TMEM237

Chr 2

transmembrane protein 237

Also known as: ALS2CR4, JBTS14

NCBI Gene: 65062ENSG00000155755UniProt: Q96Q45

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 14

Clinical highlights

Gene-disease validity (ClinGen)
Joubert syndrome 14 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
LOF
Mechanism· G2P
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GeneReview available — TMEM237
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.64
OE 0.86 (0.60–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.87–1.11)
189 obs / 192.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.60–1.25)
0≤0.351.4
Missense OE?0.98 (0.87–1.11)
0≤0.61.4
Synonymous OE?0.61
0≤1.21.6
LoF obs/exp: 20 / 23.3Missense obs/exp: 189 / 192.7Syn Z: 2.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients