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FLASH GENE

Symbol

SLC30A8

contributors: /mct - updated : 14-04-2006

HGNC name	solute carrier family 30 (zinc transporter), member 8
HGNC id	20303

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q24.11      Physical location : 117.962.511 - 118.188.952
Synonym name	zinc transporter ZnT-8
Synonym symbol(s)	ZnT-8

DNA

TYPE	functioning gene
STRUCTURE	41.62 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001172811 - - 5316 NP_001166282 35 320 - - NM_001172813 - - 5561 NP_001166284 35 320 - - NM_001172814 - - 5403 NP_001166285 35 320 - - NM_001172815 - - 5430 NP_001166286 35 320 - - NM_173851 8 - 5373 NP_776250 40.6 369 - -

EXPRESSION

Type

constitutive of

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 Endocrine pancreas       specific Nervous brain diencephalon hypothalamus       brain forebrain cerebral cortex     Reproductive male system testis       Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Reproductive spermatid Reproductive spermatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six transmembrane domains
	a histidine-rich loop between transmembrane domains IV and V

HOMOLOGY

Homologene

FAMILY	cation diffusion facilitator (CDF) transporter family
	SLC30A subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic,vesicle
text	in synaptic vesicles and in secretion vesicles membrane

basic FUNCTION	involved in accumulation of zinc in synaptic vesicles
	facilitating the accumulation of zinc from the cytoplasm into intracellular insulin-containing vesicles
	involved in insulin maturation, storage and secretion (Cauchi 2010)
	role in pancreatic islets (is particularly required for the normal accumulation of zinc in beta-cell granules) (Cauchi 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to type 2 diabetes

Variant & Polymorphism other	SLC30A8 rs13266634 polymorphism is among the most replicated genetic markers of T2D in Europeans and East Asian (Cauchi 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS