ATP5MG

Chr 11

ATP synthase membrane subunit g

Also known as: ATP5JG, ATP5L

NCBI Gene: 10632 ENSG00000167283 UniProt: O75964

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

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?

1.55LOEUF

pLI 0.004

Z-score 0.66

OE 0.70 (0.34–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.21Z-score

OE missense 0.92 (0.74–1.16)

53 obs / 57.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.34–1.55)

0≤0.351.4

Missense OE?0.92 (0.74–1.16)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 4 / 5.7Missense obs/exp: 53 / 57.5Syn Z: -0.69

Background carrier burden — how many people carry a rare variant somewhere in ATP5MG?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 620

174 rare PASS variants

Rare truncating (LoF)

1 in 4,000

39 rare PASS variants

Rare synonymous (reference)

1 in 360

75 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ATP5MG. 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 690	1 in 4,600
South Asian	~43k	1 in 430	1 in 1,500
Remaining (unassigned)	~30k	1 in 1,000	1 in 4,200
European (Finnish)	~27k	1 in 3,300	≈ 1 in 17,000
Admixed American	~22k	1 in 560	≈ 1 in 4,600
African / African American	~21k	1 in 330	1 in 3,200
East Asian	~20k	1 in 260	1 in 1,700
Ashkenazi Jewish	~13k	1 in 500	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 500	≈ 1 in 2,900

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