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SLC36A2

Synonyms
PAT2, TRAMD1
External resources
Summary
This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria.

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
18
Likely pathogenic
0
VUS
1,978
Likely benign
4,234
Benign
199

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on SLC36A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
61.1%
Abnormality of the ear
38.9%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
27.8%
Abnormality of the cardiovascular system
27.8%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the digestive system
16.7%
Abnormality of the integument
16.7%
Abnormality of limbs
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Abnormality of the respiratory system
5.6%
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 endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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