TLCD5

Chr 11

TLC domain containing 5

Also known as: TMEM136

NCBI Gene: 219902 ENSG00000181264 UniProt: Q6ZRR5

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

Research

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

1.08

LOEUF

Multiple*

Mechanism· predicted

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?

1.08LOEUF

pLI 0.005

Z-score 1.41

OE 0.51 (0.27–1.08)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.36Z-score

OE missense 0.92 (0.80–1.06)

141 obs / 153.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.51 (0.27–1.08)

0≤0.351.4

Missense OE?0.92 (0.80–1.06)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 5 / 9.7Missense obs/exp: 141 / 153.5Syn Z: 1.33

Background carrier burden — how many people carry a rare variant somewhere in TLCD5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

329 rare PASS variants

Rare truncating (LoF)

1 in 1,900

50 rare PASS variants

Rare synonymous (reference)

1 in 940

120 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TLCD5. 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 190	1 in 2,900
South Asian	~43k	1 in 100	1 in 1,000
Remaining (unassigned)	~30k	1 in 120	1 in 1,400
European (Finnish)	~27k	1 in 700	≈ 1 in 27,000
Admixed American	~22k	1 in 92	≈ 1 in 5,700
African / African American	~21k	1 in 170	1 in 2,600
East Asian	~20k	1 in 220	1 in 2,200
Ashkenazi Jewish	~13k	1 in 1,900	1 in 1,700
Middle Eastern	~2,884	1 in 190	≈ 1 in 1,400

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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓