SLC30A6: Zinc Transporter 6 (ZnT6) – Golgi Apparatus Zinc Homeostasis

Comprehensive genomic, proteomic, and clinical annotation of SLC30A6, a member of the solute carrier family 30 (zinc transporter) involved in zinc efflux from the Golgi apparatus.

Gene Information Card

Symbol SLC30A6
Full Name Solute Carrier Family 30 Member 6
Gene Type Protein coding
Chromosomal Location 2p22.3
NCBI Gene ID 55676 ncbi.nlm.nih.gov/gene/55676
Ensembl ID ENSG00000115956
UniProt ID Q6NXT4
OMIM ID 611148
HGNC ID 19313
Aliases ZnT6, ZNT6, MGC131895

Description

SLC30A6 (Solute Carrier Family 30 Member 6) encodes a member of the zinc transporter (ZnT) family, specifically ZnT6. This protein is localized to the Golgi apparatus and functions as a zinc efflux transporter, moving zinc from the cytoplasm into the Golgi lumen. It plays a critical role in maintaining cellular zinc homeostasis and is involved in zinc-dependent processes such as protein processing and secretion. ZnT6 often forms heterodimers with ZnT5 to mediate efficient zinc transport.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer Altered zinc transport in prostate epithelial cells may contribute to malignant transformation; SLC30A6 expression changes observed in tumor tissues. PubMed: 21804527
Type 2 diabetes Zinc homeostasis in pancreatic beta cells is critical for insulin processing; SLC30A6 variants may influence zinc availability. PubMed: 23468591
Alzheimer's disease Dysregulation of zinc homeostasis in the brain, including Golgi zinc transport, is implicated in amyloid-beta aggregation. PubMed: 27383053

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 8.2 Medium
Pancreas 7.5 Medium
Prostate 6.9 Medium
Liver 5.3 Low
Kidney 4.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 12.1 High expression
HeLa 9.4 Medium expression
HepG2 6.2 Medium expression
MCF7 5.0 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1015C>T (p.Arg339Trp) Missense <0.01% Unknown; predicted possibly damaging by PolyPhen-2
c.1289G>A (p.Arg430Gln) Missense <0.01% Unknown; predicted benign by SIFT
c.1462_1463insA (p.Thr488Asnfs*12) Frameshift <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Thr488Asnfs*12) are predicted to truncate the protein, likely impairing zinc transport activity.

Gain of Function (GOF)

No gain-of-function mutations have been reported for SLC30A6.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for SLC30A6.

Gene Ontology (GO)

• GO:0005385 – zinc ion transmembrane transporter activity • GO:0005794 – Golgi apparatus
• GO:0006829 – zinc ion transport • GO:0071577 – zinc ion export from Golgi apparatus
• GO:0046873 – metal ion transmembrane transporter activity

Pathways

Zinc homeostasis (Reactome: R-HSA-435354)
Metal ion SLC transporters (Reactome: R-HSA-425393)

Protein Summary

ZnT6 (UniProt Q6NXT4) is a 460-amino acid protein with six transmembrane domains. It localizes to the Golgi apparatus and functions as a zinc/proton antiporter, exporting zinc from the cytosol into the Golgi lumen. ZnT6 forms functional heterodimers with ZnT5 (SLC30A5) to achieve full transport activity. It is widely expressed, with highest levels in brain, pancreas, and prostate. Post-translational modifications include N-glycosylation at Asn-298.

Related Products

Product name Cat.No. Species Gene ID
SLC30A6 Knockout HEK293 Cell Line EDC08078 Human 55676 Details Get a Quote
SLC30A6 Knockout A-549 Cell Line EDJ-KQ46035 Human 55676 Details Get a Quote
SLC30A6 Knockout HCT 116 Cell Line EDJ-KQ46036 Human 55676 Details Get a Quote
SLC30A6 Knockout HeLa Cell Line EDJ-KQ46037 Human 55676 Details Get a Quote
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