TSPAN11

Chr 12

tetraspanin 11

Also known as: VSSW1971

NCBI Gene: 441631 ENSG00000110900 UniProt: A1L157 OMIM: 621013

TSPAN11 encodes a membrane protein that facilitates focal adhesion assembly to regulate osteoblast alignment and guide bone matrix formation orthogonally to cell orientation. Mutations cause autosomal recessive osteogenesis imperfecta, a bone fragility disorder characterized by fractures, bone deformity, and skeletal abnormalities. The gene shows low constraint against loss-of-function variants (pLI near 0), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in focal adhesion assembly. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.29

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.29LOEUF

pLI 0.000

Z-score 0.76

OE 0.78 (0.49–1.29)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.06Z-score

OE missense 0.99 (0.86–1.13)

156 obs / 158.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.78 (0.49–1.29)

0≤0.351.4

Missense OE?0.99 (0.86–1.13)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 11 / 14.1Missense obs/exp: 156 / 158.3Syn Z: 0.68

Background carrier burden — how many people carry a rare variant somewhere in TSPAN11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

308 rare PASS variants

Rare truncating (LoF)

1 in 1,300

61 rare PASS variants

Rare synonymous (reference)

1 in 140

156 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TSPAN11. 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 180	1 in 2,000
South Asian	~43k	1 in 140	1 in 1,400
Remaining (unassigned)	~30k	1 in 85	1 in 1,400
European (Finnish)	~27k	1 in 1,300	1 in 4,200
Admixed American	~22k	1 in 110	1 in 2,500
African / African American	~21k	1 in 72	≈ 1 in 9,300
East Asian	~20k	1 in 180	1 in 1,500
Ashkenazi Jewish	~13k	1 in 870	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 120	≈ 1 in 960

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