SLC39A8 - solute carrier family 39 member 8 Gene

中文名称：溶质载体家族 39 成员 8

种属: Homo sapiens

同用名: ZIP8; CDG2N; PP3105; BIGM103; LZT-Hs6

基因 ID: 64116 | 基因类型: protein coding

关于 SLC39A8

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:102,251,041-102,345,482 (from NCBI)

This gene has 22 transcripts (splice variants), 207 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 46.9), colon (RPKM 11.2) and 13 other tissues.

功能概要

该基因编码溶质载体基因 SLC39 家族的一个成员，该基因显示出锌转运体的结构特征。编码的蛋白质被糖基化并存在于质膜和线粒体中，并在炎症开始时参与锌的细胞输入。它也被认为是在香烟烟雾中发现的有毒阳离子镉的主要转运体。已发现该基因编码不同异构体的多个转录变体。已经描述了该基因的其他可变剪接转录变体，但它们的全长性质尚不清楚。[RefSeq 提供，2008 年 10 月]

This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]

SLC39A8 基因产物(4)

mRNA	Protein	Name
NM_001135146.2	NP_001128618.1	metal cation symporter ZIP8 isoform a precursor
NM_001135147.1	NP_001128619.1	metal cation symporter ZIP8 isoform b precursor
NM_001135148.2	NP_001128620.1	metal cation symporter ZIP8 isoform c
NM_022154.5	NP_071437.3	metal cation symporter ZIP8 isoform a 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 monoatomic cation:bicarbonate symporter activity	IDA IDA: 通过直接分析推断	22898811	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cadmium ion transmembrane transport	IDA IDA: 通过直接分析推断	27466201	GOA
involved in cellular detoxification of cadmium ion	IMP IMP: 通过突变表型推断	27466201	GOA
acts upstream of extracellular matrix organization	IMP IMP: 通过突变表型推断	29337306	GOA
involved in intracellular zinc ion homeostasis	IDA IDA: 通过直接分析推断	19401385	GOA
involved in iron ion import across plasma membrane	IDA IDA: 通过直接分析推断	22898811	GOA
involved in manganese ion transmembrane transport	IMP IMP: 通过突变表型推断	28481222	GOA
involved in mitochondrial manganese ion transmembrane transport	IMP IMP: 通过突变表型推断	29453449	GOA
acts upstream of negative effect negative regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	23403290	GOA
acts upstream of negative effect negative regulation of inflammatory response	IMP IMP: 通过突变表型推断	23403290	GOA
involved in plasma membrane selenite transport	IDA IDA: 通过直接分析推断	27166256	GOA
acts upstream of regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	29337306	GOA
involved in regulation of membrane potential	IMP IMP: 通过突变表型推断	18390834	GOA
involved in zinc ion import across plasma membrane	IMP IMP: 通过突变表型推断	23403290	GOA
involved in zinc ion transmembrane transport	IDA IDA: 通过直接分析推断	19401385	GOA
involved in zinc ion transmembrane transport	IMP IMP: 通过突变表型推断	18390834	GOA
involved in zinc ion transport	IMP IMP: 通过突变表型推断	12504855	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	31699897	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	31699897	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	18390834	GOA
located in organelle membrane	IDA IDA: 通过直接分析推断	12504855	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	18390834	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

SLC39A8 蛋白结构

Zip

0
100
200
300
400
460 a.a.

蛋白主名

其他名称

metal cation symporter ZIP8

BCG induced integral membrane protein BIGM103

关联疾病

疾病名称

别名

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Hypermanganesemia With Dystonia 2

HMNDYT2	Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia With Dystonia, Type 2

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

Scoliosis

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds
EDSSPD3	Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Slc39a13-Related Speds	Slc39a13-Related Spondylodysplastic Eds
Spondylocheirodysplastic Ehlers-Danlos Syndrome	Speds-Slc39a13
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia	Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS16232	Slc39a8 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13239	SLC39A8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	SLC39A8	VGNC	VGNC:46407
Macaca mulatta	SLC39A8	VGNC	VGNC:77541
Mus musculus	SLC39A8	MGD	MGI:1914797
Rattus norvegicus	SLC39A8	RGD	RGD:1308236
Bos taurus	SLC39A8	VGNC	VGNC:34868
Felis catus	SLC39A8	VGNC	VGNC:65363

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SLC39A8 - solute carrier family 39 member 8 Gene

关于 SLC39A8

功能概要

SLC39A8 基因产物(4)

SLC39A8 蛋白结构

关联疾病

直系同源

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SLC39A8 - solute carrier family 39 member 8 Gene

关于 SLC39A8

功能概要

SLC39A8 基因产物(4)

SLC39A8 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z