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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC30A7
solute carrier family 30 member 7
Chromosome 1 Β· 1p21.2
NCBI Gene: 148867Ensembl: ENSG00000162695.14HGNC: HGNC:19306UniProt: Q8NEW0
75PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
zinc ion transmembrane transporter activityidentical protein bindingzinc ion import into Golgi lumenGolgi apparatusZiegler-Huang syndromeJoubert syndrome 1multiple sclerosisDecreased testicular size
✦AI Summary

SLC30A7 (ZNT7) is a zinc ion transporter that mediates zinc entry from the cytosol into organelles along the secretory pathway, particularly the Golgi apparatus 12. By regulating intracellular zinc homeostasis, SLC30A7 contributes to the activation and folding of zinc-dependent enzymes like alkaline phosphatases 12. Biallelic SLC30A7 variants cause Ziegler-Huang syndrome, characterized by stunted growth, testicular hypoplasia, and bone marrow failure 3. Heterozygous de novo variants have been identified in Joubert syndrome cases, suggesting additional roles in neuronal development, possibly through interactions with ciliary proteins and Sonic Hedgehog signaling 4. SLC30A7 also functions in glucose metabolism, as Slc30a7 deletion impairs glucose tolerance and reduces glucose-stimulated insulin secretion in mice 5. Recent studies reveal broader pathophysiological roles: SLC30A7 regulates cuproptosis (copper-dependent cell death) in glioblastoma via the JAK2/STAT3/ATP7A pathway 6, and miR-200c-3p suppresses SLC30A7 to regulate pyroptosis in diabetic retinopathy 7. Downregulation of SLC30A7 correlates with increased risk of diabetic peripheral artery disease 8. Genetic variants in SLC30A7 contribute to multiple sclerosis susceptibility 9.

Sources cited
1
SLC30A7 mediates zinc entry into secretory pathway organelles and regulates enzyme folding
PMID: 15525635
2
SLC30A7 mediates zinc entry into secretory pathway organelles and regulates enzyme folding
PMID: 15994300
3
Biallelic SLC30A7 variants cause stunted growth, testicular hypoplasia, and bone marrow failure; first human disease association
PMID: 36821639
4
De novo SLC30A7 variants associated with Joubert syndrome; potential interaction with ciliary proteins
PMID: 35751429
5
Slc30a7 deletion impairs glucose tolerance and glucose-stimulated insulin secretion
PMID: 27754787
6
SLC30A7 regulates cuproptosis in glioblastoma via JAK2/STAT3/ATP7A pathway
PMID: 38393693
7
miR-200c-3p targets SLC30A7 to regulate pyroptosis in diabetic retinopathy
PMID: 35607288
8
SLC30A7 downregulation increases risk of diabetic peripheral artery disease
PMID: 40824138
9
SLC30A7 variants contribute to multiple sclerosis susceptibility in genetic combinations
PMID: 33802599
Disease Associationsβ“˜21
Ziegler-Huang syndromeOpen Targets
0.50Moderate
Joubert syndrome 1Open Targets
0.33Weak
multiple sclerosisOpen Targets
0.29Weak
Decreased testicular sizeOpen Targets
0.27Weak
severe early-onset pulmonary alveolar proteinosis due to MARS deficiencyOpen Targets
0.27Weak
Testicular atrophyOpen Targets
0.27Weak
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.08Suggestive
Rare genetic female infertilityOpen Targets
0.08Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
Hydatidiform MoleOpen Targets
0.07Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
oocyte maturation defect 13Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
oocyte maturation defect 12Open Targets
0.07Suggestive
keratoconus 5Open Targets
0.07Suggestive
Ziegler-Huang syndromeUniProt
Pathogenic Variants4
NM_133496.5(SLC30A7):c.296+1G>ALikely pathogenic
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
β˜…β˜†β˜†β˜†2025
NM_133496.5(SLC30A7):c.842+15T>CLikely pathogenic
Ziegler-Huang syndrome|Testicular atrophy
β˜…β˜†β˜†β˜†2022
NM_133496.5(SLC30A7):c.21dup (p.Asp8fs)Likely pathogenic
Ziegler-Huang syndrome|Decreased testicular size
β˜…β˜†β˜†β˜†2022β†’ Residue 8
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)Pathogenic
Joubert syndrome 1
β˜†β˜†β˜†β˜†β†’ Residue 164
View on ClinVar β†—
Related Genes
ALPLProtein interaction89%SLC39A8Protein interaction86%SLC39A14Protein interaction85%SLC39A6Protein interaction85%SLC39A10Protein interaction85%SLC39A11Protein interaction81%
Tissue Expression6 tissues
Liver
100%
Lung
99%
Bone Marrow
64%
Ovary
56%
Brain
35%
Heart
31%
Gene Interaction Network
Click a node to explore
SLC30A7ALPLSLC39A8SLC39A14SLC39A6SLC39A10SLC39A11
PROTEIN STRUCTURE
Preparing viewer…
PDB8J7T Β· 2.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.12]
RankingsWhere SLC30A7 stands among ~20K protein-coding genes
  • #6,366of 20,598
    Most Researched75
  • #3,772of 5,498
    Most Pathogenic Variants4
  • #11,468of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedSLC30A7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
PMID: 36821639
Hum Mol Genet Β· 2023
1.00
2
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
PMID: 35751429
Am J Med Genet A Β· 2022
0.90
3
Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM.
PMID: 38393693
Aging (Albany NY) Β· 2024
0.80
4
Decoding the Spatiotemporal Dynamics of ENTPD1 in Diabetic Foot Ulcer Through Multi-Omic Profiling.
PMID: 40824138
FASEB J Β· 2025
0.70
5
MiR-200c-3p regulates pyroptosis by targeting SLC30A7 in diabetic retinopathy.
PMID: 35607288
Hum Exp Toxicol Β· 2022
0.60