SLC24A5 - solute carrier family 24 member 5 Gene

Also Known as JSX; OCA6; NCKX5; SHEP4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283652

About SLC24A5

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:48,120,990-48,142,672 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.4), adrenal (RPKM 4.4) and 23 other tissues.

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 associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]

SLC24A5 Products (1)

mRNA Protein Name
NM_205850.3 NP_995322.1 sodium/potassium/calcium exchanger 5 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables calcium, potassium:sodium antiporter activity IDA
IDA: Inferred from direct assay
18166528 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion import IDA
IDA: Inferred from direct assay
27093457 GOA
acts upstream of or within monoatomic ion transmembrane transport IDA
IDA: Inferred from direct assay
18166528 GOA
Cellular Component GO Annotation Evidence References Source
located in trans-Golgi network IDA
IDA: Inferred from direct assay
18166528 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC24A5 Protein Structure

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (84 - 213)

Na_Ca_ex

Na_Ca_ex: Sodium/calcium exchanger protein (343 - 479)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500 a.a.
Protein Preferred Names Protein Names

sodium/potassium/calcium exchanger 5

  • Na(+)/K(+)/Ca(2+)-exchange protein 5

SLC24A5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SLC24A5 Q71RS6 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
SLC24A5 Q71RS6 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Albinism, Oculocutaneous, Type Vi

  • OCA6

  • Oculocutaneous Albinism Type 6

  • Oculocutaneous Albinism Type Vi

  • Albinism, Oculocutaneous, 6
Oculocutaneous Albinism

  • Albinism, Oculocutaneous

  • Oca

  • Albinism Oculocutaneous

  • Oca - [Oculocutaneous Albinism]
Albinism
Albinism, Oculocutaneous, Type Iv

  • OCA4

  • Oculocutaneous Albinism Type 4

  • Oculocutaneous Albinism, Type Iv

  • Oculocutaneous Albinism Type Iv

  • Albinism, Oculocutaneous, 4
Osteogenesis Imperfecta, Type Xx

  • OI20

  • Osteogenesis Imperfecta Type 20

  • Osteogenesis Imperfecta, Type 20

  • Osteogenesis Imperfecta Type Xx

  • Osteogenesis Imperfecta 20
Albinism, Oculocutaneous, Type Ib

  • OCA1B

  • Oculocutaneous Albinism Type 1b

  • Albinism, Yellow Mutant Type

  • Yellow Albinism

  • Oculocutaneous Albinism Type Ib

  • Temperature-Sensitive Oculocutaneous Albinism Type 1

  • Oculocutaneous Albinism, Type Ib

  • Yellow Mutant Albinism

  • Oca1-Ts

  • Ts Oca Type 1

  • Oculocutaneous Albinism, Amish Type

  • Platinum Oculocutaneous Albinism

  • Yellow Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 1b

  • Albinism Yellow Mutant Type

  • Oca-Ib

  • Oca-Its

  • Oculocutaneous Albinism Type I Temperature-Sensitive

  • Albinism, Oculocutaneous, Type I, Temperature-Sensitive

  • Minimal Pigment Oculocutaneous Albinism
Albinism, Oculocutaneous, Type Iii

  • Rufous Oculocutaneous Albinism

  • Oculocutaneous Albinism Type 3

  • OCA3

  • Roca

  • Xanthism

  • Oculocutaneous Albinism Type Iii

  • Albinism Iii

  • Oculocutaneous Albinism, Type Iii

  • Albinism 3

  • Albinism, Oculocutaneous, Type 3

  • Rufous Oca

  • Red Oculocutaneous Albinism

  • Xanthous Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 3

  • Oca-Iii
Albinism, Oculocutaneous, Type Ii

  • OCA2

  • Oculocutaneous Albinism Type 2

  • Oculocutaneous Albinism Type Ii

  • Albinoidism

  • Tyrosinase-Positive Oculocutaneous Albinism

  • Brown Oculocutaneous Albinism

  • Oculocutaneous Albinism, Tyrosinase-Positive

  • Albinism Ii

  • Albinism, Brown Oculocutaneous

  • Oculocutaneous Albinism, Type Ii, Modifier Of

  • Oculocutaneous Albinism, Type Ii

  • Albinism, Oculocutaneous, Type Ii, Modifier Of

  • Albinism 2

  • Albinism, Oculocutaneous, Type 2

  • Oculocutaneous Albinism Tyrosinase Positive

  • Oculocutaneous Albinism, Tyrosinase Positive

  • Albinism, Oculocutaneous, 2

  • Boca

  • Oca-2

  • Oculocutaneous Albinism Tyrosinase-Positive
Amelogenesis Imperfecta

  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]
Ocular Albinism

  • Albinism, Ocular

  • Oa

  • Xloa

  • Albinism Ocular
Strabismus

  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1
Hermansky-Pudlak Syndrome 1

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • HPS1

  • Delta Storage Pool Disease

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Hermansky-Pudlak Syndrome, Type 1

  • Platelet Storage Pool Deficiency
Hermansky-Pudlak Syndrome

  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13088 SLC24A5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SLC24A5 RGD RGD:1310565
Felis catus SLC24A5 VGNC VGNC:65252
Canis familiaris SLC24A5 VGNC VGNC:46289
Macaca mulatta SLC24A5 VGNC VGNC:77529
Bos taurus SLC24A5 VGNC VGNC:34740
Mus musculus SLC24A5 MGD MGI:2677271