TEX29

Chr 13

testis expressed 29

Also known as: C13orf16, bA474D23.1

NCBI Gene: 121793 ENSG00000153495 UniProt: Q8N6K0

TEX29 encodes a protein predicted to be located in cellular membranes, though its specific function remains unclear. The gene is highly constrained against loss-of-function variants (pLI ~1.0), suggesting it is essential for normal cellular function, but no definitive disease associations have been established in humans. Further research is needed to determine if TEX29 mutations cause pediatric neurological disorders.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.65

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.65LOEUF

pLI 0.000

Z-score 0.15

OE 0.94 (0.55–1.65)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.39Z-score

OE missense 0.89 (0.74–1.06)

84 obs / 94.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.55–1.65)

0≤0.351.4

Missense OE?0.89 (0.74–1.06)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 8 / 8.5Missense obs/exp: 84 / 94.6Syn Z: -0.26

Background carrier burden — how many people carry a rare variant somewhere in TEX29?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

213 rare PASS variants

Rare truncating (LoF)

1 in 1,900

56 rare PASS variants

Rare synonymous (reference)

1 in 210

90 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TEX29. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 270	1 in 2,000
South Asian	~43k	1 in 260	1 in 650
Remaining (unassigned)	~30k	1 in 170	1 in 2,100
European (Finnish)	~27k	1 in 580	≈ 1 in 8,100
Admixed American	~22k	1 in 260	1 in 1,800
African / African American	~21k	1 in 170	≈ 1 in 17,000
East Asian	~20k	1 in 290	1 in 1,700
Ashkenazi Jewish	~13k	1 in 880	≈ 1 in 13,000
Middle Eastern	~2,884	≈ 1 in 720	≈ 1 in 710

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 5 coding exons well covered in gnomAD exomes. Genomes: 4 of 5 (exon 2 below).? see exons ↓