Slc30a8 solute carrier family 30 (zinc transporter), member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc30a8provided by MGI
Official Full Name: solute carrier family 30 (zinc transporter), member 8provided by MGI
Primary source: MGI:MGI:2442682
See related: Ensembl:ENSMUSG00000022315 AllianceGenome:MGI:2442682
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ZnT8; ZnT-8; C820002P14Rik
Summary: Enables protein homodimerization activity and zinc ion transmembrane transporter activity. Involved in several processes, including insulin processing; insulin secretion; and intracellular zinc ion homeostasis. Located in cytoplasmic vesicle. Is active in secretory granule membrane. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human SLC30A8 (solute carrier family 30 member 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 15 C; 15 19.88 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (52158949..52199194)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (52295553..52335798)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of an SLC30A8 loss-of-function variant on the pancreatic distribution of zinc and manganese: laser ablation-ICP-MS and positron emission tomography studies in mice.
Title: Impact of an SLC30A8 loss-of-function variant on the pancreatic distribution of zinc and manganese: laser ablation-ICP-MS and positron emission tomography studies in mice.
ZnT8 Exerts Anti-apoptosis of Kidney Tubular Epithelial Cell in Diabetic Kidney Disease Through TNFAIP3-NF-kappaB Signal Pathways.
Title: ZnT8 Exerts Anti-apoptosis of Kidney Tubular Epithelial Cell in Diabetic Kidney Disease Through TNFAIP3-NF-κB Signal Pathways.
Zinc transporter 8 haploinsufficiency protects against beta cell dysfunction in type 1 diabetes by increasing mitochondrial respiration.
Title: Zinc transporter 8 haploinsufficiency protects against beta cell dysfunction in type 1 diabetes by increasing mitochondrial respiration.
Lack of ZnT8 protects pancreatic islets from hypoxia- and cytokine-induced cell death.
Title: Lack of ZnT8 protects pancreatic islets from hypoxia- and cytokine-induced cell death.
Effects of ZnT8 on epithelial-to-mesenchymal transition and tubulointerstitial fibrosis in diabetic kidney disease.
Title: Effects of ZnT8 on epithelial-to-mesenchymal transition and tubulointerstitial fibrosis in diabetic kidney disease.
ZnT8 haploinsufficiency is associated with downregulation of mRNAs for Slc39a8 and Slc39a14 and with lowered total cellular zinc content in MIN6 cells.
Title: ZnT8 Haploinsufficiency Impacts MIN6 Cell Zinc Content and β-Cell Phenotype via ZIP-ZnT8 Coregulation.
Study revealed an unexpected role of ZnT8 in regulating peripheral 5-HT biogenesis and intestinal microenvironment, which might contribute to the increased risk of obesity and type 2 diabetes.
Title: Deficiency of ZnT8 Promotes Adiposity and Metabolic Dysfunction by Increasing Peripheral Serotonin Production.
provided the first evidence that ZnT8 transports Zn into Leydig cell mitochondria with gonadotropin stimulation and suggests that ZnT8 may play a role in testosterone production via the PKA signaling pathway
Title: A novel role for zinc transporter 8 in the facilitation of zinc accumulation and regulation of testosterone synthesis in Leydig cells of human and mouse testicles.
Zinc Transporter 8 (ZnT8) shRNA attenuates specific CD8+ T cell activation and cytotoxicity. ZnT8 shRNA protects glucose tolerance and pancreatic tissue injury via down-regulation of ZnT8 in NOD mice.
Title: Gene silencing of ZnT8 attenuates inflammation and protects pancreatic tissue injury in T1D.
Knockin mouse model suggests that the SLC30A8 R138X loss-of-function mutation may exert beneficial effects on glucose metabolism by increasing the capacity of beta-cells to secrete insulin under hyperglycemic conditions.
Title: Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (7) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493324

d7rat141 (e-PCR)
- UniSTS:122325

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables zinc ion transmembrane transporter activity	TAS Traceable Author Statement more info
enables zinc:proton antiporter activity	ISO Inferred from Sequence Orthology more info
enables zinc:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
NOT involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in intracellular zinc ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular zinc ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in response to glucose	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to glucose	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in zinc ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in zinc ion import into organelle	ISO Inferred from Sequence Orthology more info
involved_in zinc ion import into organelle	ISS Inferred from Sequence or Structural Similarity more info
involved_in zinc ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	ISO Inferred from Sequence Orthology more info
is_active_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	ISO Inferred from Sequence Orthology more info
located_in secretory granule membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proton-coupled zinc antiporter SLC30A8

Names: zinc transporter 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172816.4 → NP_766404.1 proton-coupled zinc antiporter SLC30A8

Status: VALIDATED

Source sequence(s)

AC127562

Consensus CDS

CCDS27464.1

UniProtKB/Swiss-Prot

Q8BGG0

Related

ENSMUSP00000035257.3, ENSMUST00000037240.3

Conserved Domains (2) summary

TIGR01297
Location:82 → 352

CDF; cation diffusion facilitator family transporter

pfam01545
Location:82 → 273

Cation_efflux; Cation efflux family