SLC7A9 Chromosome 19
Solute carrier family 7 member 9
Upload your DNA to see your personal genotypes for variants in SLC7A9.
What This Gene Does
This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
Solute carrier family 7
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000021488
Associated Conditions (15)
Cystinuria
SLC7A9-related disorder
Hepatocellular carcinoma
Cervical cancer
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Sarcoma
Gastric cancer
Thyroid cancer
nonmedullary
1
Melanoma
Bethlem myopathy 1A
Inborn genetic diseases
Cystine urolithiasis
Key Variants
RS121908487
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS138156402
Conflicting classifications of pathogenicity
SLC7A9-related disorder, Cystinuria, Cystinuria
Health Risk
RS138744722
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS139388814
Conflicting classifications of pathogenicity
Cystinuria, SLC7A9-related disorder, Cystinuria
Health Risk
RS140179068
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS140873167
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS141142633
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS142721539
Conflicting classifications of pathogenicity
Cystinuria, SLC7A9-related disorder, Cystinuria
Health Risk
RS142766345
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS144616352
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS144880180
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS146682721
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2513617524 | Health Risk | Likely pathogenic | SLC7A9-related disorder, SLC7A9-related disorder |
| RS748402420 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS750849536 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS753121162 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS766981518 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS769448665 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS779653925 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS988712826 | Health Risk | Likely pathogenic | Cystinuria, Cystinuria |
| RS1007096305 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS121908479 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS121908485 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS146815072 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS1568530415 | Health Risk | Pathogenic | Cystine urolithiasis, Cystine urolithiasis |
| RS1968693380 | Health Risk | Pathogenic | — |
| RS1968819398 | Health Risk | Pathogenic | — |
| RS1968829014 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS2145788754 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS2145794314 | Health Risk | Pathogenic | — |
| RS2145843027 | Health Risk | Pathogenic | — |
| RS2145847207 | Health Risk | Pathogenic | — |
| RS2513608437 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS2513609715 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS2513609886 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS2513617759 | Health Risk | Pathogenic | — |
| RS555734325 | Health Risk | Pathogenic | — |
| RS745319034 | Health Risk | Pathogenic | Cystinuria, SLC7A9-related disorder, Cystinuria |
| RS753692696 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS755715459 | Health Risk | Pathogenic | Cystine urolithiasis, Cystinuria, Cystine urolithiasis |
| RS760264924 | Health Risk | Pathogenic | Cystine urolithiasis, Cystine urolithiasis |
| RS760452532 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS774124697 | Health Risk | Pathogenic | Cystinuria, Cystinuria |
| RS121908480 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, SLC7A9-related disorder, Cystinuria |
| RS121908482 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |
| RS121908484 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, SLC7A9-related disorder, Cystinuria |
| RS1394513127 | Health Risk | Pathogenic/Likely pathogenic | SLC7A9-related disorder, SLC7A9-related disorder |
| RS1599688589 | Health Risk | Pathogenic/Likely pathogenic | Cystine urolithiasis, Cystinuria, Cystine urolithiasis |
| RS1967855547 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |
| RS372306844 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |
| RS753324280 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |
| RS770340227 | Health Risk | Pathogenic/Likely pathogenic | — |