SLC16A7

Chr 12

solute carrier family 16 member 7

Also known as: MCT2

This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
0.83
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?
0.83LOEUF
pLI 0.006
Z-score 2.04
OE 0.42 (0.230.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.28Z-score
OE missense 0.95 (0.861.06)
246 obs / 258.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.230.83)
00.351.4
Missense OE?0.95 (0.861.06)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 6 / 14.3Missense obs/exp: 246 / 258.6Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC16A7 · 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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