SLC30A8 (solute carrier family 30 member 8)

2014-11-01  

Identity

HGNC
SLC30A8
LOCATION
8q24.11
LOCUSID
169026
ALIAS
ZNT8,ZnT-8

Other Information

Locus ID:

NCBI: 169026
MIM: 611145
HGNC: 20303
Ensembl: ENSG00000164756

Variants:

dbSNP: 169026
ClinVar: 169026
TCGA: ENSG00000164756
COSMIC: SLC30A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164756ENST00000427715Q8IWU4
ENSG00000164756ENST00000456015Q8IWU4
ENSG00000164756ENST00000518396A0A096LNR0
ENSG00000164756ENST00000518521A0A096LPF3
ENSG00000164756ENST00000519688Q8IWU4
ENSG00000164756ENST00000521243Q8IWU4
ENSG00000164756ENST00000524274E5RG87

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876
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 efflux and compartmentalization by the SLC30 familyREACTOMER-HSA-435368

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164744571insulin recombinantChemicalClinicalAnnotationassociatedPD
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotation, MultilinkAnnotationassociatedPD20809084, 24471563
PA451234repaglinideChemicalClinicalAnnotationassociatedPD20809084
PA451961zinc acetateChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
174632462007Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.1137
174632482007A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.1102
172938762007A genome-wide association study identifies novel risk loci for type 2 diabetes.990
172938762007A genome-wide association study identifies novel risk loci for type 2 diabetes.990
174632492007Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.887
190203232008Genotype score in addition to common risk factors for prediction of type 2 diabetes.304
179426842007The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes.283
190203242008Clinical risk factors, DNA variants, and the development of type 2 diabetes.262
245840712014Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.164
195422002009Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants.141

Citation

Dessen P

SLC30A8 (solute carrier family 30 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73392/slc30a8