SLC34A2 Chromosome 4
Solute carrier family 34 member 2
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What This Gene Does
The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Solute carrier family 34
Locus Type
gene with protein product
Location
4p15.2
Ensembl
ENSG00000157765
Associated Conditions (3)
PULMONARY ALVEOLAR MICROLITHIASIS
Lung cancer
Hereditary breast ovarian cancer syndrome
Key Variants
RS191211377
Conflicting classifications of pathogenicity
PULMONARY ALVEOLAR MICROLITHIASIS, Lung cancer, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS137853142
Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS1714268814
Likely pathogenic
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS2474777637
Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS777320214
Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS137853141
Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS2109057310
Pathogenic
Health Risk
RS2474744592
Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS2474755725
Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
RS757175092
Pathogenic
Health Risk
RS766735856
Pathogenic
Health Risk
RS796065044
Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS191211377 | Health Risk | Conflicting classifications of pathogenicity | PULMONARY ALVEOLAR MICROLITHIASIS, Lung cancer, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS137853142 | Health Risk | Likely pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS1714268814 | Health Risk | Likely pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2474777637 | Health Risk | Likely pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS777320214 | Health Risk | Likely pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS137853141 | Health Risk | Pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS2109057310 | Health Risk | Pathogenic | — |
| RS2474744592 | Health Risk | Pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS2474755725 | Health Risk | Pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |
| RS757175092 | Health Risk | Pathogenic | — |
| RS766735856 | Health Risk | Pathogenic | — |
| RS796065044 | Health Risk | Pathogenic | PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS |