SLC26A7

Chr 8

solute carrier family 26 member 7

Also known as: SUT2

This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.81
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 2.48
OE 0.55 (0.390.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.911.09)
351 obs / 351.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.390.81)
00.351.4
Missense OE?1.00 (0.911.09)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 20 / 36.1Missense obs/exp: 351 / 351.6Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC26A7 · 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.

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