SLC39A4 - solute carrier family 39 member 4 Gene

Homo sapiens

Also known as AEZ; ZIP4; AWMS2

Gene ID: 55630 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	30874431	GOA
enables metal ion binding	EXP EXP: Inferred from Experiment	30793391	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	25882556	GOA
enables zinc ion sensor activity	IMP IMP: Inferred from mutant phenotype	32348750	GOA
enables zinc ion sequestering activity	EXP EXP: Inferred from Experiment	30793391	GOA
enables zinc ion sequestering activity	IMP IMP: Inferred from mutant phenotype	25882556	GOA
enables zinc ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	22242765	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in zinc ion transmembrane transport	IDA IDA: Inferred from direct assay	31164399	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	14612438	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	14612438	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	14612438	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

SLC39A4 Protein Structure

Zip

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

Protein Preferred Names

Protein Names

zinc transporter ZIP4

ZRT/IRT-like protein 4

Related Diseases

Diseases

Alias

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]

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13235	SLC39A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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