2. Gene
  3. SLC39A5 - solute carrier family 39 member 5 Gene

SLC39A5 - solute carrier family 39 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 39 成员 5

种属: Homo sapiens

同用名: ZIP5; MYP24; LZT-Hs7

基因 ID: 283375 | 基因类型: protein coding

关于 SLC39A5

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,230,051-56,237,846 (from NCBI)

This gene has 11 transcripts (splice variants), 161 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in duodenum (RPKM 78.5), small intestine (RPKM 76.3) and 4 other tissues.

功能概要

该基因编码的蛋白质属于锌转运蛋白的 ZIP 家族，可将锌从外部转运到细胞内，在控制细胞内锌水平方面起着至关重要的作用。锌是参与基因转录、生长、发育和分化的许多酶和蛋白质的必需辅助因子。该基因的突变与常染色体显性遗传性高度近视 (MYP24) 有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2014 年 9 月]

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many Enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

SLC39A5 基因产物(2)

mRNA Protein Name
NM_001135195.1 NP_001128667.1 zinc transporter ZIP5 precursor
NM_173596.3 NP_775867.2 zinc transporter ZIP5 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
24891338 GOA
involved in eye development IMP
IMP: 通过突变表型推断
24891338 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

SLC39A5 蛋白结构

Zip

Zip: ZIP Zinc transporter (212 - 526)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 540 a.a.
蛋白主名 其他名称

zinc transporter ZIP5

ZRT/IRT-like protein 5

关联疾病

疾病名称 别名
Myopia 24, Autosomal Dominant

MYP24

Myopia, Type 24, Autosomal Dominant
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Refractive Error

Refractive Errors
Acrodermatitis Enteropathica, Zinc-Deficiency Type

Acrodermatitis Enteropathica

AEZ

Enteropathica

Brandt Syndrome

Ae

Acrodermatitis Enteropathica Zinc Deficiency Type

Danbolt-Cross Syndrome

Acrodermatitis Enteropathica, Zinc Deficiency Type

Inherited Zinc Deficiency

Acrodermatitis Enteropathica, Zinc Deficiency

Danbolt-Closs Syndrome

Primary Zinc Malabsorption Syndrome
Hypermanganesemia With Dystonia 2

HMNDYT2

Dystonia-Parkinsonism-Hypermanganesemia Syndrome

Hypermanganesemia With Dystonia, Type 2
Hypermanganesemia With Dystonia 1

Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis

HMNDYT1

Hmdpc

Hypermanganesemia With Dystonia Polycythemia And Cirrhosis

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease

Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
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-RS13236 SLC39A5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC39A5 VGNC VGNC:82239
Mus musculus SLC39A5 MGD MGI:1919336
Felis catus SLC39A5 VGNC VGNC:65361
Bos taurus SLC39A5 VGNC VGNC:34865
Rattus norvegicus SLC39A5 RGD RGD:1310322
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