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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC39A12
solute carrier family 39 member 12
Chromosome 10 · 10p12.33
NCBI Gene: 221074Ensembl: ENSG00000148482.13HGNC: HGNC:20860UniProt: Q504Y0
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular vesicleneuron projection extensionplasma membranemonoatomic cation:bicarbonate symporter activityhypertensionmathematical abilityedemaenteritis
✦AI Summary

SLC39A12 encodes ZIP12, a zinc transporter that mediates zinc influx across the plasma membrane 1. As a uniporter, ZIP12 functions in intracellular zinc homeostasis and contains conserved motifs suggesting regulated cellular trafficking 2. The transporter is highly expressed in the vertebrate nervous system and is essential for neural tube closure and neurite outgrowth during embryogenesis 13. SLC39A12 is implicated in multiple neurological conditions. Elevated cortical SLC39A12 mRNA expression occurs in schizophrenia patients, suggesting dysregulated zinc homeostasis 45. Recent transcriptome-wide association studies identify SLC39A12 as a candidate gene underlying nigrostriatal iron accumulation and overlap with Parkinson's disease pathology 6. Genome-wide association studies link SLC39A12 polymorphisms to brain susceptibility-weighted MRI intensity, potentially connecting the transporter to neurodegenerative diseases including Parkinson's and Alzheimer's disease 1. Additionally, SLC39A12 influences functional brain connectivity, contributing to neurodevelopmental and cognitive traits 7. Outside the nervous system, hypoxia-induced ZIP12 upregulation drives smooth muscle proliferation in pulmonary arterioles, contributing to pulmonary hypertension pathophysiology 8. These findings position SLC39A12 as a potential therapeutic target for neuropsychiatric and pulmonary diseases involving impaired metal homeostasis.

Sources cited
1
ZIP12 functions as a zinc transporter in the nervous system, required for neural tube closure and neurite outgrowth; associated with brain MRI intensity and psychiatric diseases
PMID: 34252531
2
ZIP12 is a conserved zinc transporter present in vertebrate genomes with putative intracellular trafficking motifs
PMID: 25375179
3
ZIP12 is essential for neural tube development, neuronal differentiation, neurite outgrowth, and embryonic viability
PMID: 24567773
4
SLC39A12 mRNA is elevated in multiple cortical regions in schizophrenia and mediates increased zinc uptake
PMID: 27336053
5
SLC39A12 expression levels are higher in schizophrenia patients and correlate with CNS pH and suicide completion status
PMID: 39024742
6
SLC39A12 is identified as a replicable gene associated with nigrostriatal iron accumulation and overlaps with Parkinson's disease pathology
PMID: 41380477
7
SLC39A12 is one of five genes influencing functional brain connectivity with associations to neurodevelopment and cognitive traits
PMID: 41735316
8
ZIP12 expression increases in pulmonary vascular cells under hypoxia and regulates smooth muscle proliferation in pulmonary hypertension
PMID: 26258299
Disease Associationsⓘ20
hypertensionOpen Targets
0.44Moderate
mathematical abilityOpen Targets
0.40Weak
edemaOpen Targets
0.30Weak
enteritisOpen Targets
0.30Weak
brain compressionOpen Targets
0.29Weak
squamous cell carcinomaOpen Targets
0.28Weak
device complicationOpen Targets
0.27Weak
liver diseaseOpen Targets
0.25Weak
sleep apneaOpen Targets
0.20Weak
response to xenobiotic stimulusOpen Targets
0.15Weak
diabetic ketoacidosisOpen Targets
0.13Weak
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
Varicose veinsOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.03Suggestive
autism spectrum disorderOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC30A2Protein interaction76%SLC30A6Protein interaction76%SLC39A1Protein interaction58%SLC39A11Protein interaction58%SLC39A10Shared pathway57%SLC39A4Shared pathway57%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SLC39A12SLC30A2SLC30A6SLC39A1SLC39A11SLC39A10SLC39A4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q504Y0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.72–1.11]
RankingsWhere SLC39A12 stands among ~20K protein-coding genes
  • #15,691of 20,598
    Most Researched15
  • #11,385of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedSLC39A12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A role for zinc transporter gene SLC39A12 in the nervous system and beyond.
PMID: 34252531
Gene · 2021
1.00
2
Identification of genes underlying nigrostriatal iron accumulation: transcriptome-wide association study of iron-sensitive brain MRI.
PMID: 41380477
EBioMedicine · 2026
0.90
3
Changes in levels of the zinc transporter SLC39A12 in Brodmann's area 44: Effects of sex, suicide, CNS pH and schizophrenia.
PMID: 39024742
J Psychiatr Res · 2024
0.80
4
Comparative genomic analysis of slc39a12/ZIP12: insight into a zinc transporter required for vertebrate nervous system development.
PMID: 25375179
PLoS One · 2014
0.70
5
Increased cortical expression of the zinc transporter SLC39A12 suggests a breakdown in zinc cellular homeostasis as part of the pathophysiology of schizophrenia.
PMID: 27336053
NPJ Schizophr · 2016
0.60