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FLASH GENE

Symbol

SLC39A8

contributors: mct - updated : 26-09-2015

HGNC name	solute carrier family 39 (zinc transporter), member 8
HGNC id	20862

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG2N congenital disorder of glycosylation, type II N
Location	4q24      Physical location : 103.172.197 - 103.266.655
Synonym name	BCG-induced gene in monocytes, clone 103
	LIV-1 subfamily of ZIP zinc transporter 6
	Zrt- and Irt-like protein 8
Synonym symbol(s)	BIGM103, LZT-Hs6, PP3105, ZIP8

DNA

TYPE	functioning gene
STRUCTURE	94.46 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001135147 11 - 4098 NP_001128619 - 444 - 2008 18270315 NM_001135146 9 - 3187 NP_001128618 - 460 - 2008 18270315 NM_022154 8 - 3309 NP_071437 - 460 - 2008 18270315 NM_001135148 8 - 2624 NP_001128620 - 393 - 2008 18270315

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea     Rattus norvegicus Reproductive female system placenta     highly Homo sapiens   male system testis     predominantly Mus musculus Respiratory lung       highly Homo sapiens Urinary kidney       predominantly Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory olfactory

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Lymphoid/Immune T cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four membrane spanning domain at the C terminus

HOMOLOGY

interspecies

homolog to murine Slc39a8

Homologene

FAMILY	ZIP family of metal-ion transporters
	KE4/catsup subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	is localized to the lysosome where SLC39A8 abundance is increased upon activation
	localized to the plasma membrane and partially in early endosomes
	localizes mainly to the cell-surface membrane, but also to lysosomal and mitochondrial membranes

basic FUNCTION	would be involved in heavy metal ion transport
	negatively regulating tyrosine hydroxylase activity and acting as membrane metalloprotease
	like SLC39A8, SLC39A14 proteins are glycosylated
	is unique, relative to other Zip proteins, by functioning as an essential zinc importer at the onset of inflammation, thereby facilitating cytoprotection within the lung
	SLC39A8, through control of zinc transport from the lysosome, may provide a secondary level of IFN-gamma regulation in T cells
	involved in the control of intracellular zinc homoeostasis
	important zinc transporter involved in cellular cadmium incorporation
	epigenetic silencing of the SLC39A8 gene by DNA hypermethylation plays an important role in the down-regulation of SLC39A8 in cadmium-resistant metallothionein-null cells
	SLC39A8-mediated zinc transport plays an unappreciated critical role during in utero and neonatal growth, organ morphogenesis, and hematopoiesis
	participates likely in placental iron transport, and is an iron transport protein that may function in iron metabolism
	zinc-SLC39A8-MTF1 axis is an essential catabolic regulator of osteoarthritis pathogenesis
	is a membrane transporter responsible for manganese uptake into the cell
	appears to be more important for manganese than zinc homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

is a transcriptional target of NFKB1 and functions to negatively regulate proinflammatory responses through zinc-mediated down-modulation of IKBKB activity

cell & other

REGULATION

induced by

TNF (SLC39A8 mRNA was strongly induced by TNF)

ASSOCIATED DISORDERS

corresponding disease(s)

CDG2N

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   mRNA levels were significantly lower in short stature children than in health controls constitutional       gain of function is sufficient to protect lung epithelia against TNF-induced cytotoxicity

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS