SLC39A4 - solute carrier family 39 member 4 Gene

中文名称：溶质载体家族 39 成员 4

种属: Homo sapiens

同用名: AEZ; ZIP4; AWMS2

基因 ID: 55630 | 基因类型: protein coding

关于 SLC39A4

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,412,414-144,416,844 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 208 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in duodenum (RPKM 47.9), small intestine (RPKM 33.9) and 3 other tissues.

功能概要

该基因编码锌/铁调节的转运蛋白样蛋白 (ZIP) 家族的成员。编码的蛋白质定位于细胞膜，是肠道吸收锌所必需的。该基因的突变导致肠病性肢端皮炎。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

SLC39A4 基因产物(4)

mRNA	Protein	Name
NM_001280557.2	NP_001267486.1	zinc transporter ZIP4 isoform 3
NM_001374839.1	NP_001361768.1	zinc transporter ZIP4 isoform 4 precursor
NM_017767.3	NP_060237.3	zinc transporter ZIP4 isoform 1
NM_130849.4	NP_570901.3	zinc transporter ZIP4 isoform 2 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 identical protein binding	IDA IDA: 通过直接分析推断	30874431	GOA
enables metal ion binding	EXP EXP: 通过实验结果推断	30793391	GOA
enables zinc ion binding	IMP IMP: 通过突变表型推断	25882556	GOA
enables zinc ion sensor activity	IMP IMP: 通过突变表型推断	32348750	GOA
enables zinc ion sequestering activity	EXP EXP: 通过实验结果推断	30793391	GOA
enables zinc ion sequestering activity	IMP IMP: 通过突变表型推断	25882556	GOA
enables zinc ion transmembrane transporter activity	IDA IDA: 通过直接分析推断	22242765	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in zinc ion transmembrane transport	IDA IDA: 通过直接分析推断	31164399	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	14612438	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	14612438	GOA
located in recycling endosome membrane	IDA IDA: 通过直接分析推断	14612438	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

SLC39A4 蛋白结构

Zip

0
100
200
300
400
500
600
647 a.a.

蛋白主名

其他名称

zinc transporter ZIP4

ZRT/IRT-like protein 4

关联疾病

疾病名称

别名

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

Acrodermatitis

Alopecia

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Hypermanganesemia With Dystonia

Familial Manganese-Induced Neurotoxicity

Hmndyt

Angular Cheilitis

Cheilosis	Angular Cheilosis
Angular Stomatitis	Commissural Cheilitis

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13235	SLC39A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	SLC39A4	MGD	MGI:1919277
Canis familiaris	SLC39A4	VGNC	VGNC:46404
Bos taurus	SLC39A4	VGNC	VGNC:34864
Felis catus	SLC39A4	VGNC	VGNC:65360
Rattus norvegicus	SLC39A4	RGD	RGD:1306701
Macaca mulatta	SLC39A4	VGNC	VGNC:77497

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