SLC2A9

Chr 4ADAR

solute carrier family 2 member 9

Also known as: GLUT9, GLUTX, UAQTL2, URATv1

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. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Uric acid concentration, serum, QTL 2}MIM #612076
ADAR
Hypouricemia, renal, 2MIM #612076
ADAR
UniProtHypouricemia renal 2
0
Active trials
40
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.05
OE 0.76 (0.521.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.02 (0.931.12)
305 obs / 299.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.521.14)
00.351.4
Missense OE?1.02 (0.931.12)
00.61.4
Synonymous OE?1.21
01.21.6
LoF obs/exp: 17 / 22.4Missense obs/exp: 305 / 299.0Syn Z: -1.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC2A9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →