TMEM237

Chr 2AR

transmembrane protein 237

Also known as: ALS2CR4, JBTS14

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.251 OMIM phenotype
Clinical SummaryTMEM237
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Gene-Disease Validity (ClinGen)
Joubert syndrome 14 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.64
OE 0.86 (0.601.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.871.11)
189 obs / 192.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.601.25)
00.351.4
Missense OE?0.98 (0.871.11)
00.61.4
Synonymous OE?0.61
01.21.6
LoF obs/exp: 20 / 23.3Missense obs/exp: 189 / 192.7Syn Z: 2.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMEM237 · 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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