HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC30A4
solute carrier family 30 member 4
Chromosome 15 · 15q21.1|15q21.1
NCBI Gene: 7782Ensembl: ENSG00000104154.8HGNC: HGNC:11015UniProt: O14863
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
zinc ion transmembrane transporter activityprotein bindingresponse to toxic substancezinc ion transmembrane transportpreeclampsiaAcheiropodiaAcromesomelic dysplasia, Grebe typeAbsent tibia - polydactyly
✦AI Summary

SLC30A4 encodes a zinc transporter protein located on chromosome 15-q21 that functions as a proton-coupled zinc ion antiporter 1. The protein mediates zinc transport, likely functioning in vesicular zinc sequestration and homeostasis 23. SLC30A4 is highly expressed in mammary gland tissue and plays a role in zinc secretion into milk, similar to the murine lethal milk phenotype 43. The transporter localizes to intracellular compartments including late endosomes and lysosomes, consistent with vesicular zinc transport functions 4. Clinically, SLC30A4 dysfunction has been implicated in pathological zinc homeostasis. IL-4 activation triggers SLC30A4-dependent increases in intracellular labile zinc in macrophages, which intracellular pathogens exploit for survival 5. Additionally, SLC30A4-AS1, a long noncoding RNA, regulates periodontal ligament stem cell senescence in inflammatory environments through modulation of TP53BP1 alternative splicing 6. Altered expression of SLC30A4 and related zinc transporters has been associated with obesity and age-related changes in brain zinc homeostasis, with potential implications for neurodegenerative disease risk 7. However, SLC30A4 mutations were excluded as causative in acrodermatitis enteropathica and periodic catatonia 18.

Sources cited
1
SLC30A4 is a zinc transporter family member located on chromosome 15q15-q21; mutations were excluded in acrodermatitis enteropathica
PMID: 11511923
2
ZnT-4 (SLC30A4) is an exporter highly expressed in mammary gland and brain; zinc transporters function in zinc homeostasis and efflux
PMID: 9521625
3
SLC30A4 is highly expressed in buccal cells and associated with zinc secretion into milk; the protein does not co-localize with vesicular zinc pools
PMID: 12743795
4
SLC30A4 mediates IL-4-induced increase in intracellular labile zinc in macrophages, promoting intracellular pathogen survival
PMID: 27653687
5
SLC30A4-AS1 long noncoding RNA regulates periodontal ligament stem cell senescence in inflammation via TP53BP1 alternative splicing
PMID: 39572253
6
SLC30A4 family gene expression is altered with increasing age and BMI in human brain, with implications for neurodegenerative disease
PMID: 27300264
7
SLC30A4 mutation screening found no association with periodic catatonia schizophrenia on chromosome 15q15
PMID: 14628196
8
ZnT-4 (SLC30A4) functions in vesicular zinc transport and may be associated with zinc secretion into milk
PMID: 10801948
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.27Weak
AcheiropodiaOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
Absent tibia - polydactylyOpen Targets
0.05Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.05Suggestive
acheiropodyOpen Targets
0.05Suggestive
asthmaOpen Targets
0.05Suggestive
acromesomelic dysplasia 2AOpen Targets
0.05Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.05Suggestive
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.05Suggestive
Blount diseaseOpen Targets
0.04Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.04Suggestive
tibial hemimeliaOpen Targets
0.04Suggestive
syndactyly type 4Open Targets
0.04Suggestive
dystonia 27Open Targets
0.04Suggestive
laurin-Sandrow syndromeOpen Targets
0.04Suggestive
mesomelic dysplasia, Savarirayan typeOpen Targets
0.04Suggestive
Fuhrmann syndromeOpen Targets
0.04Suggestive
spondyloepimetaphyseal dysplasia, Missouri typeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC39A4Protein interaction96%SLC30A6Protein interaction89%SLC28A2Protein interaction79%ATP7AProtein interaction78%ATP7BProtein interaction78%GATMProtein interaction78%
Tissue Expression6 tissues
Brain
100%
Ovary
56%
Heart
54%
Liver
38%
Lung
36%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
SLC30A4SLC39A4SLC30A6SLC28A2ATP7AATP7BGATM
PROTEIN STRUCTURE
Preparing viewer…
PDB9JJ3 · 3.03 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.66Intermediate
Observed/Expected LoF0.34 [0.19–0.68]
RankingsWhere SLC30A4 stands among ~20K protein-coding genes
  • #10,237of 20,598
    Most Researched40
  • #5,049of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSLC30A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica.
PMID: 11511923
Hum Genet · 2001
1.00
2
Mammalian zinc transporters.
PMID: 9521625
J Nutr · 1998
0.90
3
SLC30A4-AS1 Mediates the Senescence of Periodontal Ligament Stem Cells in Inflammatory Environments via the Alternative Splicing of TP53BP1.
PMID: 39572253
Cell Prolif · 2025
0.80
4
IL-4 Induces Metallothionein 3- and SLC30A4-Dependent Increase in Intracellular Zn(2+) that Promotes Pathogen Persistence in Macrophages.
PMID: 27653687
Cell Rep · 2016
0.70
5
Obesity and age-related alterations in the gene expression of zinc-transporter proteins in the human brain.
PMID: 27300264
Transl Psychiatry · 2016
0.60