TMEM44

Chr 3

transmembrane protein 44

NCBI Gene: 93109 ENSG00000145014 UniProt: Q2T9K0

Predicted to enable basic amino acid transmembrane transporter activity. Predicted to be involved in basic amino acid transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.45

LOEUF

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?

1.45LOEUF

pLI 0.000

Z-score -0.09

OE 1.02 (0.73–1.45)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.30Z-score

OE missense 1.05 (0.95–1.16)

273 obs / 259.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.02 (0.73–1.45)

0≤0.351.4

Missense OE?1.05 (0.95–1.16)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 23 / 22.5Missense obs/exp: 273 / 259.4Syn Z: -0.83

Background carrier burden — how many people carry a rare variant somewhere in TMEM44?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

710 rare PASS variants

Rare truncating (LoF)

1 in 240

156 rare PASS variants

Rare synonymous (reference)

1 in 120

287 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM44. 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 52	1 in 380
South Asian	~43k	1 in 51	1 in 480
Remaining (unassigned)	~30k	1 in 40	1 in 140
European (Finnish)	~27k	1 in 140	1 in 3,500
Admixed American	~22k	1 in 54	1 in 160
African / African American	~21k	1 in 44	1 in 700
East Asian	~20k	1 in 56	1 in 520
Ashkenazi Jewish	~13k	1 in 200	1 in 1,600
Middle Eastern	~2,884	1 in 46	1 in 250

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓