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 name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 24 member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC24A5
Synonyms (NCBI Gene) Gene synonyms aliases
JSX, NCKX5, OCA6, SHEP4
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
Summary Summary 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
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609802 20611 ENSG00000188467
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
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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Oculocutaneous albinism oculocutaneous albinism type 6 rs1555452572, rs886037643, rs886037644, rs1555452574, rs772398324 N/A
oculocutaneous albinism Oculocutaneous albinism rs1450652793 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glaucoma Glaucoma N/A N/A GWAS
Hypertension ICD10 127.0 pulmonary arterial hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease 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