TRMT112

Chr 11

tRNA methyltransferase activator subunit 11-2

Also known as: HSPC152, HSPC170, TRM112, TRMT11-2, hTrm112

NCBI Gene: 51504 ENSG00000173113 UniProt: Q9UI30 OMIM: 618630

This protein acts as an activator of multiple methyltransferases involved in ribosomal RNA, transfer RNA, and protein methylation, functioning as an essential cofactor for proper ribosome biogenesis and protein synthesis. Mutations in TRMT112 cause autosomal recessive intellectual disability with microcephaly and growth retardation. Affected individuals typically present in early childhood with developmental delays and failure to thrive.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein heterodimerization activity; protein methyltransferase activity; and tRNA methyltransferase activator activity. Involved in RNA metabolic process; peptidyl-glutamine methylation; and positive regulation of rRNA processing. Located in nucleoplasm and perinuclear region of cytoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.09LOEUF

pLI 0.139

Z-score 1.45

OE 0.35 (0.14–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.93Z-score

OE missense 1.30 (1.10–1.55)

96 obs / 73.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.35 (0.14–1.09)

0≤0.351.4

Missense OE?1.30 (1.10–1.55)

0≤0.61.4

Synonymous OE?1.27

0≤1.21.6

LoF obs/exp: 2 / 5.7Missense obs/exp: 96 / 73.6Syn Z: -1.18

Background carrier burden — how many people carry a rare variant somewhere in TRMT112?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 650

206 rare PASS variants

Rare truncating (LoF)

1 in 6,200

33 rare PASS variants

Rare synonymous (reference)

1 in 830

70 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRMT112. 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 700	1 in 4,900
South Asian	~43k	1 in 890	1 in 8,400
Remaining (unassigned)	~30k	1 in 730	≈ 1 in 7,500
European (Finnish)	~27k	1 in 890	≈ 1 in 13,000
Admixed American	~22k	1 in 310	≈ 1 in 11,000
African / African American	~21k	1 in 410	1 in 4,100
East Asian	~20k	1 in 360	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 2,600	none seen
Middle Eastern	~2,884	≈ 1 in 720	none seen

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 4 marginal. Genomes: all 4.? see exons ↓