HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC39A13
solute carrier family 39 member 13
Chromosome 11 Β· 11p11.2
NCBI Gene: 91252Ensembl: ENSG00000165915.14HGNC: HGNC:20859UniProt: G3V1B2
25PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
zinc ion transmembrane transporter activityprotein bindingprotein homodimerization activityzinc ion transmembrane transportEhlers-Danlos syndrome, spondylocheirodysplastic typespondylodysplastic Ehlers-Danlos syndromeSpondyloepimetaphyseal dysplasia - abnormal dentitionspondyloepimetaphyseal dysplasia-abnormal dentition syndrome
✦AI Summary

SLC39A13 (ZIP13) is a metal transporter protein that plays crucial roles in both zinc and iron homeostasis across multiple cellular compartments. As a zinc transporter, SLC39A13 transports Zn(2+) from the Golgi apparatus to the cytosol, influencing cytoplasmic zinc levels 12. Recent evidence demonstrates that SLC39A13 also promotes intracellular iron transport, facilitating iron movement from the cytosol to the ER/Golgi hub while reducing cytosolic iron levels 3. Loss of ZIP13 function causes iron deficiency in organellar compartments including ER/Golgi, lysosomes, and mitochondria, while elevating cytosolic iron 3. Mutations in SLC39A13 cause Ehlers-Danlos syndrome, spondylodysplastic type 3 (SCD-EDS), characterized by thin wrinkled skin, distinctive facial features, short stature, platyspondyly, and reduced collagen crosslink ratios 4. The condition may include vascular complications such as cerebrovascular accidents and severe keratoconus 4. SLC39A13 expression is altered with aging and obesity in brain tissue 5, and genetic variants have been associated with kidney disease 6. The protein's dual metal transport function makes it essential for maintaining proper cellular metal homeostasis across multiple organ systems.

Sources cited
1
SLC39A13 transports Zn(2+) from Golgi apparatus to cytosol
PMID: 21917916
2
SLC39A13 influences zinc levels in cytosol areas
PMID: 23213233
3
SLC39A13 promotes intracellular iron transport and reduces cytosolic iron levels
PMID: 39738060
4
ZIP13 loss causes iron deficiency in ER/Golgi and other organelles while elevating cytosolic iron
PMID: 39738060
5
SLC39A13 mutations cause Ehlers-Danlos syndrome spondylodysplastic type 3 with characteristic clinical features
PMID: 32295219
6
Patients may develop cerebrovascular accidents and severe keratoconus
PMID: 32295219
7
SLC39A13 expression is altered with aging and obesity in brain tissue
PMID: 27300264
8
SLC39A13 genetic variants are associated with kidney disease
PMID: 38858654
Disease Associationsβ“˜21
Ehlers-Danlos syndrome, spondylocheirodysplastic typeOpen Targets
0.75Strong
spondylodysplastic Ehlers-Danlos syndromeOpen Targets
0.37Weak
Spondyloepimetaphyseal dysplasia - abnormal dentitionOpen Targets
0.37Weak
spondyloepimetaphyseal dysplasia-abnormal dentition syndromeOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.22Weak
hypertensionOpen Targets
0.21Weak
Ehlers-Danlos syndromeOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
strokeOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.18Weak
open-angle glaucomaOpen Targets
0.17Weak
Abruptio PlacentaeOpen Targets
0.17Weak
morbid obesityOpen Targets
0.15Weak
deep vein thrombosisOpen Targets
0.14Weak
thrombophiliaOpen Targets
0.14Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
response to xenobiotic stimulusOpen Targets
0.12Weak
myopiaOpen Targets
0.12Weak
Ehlers-Danlos syndrome, spondylodysplastic type, 3UniProt
Pathogenic Variants2
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)Pathogenic
Ehlers-Danlos syndrome, spondylocheirodysplastic type
β˜…β˜†β˜†β˜†2023β†’ Residue 162
NM_001128225.3(SLC39A13):c.598C>T (p.Gln200Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 200
View on ClinVar β†—
Related Genes
SLC30A4Protein interaction77%SLC39A1Protein interaction77%SLC30A6Protein interaction77%SLC39A11Protein interaction74%SLC39A9Protein interaction73%SLC30A2Protein interaction73%
Tissue Expression6 tissues
Lung
100%
Heart
89%
Ovary
87%
Liver
42%
Bone Marrow
20%
Brain
11%
Gene Interaction Network
Click a node to explore
SLC39A13SLC30A4SLC39A1SLC30A6SLC39A11SLC39A9SLC30A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96H72
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.45 [0.31–0.66]
RankingsWhere SLC39A13 stands among ~20K protein-coding genes
  • #13,072of 20,598
    Most Researched25
  • #4,534of 5,498
    Most Pathogenic Variants2
  • #4,854of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSLC39A13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol Β· 2021
1.00
2
Mammalian SLC39A13 promotes ER/Golgi iron transport and iron homeostasis in multiple compartments.
PMID: 39738060
Nat Commun Β· 2024
0.90
3
Pumping iron.
PMID: 25128012
Elife Β· 2014
0.80
4
Genetic variants affecting mitochondrial function provide further insights for kidney disease.
PMID: 38858654
BMC Genomics Β· 2024
0.70
5
The Connective Tissue Disorder Associated with Recessive Variants in the
PMID: 32295219
Genes (Basel) Β· 2020
0.60