SLC39A13 Chromosome 11
Solute carrier family 39 member 13
Upload your DNA to see your personal genotypes for variants in SLC39A13.
What This Gene Does
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Solute carrier family 39
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000165915
Associated Conditions (9)
Ehlers-Danlos syndrome
spondylocheirodysplastic type
Inborn genetic diseases
6 conditions
Connective tissue disorder
SLC39A13-related disorder
Sarcoma
Gastric cancer
Lung cancer
Key Variants
RS121434363
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
RS138998777
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases
Health Risk
RS140574574
Conflicting classifications of pathogenicity
6 conditions, Ehlers-Danlos syndrome, spondylocheirodysplastic type
Health Risk
RS140597965
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
RS148291843
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases
Health Risk
RS149930229
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases
Health Risk
RS150556863
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Connective tissue disorder
Health Risk
RS199818224
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
RS201425631
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
RS35978122
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, SLC39A13-related disorder
Health Risk
RS368796707
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
RS371414744
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434363 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS138998777 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases |
| RS140574574 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Ehlers-Danlos syndrome, spondylocheirodysplastic type |
| RS140597965 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS148291843 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases |
| RS149930229 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases |
| RS150556863 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Connective tissue disorder |
| RS199818224 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS201425631 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS35978122 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, SLC39A13-related disorder |
| RS368796707 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS371414744 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS375548129 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Connective tissue disorder |
| RS377290130 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Sarcoma |
| RS542593908 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Ehlers-Danlos syndrome, spondylocheirodysplastic type |
| RS572017658 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Connective tissue disorder |
| RS749499150 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS753665968 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS770908923 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Inborn genetic diseases |
| RS775396957 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS779162662 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |
| RS2153299187 | Health Risk | Likely pathogenic | — |
| RS1333436792 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, spondylocheirodysplastic type, Ehlers-Danlos syndrome |