SLC39A12: Solute Carrier Family 39 Member 12
Zinc transporter implicated in neurodevelopment and psychiatric disorders
Gene Information Card
| Symbol | SLC39A12 |
|---|---|
| Full Name | Solute Carrier Family 39 Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 221074 ncbi.nlm.nih.gov/gene/221074 |
| Ensembl ID | ENSG00000148408 |
| UniProt ID | Q6P9A1 |
| OMIM ID | 608740 |
| HGNC ID | 29618 |
| Aliases | ZIP12, LZT-Hs8, FLJ33807 |
Description
SLC39A12 (ZIP12) encodes a member of the ZIP (Zrt- and Irt-like) family of zinc transporters. It is highly expressed in the brain, particularly in neurons, and is involved in zinc uptake into the cytoplasm. Zinc is essential for neurodevelopment, synaptic plasticity, and neuronal signaling. Variants in SLC39A12 have been associated with autism spectrum disorder and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | Impaired zinc transport may disrupt neuronal development and synaptic function | Association studies (PMID: 21886163, 23453885) |
| Schizophrenia | Altered zinc homeostasis affecting glutamatergic signaling | GWAS and expression studies (PMID: 21926972, 25642632) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 6.1 | Low |
| Spinal cord | 4.2 | Low |
| Adrenal gland | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.7 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2234632 (c.1075G>A, p.Gly359Ser) | Missense | 0.02 (ExAC) | Unknown; predicted benign |
| rs11190380 (intronic) | Intronic | 0.15 (1000 Genomes) | Associated with schizophrenia risk |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare truncating variants may reduce zinc uptake
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • zinc ion transmembrane transporter activity (GO:0005385) | • zinc ion transmembrane transport (GO:0071577) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Metal ion SLC transporters (Reactome: R-HSA-425393)
Protein Summary
SLC39A12 (ZIP12) is a 9-transmembrane domain protein that localizes to the plasma membrane and transports zinc from the extracellular space into the cytoplasm. It is predominantly expressed in the brain, where it regulates zinc levels critical for neuronal differentiation, neurite outgrowth, and synaptic function. Dysregulation of ZIP12 has been linked to neurodevelopmental and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A12 Knockout HEK293 Cell Line | EDJ-KQ8797 | Human | 221074 | Details Get a Quote |
| SLC39A12 Knockout HeLa Cell Line | EDJ-KQ59151 | Human | 221074 | Details Get a Quote |
| SLC39A12 Knockout A-549 Cell Line | EDJ-KQ67625 | Human | 221074 | Details Get a Quote |
| SLC39A12 Knockout HCT 116 Cell Line | EDJ-KQ76010 | Human | 221074 | Details Get a Quote |
