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SLC34A2

Synonyms
NAPI-3B, NAPI-IIb, NPTIIb, PULAM
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
20,380
Likely benign
9,871
Benign
66

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on SLC34A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
46.2%
Abnormality of head or neck
30.8%
Abnormality of the eye
30.8%
Abnormality of the nervous system
30.8%
Growth abnormality
30.8%
Abnormality of limbs
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the ear
15.4%
Abnormality of the integument
15.4%
Abnormality of prenatal development or birth
7.7%
Abnormality of the immune system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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