SLC30A2

Chr 1p36.11

solute carrier family 30 member 2

MANE:: ENST00000374276.4

OMIM: 609617 ↗NCBI: 7780 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SLC30A2 · Q9BRI3

v62025-08-01

Predicted Aligned Error matrix for SLC30A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.9/ 100

Confident

372 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)47%
Low(50–70)5%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

zinc deficiency, transient neonatal
0.65
hypertensive disorder
0.19
response to xenobiotic stimulus
0.19
hereditary disease
0.19
Familial prostate cancer
0.12
prostate cancer
0.12
preeclampsia
0.06
Zinc deficiency
0.06
gastric cancer
0.05
Smith-McCort dysplasia
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proton-coupled zinc antiporter SLC30A2

Electroneutral proton-coupled antiporter concentrating zinc ions into a variety of intracellular organelles including endosomes, zymogen granules and mitochondria. Thereby, plays a crucial role in cellular zinc homeostasis to confer upon cells protection against its potential cytotoxicity (PubMed:17065149, PubMed:21289295, PubMed:22733820, PubMed:25657003, PubMed:25808614, PubMed:30893306). Regulates the zinc concentration of milk, through the transport of zinc ions into secretory vesicles of mammary cells (PubMed:19496757). By concentrating zinc ions into lysosomes participates to lysosomal-mediated cell death during early mammary gland involution (PubMed:25808614)