SLC39A8 (solute carrier family 39 member 8)

2018-11-01  

Identity

HGNC
LOCATION
4q24
LOCUSID
ALIAS
BIGM103,CDG2N,LZT-Hs6,PP3105,ZIP8
FUSION GENES

Other Information

Locus ID:

NCBI: 64116
MIM: 608732
HGNC: 20862
Ensembl: ENSG00000138821

Variants:

dbSNP: 64116
ClinVar: 64116
TCGA: ENSG00000138821
COSMIC: SLC39A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138821ENST00000356736Q9C0K1
ENSG00000138821ENST00000356736A0A024RDG0
ENSG00000138821ENST00000394833Q9C0K1
ENSG00000138821ENST00000394833A0A024RDG0
ENSG00000138821ENST00000424970Q9C0K1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Metal ion SLC transportersREACTOMER-HSA-425410
Zinc transportersREACTOMER-HSA-435354
Zinc influx into cells by the SLC39 gene familyREACTOMER-HSA-442380
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
228988112012ZIP8 is an iron and zinc transporter whose cell-surface expression is up-regulated by cellular iron loading.98
234032902013ZIP8 regulates host defense through zinc-mediated inhibition of NF-κB.86
194013852009Zinc transporter ZIP8 (SLC39A8) and zinc influence IFN-gamma expression in activated human T cells.75
183908342008The human zinc transporter SLC39A8 (Zip8) is critical in zinc-mediated cytoprotection in lung epithelia.62
266379782015Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.44
260253792015Genome-wide association study of toxic metals and trace elements reveals novel associations.27
236880352013MicroRNA-488 regulates zinc transporter SLC39A8/ZIP8 during pathogenesis of osteoarthritis.25
279953982017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.22
220783032012Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia.21

Citation

Dessen P

SLC39A8 (solute carrier family 39 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57734/slc39a8