SLC30A9

Chr 4p13

solute carrier family 30 member 9

Aliases:: HUEL, ZNT9, GAC63
MANE:: ENST00000264451.12

OMIM: 604604 ↗NCBI: 10463 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC30A9 · Q6PML9

v62025-08-01

Predicted Aligned Error matrix for SLC30A9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.9/ 100

Confident

568 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)27%
Low(50–70)7%
Very low(< 50)22%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
0.73
hereditary disease
0.47
neurodegenerative disease
0.41
major depressive disorder
0.41
bipolar disorder
0.35
Abnormality of the skeletal system
0.32
autism spectrum disorder
0.26
anorexia nervosa
0.25
attention deficit-hyperactivity disorder
0.25
obsessive-compulsive disorder
0.25

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

Protein function (UniProt)

Proton-coupled zinc antiporter SLC30A9, mitochondrial

Mitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health (PubMed:28334855, PubMed:34397090, PubMed:34433664, PubMed:35614220). In nucleus, functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity)