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…

DNmechanismLOEUF 1.45

Clinical Summary— TMEM44

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

88 VUS of 122 total submissions

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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

This gene — mechanism propensity

0.6161th %ile

GOF

0.5953th %ile

LOF

0.4037th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

122 submitted variants in ClinVar

ClinVar

Classification Summary

VUS88

Likely Benign9

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	87	0	88
Likely Benign	0	8	1	9
Benign	0	0	0	0
Total	1	95	1	97

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

38 pathogenic / likely-pathogenic (of 45) ClinVar copy-number / structural variants overlap TMEM44 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →