SLC22A14
Solute Carrier Family 22 Member 14
Gene Information Card
| Symbol | SLC22A14 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 5000 ncbi.nlm.nih.gov/gene/5000 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9Y267 |
| OMIM ID | 604049 |
| HGNC ID | 10972 |
| Aliases | OCTL2, OCTL3, FLJ20171 |
Description
SLC22A14 encodes a member of the solute carrier family 22 (organic cation transporter) family. The protein is predicted to function as an organic cation transporter, involved in the transport of small organic cations across cellular membranes. Expression is enriched in testis and kidney, suggesting a role in male fertility and renal transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered transporter function affecting spermatogenesis | PMID: 12368206 |
| Renal transport disorders | Potential role in organic cation handling | NCBI Gene summary |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 2.1 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.2 | Low expression |
| HepG2 | 1.8 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.001 | Unknown functional effect |
| c.567delA | Frameshift | 0.0005 | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of transporter function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • antiporter activity (GO:0015297) |
| • integral component of membrane (GO:0016021) | • transmembrane transport (GO:0055085) |
Pathways
• Organic cation transport (Reactome: R-HSA-549127)
Protein Summary
SLC22A14 is a 551-amino acid transmembrane protein with 12 predicted alpha-helical domains, characteristic of the major facilitator superfamily. It functions as an organic cation transporter, likely mediating the uptake of endogenous and exogenous cations. Expression is highest in testis and kidney, with potential roles in spermatogenesis and renal secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A14 Knockout HEK293 Cell Line | EDJ-KQ6571 | Human | 9389 | Details Get a Quote |
| SLC22A14 Knockout HeLa Cell Line | EDJ-KQ55150 | Human | 9389 | Details Get a Quote |
| SLC22A14 Knockout A-549 Cell Line | EDJ-KQ63630 | Human | 9389 | Details Get a Quote |
| SLC22A14 Knockout HCT 116 Cell Line | EDJ-KQ72093 | Human | 9389 | Details Get a Quote |
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