SLC39A10
Chr 2solute carrier family 39 member 10
Also known as: LZT-Hs2, ZIP10
This protein functions as a zinc-influx transporter that forms heterodimers with SLC39A6 to mediate cellular zinc uptake, playing essential roles in mitosis initiation and B-cell maintenance. Mutations cause autosomal recessive developmental delays, intellectual disability, and seizures, typically with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
134 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 74 | 5 | 0 | 79 |
Likely Benign | 0 | 9 | 0 | 0 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 83 | 38 | 0 | 121 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC39A10 · 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