TMEM272

Chr 13

transmembrane protein 272

Also known as: LINC00282, NCRNA00282

NCBI Gene: 283521 ENSG00000281106 UniProt: A0A1B0GTI8

TMEM272 encodes a protein predicted to be located in cellular membranes. Mutations in TMEM272 cause autosomal recessive neurodevelopmental disorder with hypotonia, seizures, and brain abnormalities. The inheritance pattern is autosomal recessive with onset in infancy or early childhood affecting primarily the central nervous system.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TMEM272?

gnomAD v4 · ~275k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

197 rare PASS variants

Rare truncating (LoF)

1 in 400

36 rare PASS variants

Rare synonymous (reference)

1 in 260

65 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TMEM272; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~158k	1 in 270	1 in 700
South Asian	~31k	1 in 120	1 in 2,100
African / African American	~21k	1 in 190	1 in 760
Admixed American	~17k	1 in 240	1 in 410
European (Finnish)	~17k	1 in 2,800	1 in 2,100
East Asian	~16k	1 in 300	≈ 1 in 8,000
Remaining (unassigned)	~15k	1 in 210	1 in 320
Ashkenazi Jewish	~10k	≈ 1 in 2,500	none seen
Middle Eastern	~2,038	1 in 190	≈ 1 in 2,000

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): 0 of 4 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5 poorly covered. Genomes: all 4.? see exons ↓