Entity Details
| Primary name |
SLC36A2 |
| Entity type |
gene |
| Source |
Source Link |
Details
| PrimaryID | 153201 |
| RefseqGene | NG_027745 |
| Symbol | SLC36A2 |
| Name | solute carrier family 36 member 2 |
| Chromosome | 5 |
| Location | 5q33.1 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2002-01-23 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 138500 | OMIM | Hyperglycinuria (HG) | A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. The disease is caused by variants affecting the gene represented in this entry. |
| 242600 | OMIM | Iminoglycinuria (IG) | A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families. |
Interactions
1 interaction