SLC22A31 Gene - Solute Carrier Family 22 Member 31
Comprehensive resource for SLC22A31 gene, including genomic information, expression, and potential implications in health and disease.
Gene Information Card
| Symbol | SLC22A31 |
|---|---|
| Full Name | solute carrier family 22 member 31 |
| Gene Type | gene with protein product |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 146429 ncbi.nlm.nih.gov/gene/146429 |
| Ensembl ID | ENSG00000259803 |
| UniProt ID | A6NKX4 |
| OMIM ID | Not available |
| HGNC ID | HGNC:27091 |
| Aliases | Not available |
Description
SLC22A31 (solute carrier family 22 member 31) is a protein-coding gene located on chromosome 16q24.3. It belongs to the solute carrier family 22, which typically encodes organic cation/anion transporters. The protein product is predicted to be a transmembrane transporter, though its specific substrates and physiological functions are not yet fully characterized. SLC22A31 is expressed in various tissues, with notable expression in the kidney and liver, suggesting a potential role in drug transport and metabolism. Further research is needed to elucidate its exact functions and clinical relevance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No disease associations have been confirmed for SLC22A31. | No evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.2 | Medium |
| Liver | 5.1 | Low |
| Testis | 3.4 | Low |
| Lung | 2.0 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression in kidney-derived cell line |
| HepG2 | 6.3 | Moderate expression in liver cancer cell line |
| A549 | 1.2 | Low expression in lung carcinoma cell line |
| MCF7 | 0.5 | Very low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143436118 | Missense | 0.1% (gnomAD) | Unknown effect; predicted benign by in silico tools |
| rs201430590 | Synonymous | 0.05% (gnomAD) | No amino acid change; likely no effect |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported for SLC22A31.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC22A31.
Dominant Negative (DN)
No dominant-negative mutations have been reported for SLC22A31.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane transport | • integral component of membrane |
| • organic cation transport |
Protein Summary
The SLC22A31 protein is predicted to be a multi-pass membrane protein belonging to the major facilitator superfamily. It likely functions as a transporter, possibly involved in the movement of organic cations or anions across cell membranes. Its expression in kidney and liver suggests a role in renal and hepatic clearance of endogenous compounds or xenobiotics. However, the exact substrates and physiological functions remain to be determined experimentally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A31 Knockout HEK293 Cell Line | EDJ-KQ10477 | Human | 146429 | Details Get a Quote |
| SLC22A31 Knockout HCT 116 Cell Line | EDJ-KQ36582 | Human | 146429 | Details Get a Quote |
| SLC22A31 Knockout HeLa Cell Line | EDJ-KQ58545 | Human | 146429 | Details Get a Quote |
| SLC22A31 Knockout A-549 Cell Line | EDJ-KQ67035 | Human | 146429 | Details Get a Quote |
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