SLC11A2

Chr 12

solute carrier family 11 member 2

Also known as: AHMIO1, DCT1, DMT1, NRAMP2

NCBI Gene: 4891ENSG00000110911UniProt: P49281

This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnemia, hypochromic microcytic, with iron overload 1

Clinical highlights

Gene-disease validity (ClinGen)
microcytic anemia with liver iron overload · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.53
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
Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.007
Z-score 3.63
OE 0.31 (0.19–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.23Z-score
OE missense 0.65 (0.58–0.73)
213 obs / 326.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.31 (0.19–0.53)
0≤0.351.4
Missense OE?0.65 (0.58–0.73)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 10 / 32.3Missense obs/exp: 213 / 326.1Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC11A2 · 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