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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC39A4
solute carrier family 39 member 4
Chromosome 8 Β· 8q24.3
NCBI Gene: 55630Ensembl: ENSG00000147804.10HGNC: HGNC:17129UniProt: Q6P5W5
83PubMed Papers
21Diseases
0Drugs
146Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranezinc ion bindingzinc ion sequestering activityidentical protein bindingacrodermatitis enteropathicagenetic disorderspondylolisthesisneoplasm
✦AI Summary

SLC39A4 encodes ZIP4, a selective zinc transporter that plays an essential role in dietary zinc uptake from the small intestine 1. The protein mediates Zn2+ transport across cell membranes and exhibits zinc-dependent regulation of its uniporter activity 1. ZIP4 is highly expressed in the duodenum and jejunum, where it transports dietary zinc ions from the intestinal lumen into enterocytes 2. Beyond zinc homeostasis, ZIP4 functions as a cancer-promoting factor by activating EMT plasticity through the miR-373-LATS2-ZEB1/YAP1-ITGA3 signaling axis in pancreatic cancer 3. In glioblastoma, ZIP4 modulates microglial plasticity through extracellular vesicles carrying TREM1, promoting a protumorigenic immune environment 4. Mutations in SLC39A4 cause acrodermatitis enteropathica (AE), a rare autosomal recessive disorder characterized by periorificial dermatitis, alopecia, and diarrhea due to impaired zinc absorption 52. Clinical manifestations can occur even with normal serum zinc levels, making alkaline phosphatase a valuable diagnostic marker 6. The mutational spectrum is diverse, with over 31 variants reported across the entire gene 2. Treatment involves zinc supplementation, which is crucial for immune function and intestinal adaptation 78.

Sources cited
1
ZIP4 transports dietary zinc from duodenum into enterocytes and exhibits zinc-dependent regulation
PMID: 38367035
2
SLC39A4 encodes a zinc-specific transporter highly expressed in duodenum and jejunum, with over 31 mutations causing AE
PMID: 19370757
3
ZIP4 promotes EMT plasticity in pancreatic cancer through miR-373-LATS2-ZEB1/YAP1-ITGA3 signaling
PMID: 33421513
4
ZIP4 modulates microglial plasticity in glioblastoma through extracellular vesicles carrying TREM1
PMID: 40305049
5
SLC39A4 mutations cause acrodermatitis enteropathica with periorificial dermatitis, alopecia, and diarrhea
PMID: 31987033
6
AE can present with normal zinc levels, making alkaline phosphatase a valuable diagnostic marker
PMID: 41385451
7
Zinc supplementation improves outcomes in short bowel syndrome through intestinal adaptation
PMID: 39375337
8
SLC39A4 mutations cause immune dysfunction through zinc deficiency
PMID: 29635109
Disease Associationsβ“˜21
acrodermatitis enteropathicaOpen Targets
0.84Strong
genetic disorderOpen Targets
0.47Moderate
spondylolisthesisOpen Targets
0.20Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
nail-patella syndromeOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
pancreatic adenocarcinomaOpen Targets
0.07Suggestive
MODYOpen Targets
0.07Suggestive
lumbar disc degenerationOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.06Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
cervical squamous cell carcinomaOpen Targets
0.06Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
hyperproinsulinemiaOpen Targets
0.05Suggestive
Acrodermatitis enteropathica, zinc-deficiency typeUniProt
Pathogenic Variants146
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)Pathogenic
Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2026β†’ Residue 324
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)Pathogenic
Hereditary acrodermatitis enteropathica|not provided|SLC39A4-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 200
NM_130849.4(SLC39A4):c.475-2A>GPathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2026
NM_130849.4(SLC39A4):c.1224del (p.Leu410fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2026β†’ Residue 410
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2026β†’ Residue 401
NM_130849.4(SLC39A4):c.192+19G>APathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025
NM_130849.4(SLC39A4):c.295G>A (p.Ala99Thr)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_130849.4(SLC39A4):c.976+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025
NM_130849.4(SLC39A4):c.1763G>A (p.Trp588Ter)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025β†’ Residue 588
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)Likely pathogenic
Hereditary acrodermatitis enteropathica|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_130849.4(SLC39A4):c.1396dup (p.His466fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025β†’ Residue 466
NM_130849.4(SLC39A4):c.193-2A>GLikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025
NM_130849.4(SLC39A4):c.89_99del (p.Ser30fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025β†’ Residue 30
NM_130849.4(SLC39A4):c.1149+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)Pathogenic
Hereditary acrodermatitis enteropathica|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 95
NM_130849.4(SLC39A4):c.1287+2T>CLikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2025
NM_130849.4(SLC39A4):c.1174_1195del (p.Glu392fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2024β†’ Residue 392
NM_130849.4(SLC39A4):c.1066dup (p.Val356fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2024β†’ Residue 356
NM_130849.4(SLC39A4):c.1386del (p.Lys463fs)Pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2024β†’ Residue 463
NM_130849.4(SLC39A4):c.1287+1G>ALikely pathogenic
not provided|Hereditary acrodermatitis enteropathica
β˜…β˜…β˜†β˜†2024
View on ClinVar β†—
Related Genes
SLC30A4Protein interaction96%SLC39A1Protein interaction76%SLC39A6Shared pathway75%SLC30A2Protein interaction75%SLC39A9Protein interaction74%SLC30A1Protein interaction73%
Tissue Expression6 tissues
Ovary
100%
Lung
83%
Liver
52%
Bone Marrow
40%
Brain
30%
Heart
11%
Gene Interaction Network
Click a node to explore
SLC39A4SLC30A4SLC39A1SLC39A6SLC30A2SLC39A9SLC30A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P5W5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.26LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.80–1.26]
RankingsWhere SLC39A4 stands among ~20K protein-coding genes
  • #5,759of 20,598
    Most Researched83
  • #520of 5,498
    Most Pathogenic Variants146 Β· top 10%
  • #13,305of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedSLC39A4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Role of zinc in health and disease.
PMID: 38367035
Clin Exp Med Β· 2024
1.00
2
Zinc-Dependent Regulation of ZEB1 and YAP1 Coactivation Promotes Epithelial-Mesenchymal Transition Plasticity and Metastasis in Pancreatic Cancer.
PMID: 33421513
Gastroenterology Β· 2021
0.90
3
Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.
PMID: 31987033
BMC Pediatr Β· 2020
0.80
4
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
PMID: 19370757
Hum Mutat Β· 2009
0.70
5
Xenotransplanted human organoids identify transepithelial zinc transport as a key mediator of intestinal adaptation.
PMID: 39375337
Nat Commun Β· 2024
0.60