SLC39A12

Chr 10

solute carrier family 39 member 12

Also known as: LZT-Hs8, ZIP-12, ZIP12, bA570F3.1

NCBI Gene: 221074ENSG00000148482UniProt: Q504Y0

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.000
Z-score 2.57
OE 0.50 (0.33–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.29Z-score
OE missense 1.04 (0.96–1.14)
375 obs / 359.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.50 (0.33–0.76)
0≤0.351.4
Missense OE?1.04 (0.96–1.14)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 15 / 30.3Missense obs/exp: 375 / 359.8Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC39A12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients