TMEM207

Chr 3

transmembrane protein 207

Also known as: UNQ846

NCBI Gene: 131920 ENSG00000198398 UniProt: Q6UWW9 OMIM: 614786

Located in early endosome membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Located in early endosome membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.95LOEUF

pLI 0.000

Z-score -1.62

OE 1.62 (1.00–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.47Z-score

OE missense 1.15 (0.97–1.37)

90 obs / 78.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.62 (1.00–1.95)

0≤0.351.4

Missense OE?1.15 (0.97–1.37)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 13 / 8.0Missense obs/exp: 90 / 78.4Syn Z: -0.07

Background carrier burden — how many people carry a rare variant somewhere in TMEM207?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

216 rare PASS variants

Rare truncating (LoF)

1 in 1,700

46 rare PASS variants

Rare synonymous (reference)

1 in 380

73 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM207. 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 350	1 in 3,600
South Asian	~43k	1 in 160	1 in 510
Remaining (unassigned)	~30k	1 in 140	1 in 790
European (Finnish)	~27k	1 in 570	1 in 4,400
Admixed American	~22k	1 in 220	1 in 980
African / African American	~21k	1 in 230	1 in 2,600
East Asian	~20k	1 in 220	1 in 2,800
Ashkenazi Jewish	~13k	1 in 1,600	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 220	≈ 1 in 720

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 ↓