SLC38A12 Gene - Solute Carrier Family 38 Member 12
Comprehensive genomic and proteomic information for SLC38A12, including gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | SLC38A12 |
|---|---|
| Full Name | solute carrier family 38 member 12 |
| Gene Type | gene with protein product |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 54868 ncbi.nlm.nih.gov/gene/54868 |
| Ensembl ID | ENSG00000109066 |
| UniProt ID | Q8NE00 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25984 |
| Aliases | FLJ20255, FLJ00021, TMEM104 |
Description
SLC38A12 (solute carrier family 38 member 12) is a protein-coding gene located on chromosome 17q25.1. It belongs to the solute carrier family 38, which typically encodes amino acid transporters. However, the specific function of SLC38A12 is not fully characterized. It is also known by the aliases FLJ20255, FLJ00021, and TMEM104. The gene is expressed in various tissues, with notable expression in the kidney and liver. Mutations in SLC38A12 have been reported in cancer, but their functional consequences are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression and mutations may contribute to tumorigenesis, but exact mechanism is unclear. | COSMIC database lists somatic mutations in various cancers. |
| Kidney Disease | High expression in kidney suggests potential role in renal function, but direct disease association is not established. | Expression data from GTEx and Human Protein Atlas. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 10.1 | Medium |
| Testis | 8.3 | Low |
| Brain | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 6.3 | Low expression |
| MCF7 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.5% in COSMIC | Unknown |
| c.456C>T (p.R152*) | Nonsense | 0.2% in COSMIC | Likely loss of function |
| c.789_790insA (p.F263fs) | Frameshift | 0.1% in COSMIC | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Truncating mutations (nonsense, frameshift) are predicted to result in loss of function, potentially affecting amino acid transport if the protein is a transporter.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • integral component of membrane |
| • plasma membrane |
Pathways
• Amino acid transport
• Membrane trafficking
Protein Summary
The SLC38A12 protein is a predicted multi-pass membrane protein belonging to the SLC38 family of amino acid transporters. It is localized to the plasma membrane and may be involved in sodium-coupled amino acid transport. However, its substrate specificity and physiological role remain to be fully defined. The protein is expressed in kidney and liver, suggesting a role in amino acid homeostasis in these organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A12 Knockout HEK293 Cell Line | EDJ-KQ15004 | Human | 54868 | Details Get a Quote |
| SLC38A12 Knockout A-549 Cell Line | EDJ-KQ48977 | Human | 54868 | Details Get a Quote |
| SLC38A12 Knockout HCT 116 Cell Line | EDC07780 | Human | 54868 | Details Get a Quote |
| SLC38A12 Knockout HeLa Cell Line | EDJ-KQ48979 | Human | 54868 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
