Property Summary

NCBI Gene PubMed Count 27
Grant Count 25
R01 Count 19
Funding $3,280,174.63
PubMed Score 56.46
PubTator Score 26.29

Knowledge Summary

Patent

No data available

Expression

Gene RIF (14)

PMID Text
26637978 Autosomal-recessive intellectual disability with cerebellar atrophy syndrome is caused by mutation of the manganese and zinc transporter gene SLC39A8.
26025379 The lead single nucleotide polymorphism (SNP) in the 4q24 locus was rs13107325 (P-value = 5.1 x 10(-11), beta = -0.77), located in an exon of SLC39A8, which encodes a protein involved in manganese and zinc transport.
26006263 data provide evidence of positive selection on a schizophrenia risk SNP rs13107325 in the SLC39A8 gene, and we propose a hypothesis about the relationship among positive selection of host alleles, schizophrenia, hypertension, energy intake, and the unique history of Europeans.
24514587 Polymorphisms in SLC39A14 and SLC39A8 seemed to affect blood cadmium concentrations, for SLC39A14 this effect may occur via differential gene expression.
23921484 Data indicate that the average expression level of zinc transporter Zip2 was significantly higher and zinc transporters Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls.
23688035 MicroRNA-488 regulates zinc transporter SLC39A8/ZIP8 during pathogenesis of osteoarthritis
23403290 The zinc transporter SLC39A8 (ZIP8) is a transcriptional target of NF-kappaB and functions to negatively regulate proinflammatory responses through zinc-mediated down-modulation of IkappaB kinase (IKK) activity in vitro.
22898811 data identify ZIP8 as an iron transport protein that may function in iron metabolism.
22078303 findings reveal a role for brain metal homeostasis in psychosis.
20864672 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLH      1 - 70
FNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIIN     71 - 140
LASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLF    141 - 210
FFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQ    211 - 280
DGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGLAIGASCTLSLLQGLSTSIAILCEEFPHELG    281 - 350
DFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLR    351 - 420
EKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE                                  421 - 460
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Text Mined References (31)

PMID Year Title
26637979 2015 SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
26637978 2015 Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
26025379 2015 Genome-wide association study of toxic metals and trace elements reveals novel associations.
26006263 2016 Recent Positive Selection Drives the Expansion of a Schizophrenia Risk Nonsynonymous Variant at SLC39A8 in Europeans.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24514587 2014 Cadmium concentrations in human blood and urine are associated with polymorphisms in zinc transporter genes.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23921484 2013 Zip1, Zip2, and Zip8 mRNA expressions were associated with growth hormone level during the growth hormone provocation test in children with short stature.
23688035 2013 MicroRNA-488 regulates zinc transporter SLC39A8/ZIP8 during pathogenesis of osteoarthritis.
23403290 2013 ZIP8 regulates host defense through zinc-mediated inhibition of NF-?B.
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