2. Gene
  3. SLC24A5 - solute carrier family 24 member 5 Gene

SLC24A5 - solute carrier family 24 member 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 24 成员 5

种属: Homo sapiens

同用名: JSX; OCA6; NCKX5; SHEP4

基因 ID: 283652 | 基因类型: protein coding

关于 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.

功能概要

该基因是钾依赖性钠/钙交换器家族的成员，编码具有 2 个大亲水环和 2 组多个跨膜片段的细胞内膜蛋白。该基因的序列变异与皮肤色素沉着的差异有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_205850.3 NP_995322.1 sodium/potassium/calcium exchanger 5 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium, potassium:sodium antiporter activity IDA
IDA: 通过直接分析推断
18166528 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion import IDA
IDA: 通过直接分析推断
27093457 GOA
acts upstream of or within monoatomic ion transmembrane transport IDA
IDA: 通过直接分析推断
18166528 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in trans-Golgi network IDA
IDA: 通过直接分析推断
18166528 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC24A5 蛋白结构

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.
蛋白主名 其他名称

sodium/potassium/calcium exchanger 5

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

SLC24A5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC24A5 Q71RS6 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
SLC24A5 Q71RS6 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13088 SLC24A5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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