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SLC39A8 - solute carrier family 39 member 8 Gene

Also Known as ZIP8; CDG2N; PP3105; BIGM103; LZT-Hs6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64116

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables monoatomic cation:bicarbonate symporter activity	IDA IDA: Inferred from direct assay	22898811	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cadmium ion transmembrane transport	IDA IDA: Inferred from direct assay	27466201	GOA
involved in cellular detoxification of cadmium ion	IMP IMP: Inferred from mutant phenotype	27466201	GOA
acts upstream of extracellular matrix organization	IMP IMP: Inferred from mutant phenotype	29337306	GOA
involved in intracellular zinc ion homeostasis	IDA IDA: Inferred from direct assay	19401385	GOA
involved in iron ion import across plasma membrane	IDA IDA: Inferred from direct assay	22898811	GOA
involved in manganese ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	28481222	GOA
involved in mitochondrial manganese ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	29453449	GOA
acts upstream of negative effect negative regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23403290	GOA
acts upstream of negative effect negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	23403290	GOA
involved in plasma membrane selenite transport	IDA IDA: Inferred from direct assay	27166256	GOA
acts upstream of regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	29337306	GOA
involved in regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	18390834	GOA
involved in zinc ion import across plasma membrane	IMP IMP: Inferred from mutant phenotype	23403290	GOA
involved in zinc ion transmembrane transport	IDA IDA: Inferred from direct assay	19401385	GOA
involved in zinc ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	18390834	GOA
involved in zinc ion transport	IMP IMP: Inferred from mutant phenotype	12504855	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	31699897	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	31699897	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	18390834	GOA
located in organelle membrane	IDA IDA: Inferred from direct assay	12504855	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18390834	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

SLC39A8 Protein Structure

Zip

0
100
200
300
400
460 a.a.

Protein Preferred Names	Protein Names
metal cation symporter ZIP8	BCG induced integral membrane protein BIGM103

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-179571	ZIP14-IN-1	Inhibitor	99.82%	Unkown
HY-RS13239	SLC39A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16232	Slc39a8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28561	Slc39a8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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