Home > Gene Browser > SLC17A4

SLC17A4

Synonyms
KAIA2138
External resources
Summary
Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
32
Likely pathogenic
52
VUS
1,469
Likely benign
443
Benign
0

Patient phenotypes

Proportions of phenotypes among 78 patients carring pathogenic or likely pathogenic variants on SLC17A4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
48.7%
Abnormality of the nervous system
37.2%
Abnormality of the musculoskeletal system
23.1%
Abnormality of head or neck
11.5%
Abnormality of the integument
10.3%
Growth abnormality
9%
Abnormality of the digestive system
7.7%
Abnormality of limbs
6.4%
Abnormality of the cardiovascular system
6.4%
Abnormality of the endocrine system
5.1%
Abnormality of the immune system
5.1%
Neoplasm
5.1%
Abnormality of the ear
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the respiratory system
2.6%
Abnormal cellular phenotype
1.3%
Constitutional symptom
1.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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