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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC30A2
solute carrier family 30 member 2
Chromosome 1 Β· 1p36.11
NCBI Gene: 7780Ensembl: ENSG00000158014.16HGNC: HGNC:11013UniProt: Q9BRI3
48PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
zinc ion import into lysosomezinc ion transmembrane transporter activityplasma membranecytoplasmzinc deficiency, transient neonatalgenetic disorderhypertensionresponse to xenobiotic stimulus
✦AI Summary

SLC30A2 (ZnT2) encodes a zinc transporter protein that functions as an electroneutral proton-coupled antiporter mediating zinc efflux from cells and zinc import into intracellular compartments including lysosomes, mitochondria, and secretory vesicles 1. The protein is critical for zinc homeostasis, with expression regulated by zinc availability through metal-responsive transcription factor 1 (MTF-1) and zinc finger E-box binding homeobox (ZEB) proteins 2. SLC30A2 plays essential roles in Paneth cell function, affecting granule formation, secretion, and antimicrobial activity in the intestine 3. Loss-of-function mutations in SLC30A2 cause transient neonatal zinc deficiency (TNZD), an autosomal dominant condition where impaired zinc transport into breast milk leads to severe zinc deficiency in exclusively breastfed infants 4. TNZD presents with dermatitis, diarrhea, alopecia, and growth retardation, but responds rapidly to zinc supplementation 4. Genetic variants affecting SLC30A2 function are associated with altered gut microbiome composition, mucosal inflammation, and increased infection susceptibility 35. Recent studies suggest SLC30A2 may also play roles in cancer progression and cardiometabolic diseases through zinc homeostasis regulation 67.

Sources cited
1
SLC30A2 functions as a zinc efflux transporter and is involved in zinc transport into vesicles
PMID: 9521625
2
SLC30A2 expression is regulated by zinc through MTF-1 and ZEB transcription factors
PMID: 25618524
3
SLC30A2 is critical for Paneth cell function and affects gut microbiome and mucosal inflammation
PMID: 34965180
4
Loss-of-function mutations cause transient neonatal zinc deficiency through impaired zinc secretion into breast milk
PMID: 28665435
5
SLC30A2 mutations cause immunodeficiency with increased infection susceptibility
PMID: 29635109
6
SLC30A2 is upregulated in gastric cancer and affects cancer progression
PMID: 39473403
7
SLC30A2 variants affect urinary zinc levels and are associated with cardiometabolic diseases
PMID: 41325371
Disease Associationsβ“˜21
zinc deficiency, transient neonatalOpen Targets
0.64Moderate
genetic disorderOpen Targets
0.19Weak
hypertensionOpen Targets
0.18Weak
response to xenobiotic stimulusOpen Targets
0.15Weak
prostate cancerOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
Zinc deficiencyOpen Targets
0.06Suggestive
preeclampsiaOpen Targets
0.05Suggestive
MODYOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.03Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.03Suggestive
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomaliesOpen Targets
0.03Suggestive
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
infectious colitisOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
breast diseaseOpen Targets
0.02Suggestive
Zinc deficiency, transient neonatalUniProt
Pathogenic Variants5
NM_001004434.3(SLC30A2):c.663del (p.Phe221fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 221
NM_001004434.3(SLC30A2):c.652C>T (p.Arg218Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 218
NM_001004434.3(SLC30A2):c.528del (p.Thr177fs)Likely pathogenic
Zinc deficiency, transient neonatal
β˜…β˜†β˜†β˜†2020β†’ Residue 177
NM_001004434.3(SLC30A2):c.259G>A (p.Gly87Arg)Pathogenic
Zinc deficiency, transient neonatal
β˜†β˜†β˜†β˜†2012β†’ Residue 87
NM_001004434.3(SLC30A2):c.161A>G (p.His54Arg)Pathogenic
Zinc deficiency, transient neonatal
β˜†β˜†β˜†β˜†2006β†’ Residue 54
View on ClinVar β†—
Related Genes
SLC30A3Shared pathway80%SLC39A12Protein interaction76%SLC39A5Protein interaction75%SLC39A4Protein interaction75%SLC39A6Protein interaction74%SLC39A10Protein interaction74%
Tissue Expression6 tissues
Heart
100%
Brain
9%
Ovary
5%
Liver
5%
Lung
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC30A2SLC30A3SLC39A12SLC39A5SLC39A4SLC39A6SLC39A10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BRI3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.47 [0.33–0.70]
RankingsWhere SLC30A2 stands among ~20K protein-coding genes
  • #9,135of 20,598
    Most Researched48
  • #3,587of 5,498
    Most Pathogenic Variants5
  • #5,320of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedSLC30A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Loss-of-function
PMID: 34965180
Gut Microbes Β· 2022
1.00
2
Mammalian zinc transporters.
PMID: 9521625
J Nutr Β· 1998
0.90
3
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
PMID: 28665435
Metallomics Β· 2017
0.80
4
Ion channelopathies of the immune system.
PMID: 29635109
Curr Opin Immunol Β· 2018
0.70
5
Genetic and Physiological Factors Affecting Human Milk Production and Composition.
PMID: 32455695
Nutrients Β· 2020
0.60