ITGA11

Chr 15

integrin subunit alpha 11

Also known as: HsT18964

NCBI Gene: 22801 ENSG00000137809 UniProt: Q9UKX5

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]

Research

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: gnomAD API error: 400

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 ITGA11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 29

1,464 rare PASS variants

Rare truncating (LoF)

1 in 1,000

190 rare PASS variants

Rare synonymous (reference)

1 in 51

695 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ITGA11. 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 37	1 in 970
South Asian	~43k	1 in 38	1 in 680
Remaining (unassigned)	~30k	1 in 24	1 in 2,400
European (Finnish)	~27k	1 in 100	1 in 1,100
Admixed American	~22k	1 in 31	1 in 2,000
African / African American	~21k	1 in 31	1 in 1,100
East Asian	~20k	1 in 30	1 in 1,500
Ashkenazi Jewish	~13k	1 in 110	none seen
Middle Eastern	~2,884	1 in 40	≈ 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.