SLC39A14
Chr 8ADARsolute carrier family 39 member 14
Also known as: HCIN, HMNDYT2, LZT-Hs4, NET34, ZIP14, cig19
This protein is a divalent metal transporter that mediates cellular uptake of manganese, zinc, and iron, functioning as a critical regulator of systemic metal homeostasis including manganese transport across the blood-brain barrier and intestinal absorption. Mutations cause hypermanganesemia with dystonia 2 and hyperostosis cranialis interna, both involving early-onset movement disorders with abnormal metal accumulation. The gene shows both autosomal dominant and autosomal recessive inheritance patterns and is moderately constrained against loss-of-function variants (LOEUF 0.554).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC39A14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools