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
386610002024Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.1
389859912024Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human β-Like Cells and an SLC30A8 Disease Model.0
386610002024Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.1
389859912024Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human β-Like Cells and an SLC30A8 Disease Model.0
357930432023Relationship Between the Single Nucleotide Polymorphism rs11558471 in the SLC30A8/ZnT8 Gene and Cardiometabolic Markers in Postmenopausal Women.0
368278082023Effects of a genetic variant rs13266634 in the zinc transporter 8 gene (SLC30A8) on insulin and lipid levels before and after a high-fat mixed macronutrient tolerance test in U.S. adults.0
369802442023ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.3
371036012023Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis.4
373242672023Association of solute carrier family 30 A8 zinc transporter gene variations with gestational diabetes mellitus risk in a Chinese population.3
377075762023Zinc intake, SLC30A8 rs3802177 polymorphism, and colorectal cancer risk in a Korean population: a case-control study.0
357930432023Relationship Between the Single Nucleotide Polymorphism rs11558471 in the SLC30A8/ZnT8 Gene and Cardiometabolic Markers in Postmenopausal Women.0
368278082023Effects of a genetic variant rs13266634 in the zinc transporter 8 gene (SLC30A8) on insulin and lipid levels before and after a high-fat mixed macronutrient tolerance test in U.S. adults.0
369802442023ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.3
371036012023Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis.4
373242672023Association of solute carrier family 30 A8 zinc transporter gene variations with gestational diabetes mellitus risk in a Chinese population.3

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