TEX44

Chr 2

testis expressed 44

Also known as: C2orf57

NCBI Gene: 165100ENSG00000177673UniProt: Q53QW1

Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.097
Z-score 0.10
OE 0.90 (0.25–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.95 (0.84–1.06)
213 obs / 225.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.25–1.88)
0≤0.351.4
Missense OE?0.95 (0.84–1.06)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 213 / 225.3Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TEX44 · 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