ATP5MGL

Chr 22

ATP synthase membrane subunit g like

Also known as: ATP5K2, ATP5L2

NCBI Gene: 267020 ENSG00000249222 UniProt: Q7Z4Y8

This gene encodes a minor subunit of mitochondrial ATP synthase Complex V, which produces ATP from ADP using the proton gradient generated by the respiratory chain. The gene is not highly constrained against loss-of-function variants (pLI=0.0003, LOEUF=1.96), and no established human disease associations have been reported for ATP5MGL mutations. If pathogenic variants were identified, they would be expected to follow autosomal recessive inheritance given the low constraint scores.

ResearchSummary from RefSeq, UniProt

Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.96

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.96LOEUF

pLI 0.000

Z-score -1.84

OE 2.60 (0.83–1.96)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.14Z-score

OE missense 1.05 (0.85–1.31)

60 obs / 57.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?2.60 (0.83–1.96)

0≤0.351.4

Missense OE?1.05 (0.85–1.31)

0≤0.61.4

Synonymous OE?1.30

0≤1.21.6

LoF obs/exp: 4 / 1.5Missense obs/exp: 60 / 57.0Syn Z: -1.12

Background carrier burden — how many people carry a rare variant somewhere in ATP5MGL?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 410

136 rare PASS variants

Rare truncating (LoF)

1 in 1,100

26 rare PASS variants

Rare synonymous (reference)

1 in 480

59 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ATP5MGL; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,200	1 in 2,700
South Asian	~43k	1 in 370	1 in 780
Remaining (unassigned)	~30k	1 in 840	1 in 490
European (Finnish)	~27k	≈ 1 in 26,000	≈ 1 in 7,600
Admixed American	~22k	1 in 310	1 in 990
African / African American	~21k	1 in 320	1 in 960
East Asian	~20k	1 in 150	≈ 1 in 9,900
Middle Eastern	~2,884	1 in 360	≈ 1 in 960

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓