SLC39A4 Chromosome 8
Solute carrier family 39 member 4
Upload your DNA to see your personal genotypes for variants in SLC39A4.
What This Gene Does
This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Solute carrier family 39
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000147804
Associated Conditions (3)
Hereditary acrodermatitis enteropathica
Inborn genetic diseases
SLC39A4-related disorder
Key Variants
RS139192292
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS141890870
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Inborn genetic diseases, Hereditary acrodermatitis enteropathica
Health Risk
RS141948792
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS143819461
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS144252108
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, SLC39A4-related disorder, Hereditary acrodermatitis enteropathica
Health Risk
RS150864996
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, SLC39A4-related disorder, Hereditary acrodermatitis enteropathica
Health Risk
RS1822216217
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS187080747
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS200673705
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS200693339
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS201681875
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
RS369544835
Conflicting classifications of pathogenicity
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
Health Risk
All Variants (127)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2537433762 | Health Risk | Pathogenic | — |
| RS2537434438 | Health Risk | Pathogenic | — |
| RS2537435642 | Health Risk | Pathogenic | — |
| RS2537438002 | Health Risk | Pathogenic | — |
| RS2537438572 | Health Risk | Pathogenic | — |
| RS2537440099 | Health Risk | Pathogenic | — |
| RS2537440313 | Health Risk | Pathogenic | — |
| RS2537440326 | Health Risk | Pathogenic | — |
| RS2537440332 | Health Risk | Pathogenic | — |
| RS2537440685 | Health Risk | Pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS781908504 | Health Risk | Pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS781975172 | Health Risk | Pathogenic | — |
| RS781996962 | Health Risk | Pathogenic | — |
| RS782002895 | Health Risk | Pathogenic | — |
| RS782044928 | Health Risk | Pathogenic | — |
| RS782241064 | Health Risk | Pathogenic | — |
| RS782434053 | Health Risk | Pathogenic | — |
| RS782695425 | Health Risk | Pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS868910488 | Health Risk | Pathogenic | — |
| RS1057523837 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS121434287 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, SLC39A4-related disorder, Hereditary acrodermatitis enteropathica |
| RS1285049551 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS1564709234 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2130799141 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS368996660 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS781852691 | Health Risk | Pathogenic/Likely pathogenic | Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS782563835 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hereditary acrodermatitis enteropathica, SLC39A4-related disorder |