TCEAL2

Chr X

transcription elongation factor A like 2

Also known as: MY0876G05, WEX1, my048

The protein functions as a nuclear phosphoprotein that modulates transcription in a promoter context-dependent manner. Mutations in this X-linked gene have not been definitively associated with human disease. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.81
LOEUF
Mechanism
Clinical SummaryTCEAL2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.81LOEUF
pLI 0.351
Z-score 0.74
OE 0.00 (0.001.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.12Z-score
OE missense 0.96 (0.801.16)
80 obs / 83.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.81)
00.351.4
Missense OE0.96 (0.801.16)
00.61.4
Synonymous OE1.39
01.21.6
LoF obs/exp: 0 / 0.6Missense obs/exp: 80 / 83.0Syn Z: -1.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TCEAL2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗