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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC30A5
solute carrier family 30 member 5
Chromosome 5 Β· 5q13.1-q13.2
NCBI Gene: 64924Ensembl: ENSG00000145740.21HGNC: HGNC:19089UniProt: Q8TAD4
58PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cobalt ion transportzinc ion transportGPI anchor biosynthetic processzinc ion transmembrane transporter activityAbnormality of the skeletal systemhydrops fetalishypertrophic cardiomyopathyNoncompaction cardiomyopathy
✦AI Summary

SLC30A5 encodes ZnT5, a zinc transporter that maintains cellular zinc homeostasis by facilitating zinc efflux from the cytoplasm 1. The protein functions as a zinc ion:proton antiporter and exists as multiple splice variants with distinct subcellular localizations - either in the Golgi apparatus or at the plasma membrane including the apical enterocyte membrane 23. ZnT5 plays a critical role in dietary zinc absorption in the small intestine, where its expression is homeostically regulated by zinc availability through both transcriptional repression and mRNA stabilization mechanisms 23. The gene contains a CpG island in its promoter region that can be regulated by DNA methylation 4. Biallelic loss-of-function variants in SLC30A5 cause severe human disease phenotypes including perinatal lethal cardiomyopathy with hydrops fetalis 5 and severe neonatal hypotonia syndrome with respiratory failure leading to death in infancy 1. These pathogenic variants result in reduced cytosolic zinc concentrations, demonstrating the essential role of ZnT5 in maintaining proper cellular zinc homeostasis 1. The transporter is also differentially expressed in prostate cancer, suggesting broader roles in disease pathogenesis 6.

Sources cited
1
ZnT5 functions as zinc efflux transporter; biallelic variants cause severe hypotonia syndrome with reduced cytosolic zinc
PMID: 39790720
2
ZnT5 splice variants have different subcellular localizations and are regulated by zinc through transcription and mRNA stability
PMID: 17234632
3
ZnT5 localizes to apical enterocyte membrane and is homeostatically regulated by dietary zinc supplementation
PMID: 15753530
4
SLC30A5 promoter contains CpG island that can be regulated by DNA methylation
PMID: 19245740
5
Biallelic loss-of-function variants cause perinatal lethal cardiomyopathy with hydrops fetalis
PMID: 33547425
6
SLC30A5 is differentially expressed in prostate cancer
PMID: 27833104
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.34Weak
hydrops fetalisOpen Targets
0.33Weak
hypertrophic cardiomyopathyOpen Targets
0.33Weak
Concentric hypertrophic cardiomyopathyOpen Targets
0.33Weak
Noncompaction cardiomyopathyOpen Targets
0.33Weak
goutOpen Targets
0.30Weak
pathological myopiaOpen Targets
0.27Weak
obesityOpen Targets
0.24Weak
Sensorineural hearing impairmentOpen Targets
0.23Weak
cardiomyopathyOpen Targets
0.23Weak
hypertensionOpen Targets
0.22Weak
hearing lossOpen Targets
0.19Weak
response to antihypertensive drugOpen Targets
0.18Weak
injuryOpen Targets
0.18Weak
idiopathic pulmonary fibrosisOpen Targets
0.17Weak
ovarian dysfunctionOpen Targets
0.16Weak
smoking initiationOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.16Weak
Increased blood pressureOpen Targets
0.15Weak
skin diseaseOpen Targets
0.15Weak
Pathogenic Variants2
NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs)Likely pathogenic
Hypertrophic cardiomyopathy;Hydrops fetalis;Noncompaction cardiomyopathy;Severe hydrops fetalis;Concentric hypertrophic cardiomyopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 661
NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs)Likely pathogenic
Hypertrophic cardiomyopathy;Hydrops fetalis;Noncompaction cardiomyopathy;Severe hydrops fetalis;Concentric hypertrophic cardiomyopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 278
View on ClinVar β†—
Related Genes
SLC39A7Protein interaction87%SLC39A14Protein interaction87%SLC39A6Protein interaction87%SLC39A1Protein interaction87%SLC39A10Protein interaction87%ALPLProtein interaction86%
Tissue Expression6 tissues
Heart
100%
Liver
84%
Ovary
77%
Lung
70%
Brain
57%
Bone Marrow
55%
Gene Interaction Network
Click a node to explore
SLC30A5SLC39A7SLC39A14SLC39A6SLC39A1SLC39A10ALPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TAD4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.47 [0.33–0.67]
RankingsWhere SLC30A5 stands among ~20K protein-coding genes
  • #7,918of 20,598
    Most Researched58
  • #4,413of 5,498
    Most Pathogenic Variants2
  • #4,976of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedSLC30A5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Severe neonatal hypotonia due to
PMID: 39790720
JIMD Rep Β· 2025
1.00
2
Mechanisms of mammalian zinc-regulated gene expression.
PMID: 19021537
Biochem Soc Trans Β· 2008
0.90
3
Does promoter methylation of the SLC30A5 (ZnT5) zinc transporter gene contribute to the ageing-related decline in zinc status?
PMID: 19245740
Proc Nutr Soc Β· 2009
0.80
4
Intestinal and placental zinc transport pathways.
PMID: 15070437
Proc Nutr Soc Β· 2004
0.70
5
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.
PMID: 33547425
Eur J Hum Genet Β· 2021
0.60