GLYATL2

Chr 11

glycine-N-acyltransferase like 2

Also known as: BXMAS2-10, GATF-B

NCBI Gene: 219970 ENSG00000156689 UniProt: Q8WU03

Enables glycine N-acyltransferase activity. Involved in long-chain fatty acid catabolic process; medium-chain fatty acid catabolic process; and monounsaturated fatty acid catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.65

LOEUF

—

Mechanism

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?

1.65LOEUF

pLI 0.000

Z-score 0.08

OE 0.97 (0.58–1.65)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.47Z-score

OE missense 1.11 (0.97–1.26)

165 obs / 148.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.97 (0.58–1.65)

0≤0.351.4

Missense OE?1.11 (0.97–1.26)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 9 / 9.3Missense obs/exp: 165 / 148.9Syn Z: 1.26

Background carrier burden — how many people carry a rare variant somewhere in GLYATL2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

399 rare PASS variants

Rare truncating (LoF)

1 in 1,800

71 rare PASS variants

Rare synonymous (reference)

1 in 290

125 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GLYATL2. 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 230	1 in 2,300
South Asian	~43k	1 in 96	1 in 3,800
Remaining (unassigned)	~30k	1 in 110	1 in 2,000
European (Finnish)	~27k	1 in 440	1 in 2,700
Admixed American	~22k	1 in 66	1 in 310
African / African American	~21k	1 in 95	1 in 530
East Asian	~20k	1 in 290	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 920	none seen
Middle Eastern	~2,884	1 in 87	≈ 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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓