Home > Gene Browser > SLC2A9

SLC2A9

Synonyms
GLUT9, GLUTX, UAQTL2, URATv1
External resources
Summary
This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene.

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
24
Likely pathogenic
1
VUS
3,260
Likely benign
2,803
Benign
6

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on SLC2A9 gene are displayed below. The following symptoms were found in patients with a variant in SLC2A9. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the eye
35%
Abnormality of the musculoskeletal system
35%
Abnormality of the cardiovascular system
30%
Abnormality of head or neck
25%
Abnormality of the ear
20%
Abnormality of the integument
15%
Growth abnormality
15%
Abnormality of limbs
10%
Abnormality of the immune system
10%
Abnormality of blood and blood forming tissues
5%
Abnormality of the breast
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Abnormality of the respiratory system
5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.