Gene Gene information from NCBI Gene database.
Entrez ID 169026
Gene name Solute carrier family 30 member 8
Gene symbol SLC30A8
Synonyms (NCBI Gene)
ZNT8ZnT-8
Chromosome 8
Chromosome location 8q24.11
Summary The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalize
miRNA miRNA information provided by mirtarbase database.
175
miRTarBase ID miRNA Experiments Reference
MIRT1359590 hsa-miR-140-3p CLIP-seq
MIRT1359591 hsa-miR-146b-3p CLIP-seq
MIRT1359592 hsa-miR-3157-3p CLIP-seq
MIRT1359593 hsa-miR-3173-5p CLIP-seq
MIRT1359594 hsa-miR-320a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005385 Function Zinc ion transmembrane transporter activity IBA
GO:0005385 Function Zinc ion transmembrane transporter activity IDA 15331542
GO:0005385 Function Zinc ion transmembrane transporter activity IEA
GO:0005385 Function Zinc ion transmembrane transporter activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611145 20303 ENSG00000164756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWU4
Protein name Proton-coupled zinc antiporter SLC30A8 (Solute carrier family 30 member 8) (Zinc transporter 8) (ZnT-8)
Protein function Proton-coupled zinc ion antiporter mediating the entry of zinc into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion. {ECO:0000269|PubMed:15331542, ECO:0000269|PubMed:16984975, ECO:0000269|PubMed:2787531
PDB 6XPD , 6XPE , 6XPF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01545 Cation_efflux 74 275 Cation efflux family Family
Tissue specificity TISSUE SPECIFICITY: In the endocrine pancreas, expressed in insulin-producing beta cells. Expressed at relatively high levels in subcutaneous fat tissue from lean persons; much lower levels in visceral fat, whether from lean or obese individuals, and in s
Sequence
MEFLERTYLVNDKAAKMYAFTLESVELQQKPVNKDQCPRERPEELESGGMYHCHSGSKPT
EKGANEYAYAKWKLCSASAICFIFMIAEVVGGHIAGSLAVVTDAAHLLIDLTSFLLSLFS
LWLSSKPPSKRLTFGWHRAEILGALLSILCIWVVTGVLVYLACERLLYPDYQIQATVMII
VSSCAVAANIVLTVVLHQRCLGHNHKEVQANASVRAAFVHALGDLFQSISVLISALIIYF
KPEYKIADPICTFIFSILVLASTITILKDFSILLM
EGVPKSLNYSGVKELILAVDGVLSV
HSLHIWSLTMNQVILSAHVATAASRDSQVVRREIAKALSKSFTMHSLTIQMESPVDQDPD
CLFCEDPCD
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Insulin processing
Zinc efflux and compartmentalization by the SLC30 family
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diabetes mellitus type 2, susceptibility to Benign; risk factor rs13266634 RCV000001055
SLC30A8-related disorder Benign; risk factor; Likely benign rs13266634, rs16889462, rs555484215, rs73317647 RCV003974786
RCV003921881
RCV003903882
RCV003914157
Type 2 diabetes mellitus protective; Uncertain significance rs200185429, rs587777582, rs2537141678 RCV000129930
RCV000129931
RCV003988671
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Addison Disease Associate 26972575
Adenocarcinoma of Lung Associate 28181565
Adenoma Islet Cell Stimulate 32686271, 37043275
Aortic Aneurysm Abdominal Inhibit 24423473
Aortic Aneurysm Abdominal Associate 24423473
Autoimmune Diseases Associate 26972575
Breast Neoplasms Associate 23884293, 30457165
Colorectal Neoplasms Associate 37365285
Cystic Fibrosis Associate 23535193
Diabetes Gestational Associate 27600066, 28363002, 29947923, 34928995