, rs387906561, rs387906562, rs587776952, rs587776953, rs886037643, rs886037644, rs61754381, rs62645914, rs61753254, rs61754365, rs62645902, rs759411189, rs878854351, rs797045970, rs763819379, rs144812594, rs775387808, rs373775562, rs116887602, rs1057518192, rs1057518722, rs540911439, rs772595552, rs1294369944, rs562624441, rs140365820, rs141949212, rs1555452574, rs772398324, rs1555452572, rs1482829698, rs146802593, rs202120684, rs1031268531, rs748901196, rs773970123, rs1579564717, rs147736385, rs1450652793, rs1289685376, rs1595660890, rs1312967591, rs1753106609 23364476, 23985994, 23364476, 26686029
Unknown
Disease name Disease term dbSNP ID References
Disorder of eye Disorder of eye

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