SLC39A8 - solute carrier family 39 member 8 Gene

Homo sapiens

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

Gene ID: 64116 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13239	SLC39A8 Human Pre-designed siRNA Set A		/	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

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