ENSG00000188467


Homo sapiens

Features
Gene ID: ENSG00000188467
  
Biological name :SLC24A5
  
Synonyms : Q71RS6 / SLC24A5 / solute carrier family 24 member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.1
Gene start: 48120972
Gene end: 48142672
  
Corresponding Affymetrix probe sets: 232672_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000341550
Ensembl peptide - ENSP00000389966
Ensembl peptide - ENSP00000453395
NCBI entrez gene - 283652     See in Manteia.
OMIM - 609802
RefSeq - XM_017022080
RefSeq - NM_205850
RefSeq - XM_017022079
RefSeq Peptide - NP_995322
swissprot - Q71RS6
swissprot - H0YLZ0
Ensembl - ENSG00000188467
  
Related genetic diseases (OMIM): 113750 - Albinism, oculocutaneous, type VI, 113750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc24a5ENSDARG00000024771Danio rerio
 SLC24A5ENSGALG00000004885Gallus gallus
 Q8C261ENSMUSG00000035183Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HC58 / SLC24A3 / solute carrier family 24 member 3ENSG0000018505240
Q8NFF2 / SLC24A4 / solute carrier family 24 member 4ENSG0000014009038
O60721 / SLC24A1 / solute carrier family 24 member 1ENSG0000007462134
Q9UI40 / SLC24A2 / solute carrier family 24 member 2ENSG0000015588634
Q6J4K2 / SLC8B1 / solute carrier family 8 member B1ENSG0000008906021


Protein motifs (from Interpro)
Interpro ID Name
 IPR004481  Sodium/potassium/calcium exchanger
 IPR004837  Sodium/calcium exchanger membrane region
 IPR030245  Sodium/potassium/calcium exchanger 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IBA
 biological_processGO:0034220 ion transmembrane transport IDA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0048021 regulation of melanin biosynthetic process IEA
 biological_processGO:0048022 negative regulation of melanin biosynthetic process IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 cellular_componentGO:0042470 melanosome IEA
 molecular_functionGO:0005262 calcium channel activity IBA
 molecular_functionGO:0005509 calcium ion binding IBA
 molecular_functionGO:0008273 calcium, potassium:sodium antiporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0030955 potassium ion binding IBA
 molecular_functionGO:0031402 sodium ion binding IBA


Pathways (from Reactome)
Pathway description
Sodium/Calcium exchangers
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001595 Hair abnormality 
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 HP:0007663 Decreased central vision 
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 HP:0008034 Abnormal iris pigmentation 
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 HP:0008059 Aplasia/Hypoplasia of the macula 
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 HP:0030613 Abnormal foveal morphology on macular OCT 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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